| Premature Ovarian Failure 5 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Reduced antral foll... |
OMIM:611548 |
| Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Ovarian Dysgenesis 2 |
|
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... |
OMIM:300510 |
| Perrault Syndrome 6 |
|
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Irregular menstrua... |
OMIM:617565 |
| Ovarian Dysgenesis 10 |
|
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, El... |
OMIM:619834 |
| Testes, Rudimentary |
|
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism |
OMIM:273150 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... |
OMIM:615724 |
| Spermatogenic Failure 77 |
|
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... |
OMIM:620103 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Oligomenorrhea, Delayed puberty, Abnormal sperm morphology, Decreased testicular size, Testicular... |
ORPHA:52901 |
| Partial Chromosome Y Deletion |
|
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... |
ORPHA:1646 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:612310 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... |
OMIM:619203 |
| Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,... |
OMIM:108420 |
| Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Abnormal circulating luteinizing hormone concentration, Non-ob... |
OMIM:616950 |
| Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:615723 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... |
OMIM:612885 |
| Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... |
OMIM:617960 |
| Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility |
OMIM:619689 |
| Ovarian Dysgenesis 9 |
|
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... |
OMIM:619665 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
| Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Cryptorchidism, Cryptozoospermia, Azoospermia, Male infertility |
OMIM:618110 |
| Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:614324 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Cryptorchidism, Micropenis, Primary amenorrhea, Decreased serum estradio... |
OMIM:618841 |
| Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ... |
ORPHA:98797 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Androgen insufficiency, Oligospe... |
ORPHA:529970 |
| Leptin Receptor Deficiency |
|
Delayed puberty, Abnormal hypothalamus morphology, Diabetes mellitus, Decreased response to growt... |
OMIM:614963 |
| 46,Xy Sex Reversal 8 |
|
Male pseudohermaphroditism, Cryptorchidism, Ambiguous genitalia, Sex reversal |
OMIM:614279 |
| Ring Chromosome Y Syndrome |
|
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... |
ORPHA:261529 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... |
OMIM:614841 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia |
OMIM:613571 |
| Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619712 |
| Spermatogenic Failure 14 |
|
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... |
OMIM:615842 |
| 46,Xy Sex Reversal 9 |
|
Gonadal dysgenesis, Fused labia minora, Ambiguous genitalia, Sex reversal |
OMIM:616067 |
| Cone-Rod Dystrophy 1 |
|
Hypogonadism |
OMIM:600624 |
| Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... |
OMIM:618086 |
| Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619515 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... |
OMIM:619528 |
| Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... |
OMIM:301059 |
| Spermatogenic Failure 54 |
|
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... |
OMIM:619379 |
| Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Hypogonadotropic hypogonadism |
ORPHA:1180 |
| Isochromosomy Yq |
|
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp... |
ORPHA:98798 |
| Perrault Syndrome 3 |
|
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... |
OMIM:614129 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... |
OMIM:618664 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... |
OMIM:620084 |
| Spermatogenic Failure 50 |
|
Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male infertility |
OMIM:619145 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Microphallus, Absence ... |
OMIM:614840 |
| Spermatogenic Failure 39 |
|
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... |
OMIM:618643 |
| Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... |
OMIM:619585 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia |
OMIM:619102 |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism, Sex reversal |
OMIM:613743 |
| 46,Xy Sex Reversal 3 |
|
Elevated circulating luteinizing hormone level, Penoscrotal hypospadias, Ambiguous genitalia, Cli... |
OMIM:612965 |
| 46,Xy Sex Reversal 1 |
|
Male pseudohermaphroditism, Ambiguous genitalia, Gonadoblastoma, Gonadal dysgenesis with female a... |
OMIM:400044 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... |
ORPHA:488191 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Oligomenorrhea, Delayed puberty, Abnormality of the Leydig cells, Micropenis, Elevated circulatin... |
OMIM:228300 |
| Partial Androgen Insensitivity Syndrome |
|
Perineal hypospadias, Elevated circulating luteinizing hormone level, Increased serum testosteron... |
ORPHA:90797 |
| Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
| Spermatogenic Failure 48 |
|
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility |
OMIM:619108 |
| Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:620196 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:614822 |
| 46,Xy Sex Reversal 7 |
|
Dysgerminoma, Primary amenorrhea, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of... |
OMIM:233420 |
| Spermatogenic Failure 51 |
|
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... |
OMIM:619177 |
| Spermatogenic Failure 41 |
|
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia |
OMIM:618670 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty |
ORPHA:3000 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome, Hypospadias |
OMIM:201710 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Testicular d... |
ORPHA:168563 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:612997 |
| 46,Xy Sex Reversal 10 |
|
Perineal hypospadias, Dysgerminoma, Decreased testicular size, Micropenis, Ambiguous genitalia, G... |
OMIM:616425 |
| Deafness, Congenital, With Total Albinism |
|
Hypogonadism |
OMIM:220900 |
| Thyroid Hormone Metabolism, Abnormal, 3 |
|
Abnormal circulating free T3 concentration, Abnormal circulating free T4 concentration, Abnormal ... |
OMIM:620198 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
| 46,Xy Sex Reversal 11 |
|
Decreased cirrculating antimullerian hormone circulation, Aplasia of the uterus, Primary amenorrh... |
OMIM:273250 |
| Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618341 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Reduced ... |
OMIM:616030 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:619828 |
| 46,Xy Sex Reversal 5 |
|
Elevated circulating follicle stimulating hormone level, Sex reversal |
OMIM:613080 |
| Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
| Perrault Syndrome 4 |
|
Oligomenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Hyp... |
OMIM:615300 |
| 46,Xx Testicular Difference Of Sex Development |
|
Polycystic ovaries, Male hypogonadism, Decreased testicular size, Ambiguous genitalia |
ORPHA:393 |
| Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618153 |
| Leydig Cell Hypoplasia |
|
Primary amenorrhea, Ambiguous genitalia, Abnormal internal genitalia, Testicular gonadoblastoma, ... |
ORPHA:755 |
| Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619696 |
| Hyperprolactinemia |
|
Oligomenorrhea, Female infertility, Increased circulating prolactin concentration, Menorrhagia |
OMIM:615555 |
| Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella |
OMIM:617593 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Cryptorchidism, Gonadoblastoma, Streak ovary, Abnormality of the uterus, Abnormal vagina morpholo... |
OMIM:194072 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc... |
ORPHA:399805 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Decrease... |
OMIM:614897 |
| Spermatogenic Failure 37 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618152 |
| Spermatogenic Failure 46 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:617965 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Delayed puberty, Cryptorchidism, Agonadism, Breast hypoplasia, Primary gonadal insufficiency, Sma... |
ORPHA:2232 |
| Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias |
OMIM:241100 |
| Pituicytoma |
|
Hypopituitarism, Abnormal circulating adrenocorticotropin concentration, Increased circulating pr... |
ORPHA:251623 |
| 46,Xx Sex Reversal 3 |
|
Sex reversal |
OMIM:300833 |
| 46,Xy Sex Reversal 2 |
|
Sex reversal |
OMIM:300018 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619094 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... |
ORPHA:90793 |
| Prader-Willi syndrome (Type 1) |
|
Hypogonadism |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Hypogonadism |
DECIPHER:53 |
| Frasier Syndrome |
|
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Ambiguous genitalia, male, G... |
ORPHA:347 |
| 46,Xy Sex Reversal 6 |
|
Dysgerminoma, Gonadoblastoma, Clitoral hypertrophy, Sex reversal, Chordee, Gonadal dysgenesis, Hy... |
OMIM:613762 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism |
ORPHA:1014 |
| 46,Xx Gonadal Dysgenesis |
|
Delayed puberty, Premature ovarian insufficiency, Ambiguous genitalia, Primary amenorrhea, Decrea... |
ORPHA:243 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Decreased testicular size, Cryptorchidism, Retractile testis, Hypergonadotropic hypogonadism, Inc... |
ORPHA:163976 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Hyperinsulinemia, Hypergo... |
ORPHA:66628 |
| Spermatogenic Failure, X-Linked, 4 |
|
Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... |
OMIM:301077 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... |
OMIM:618745 |
| Premature Ovarian Failure 2B |
|
Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea |
OMIM:300604 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Hyperinsulinemia, Hypergo... |
ORPHA:179494 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis |
ORPHA:242 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu... |
OMIM:229070 |
| Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility |
OMIM:309120 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating androstenedione concentration, Premature adrenarche, Abnormal labia majora ... |
ORPHA:90791 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
| Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
| Polyembryoma |
|
Increased serum testosterone level, Isosexual precocious puberty, Increased serum serotonin, Abno... |
ORPHA:180229 |
| Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
| Morbid Obesity And Spermatogenic Failure |
|
Infertility, Hypertriglyceridemia, Azoospermia, Type II diabetes mellitus, Oligospermia, Hypercho... |
OMIM:615703 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Delayed puberty, Hypoplasia of the ovary, Primary amenorrhea, Breast hypoplasia, Decreased fertil... |
ORPHA:2235 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Ambiguous genitalia, Primary amenorrhea, Adrenogenital syndrome, Male pseudo... |
OMIM:202110 |
| 46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level, Azoospermia, Ovote... |
OMIM:400045 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... |
ORPHA:432 |
| Bdv Syndrome |
|
Delayed puberty, Cryptorchidism, Reduced TSH response to thyrotrophin-releasing hormone stimulati... |
OMIM:619326 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Decreased testicular size, Cryptorchidism, Hypogonadism, Increased circulating gonadotropin level... |
OMIM:300869 |
| Complete Androgen Insensitivity Syndrome |
|
Delayed puberty, Increased serum testosterone level, Aplasia/Hypoplasia of the fallopian tube, Ap... |
ORPHA:99429 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Functioning Gonadotropic Adenoma |
|
Delayed puberty, Isosexual precocious puberty, Abnormality of the menstrual cycle, Adrenocorticot... |
ORPHA:91348 |
| Adrenal Hypoplasia, Congenital |
|
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Decreased circulating cortisol level, Decrea... |
OMIM:300200 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Spermatogenic Failure 38 |
|
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Oligo... |
OMIM:618433 |
| Thyroid Hormone Metabolism, Abnormal, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
OMIM:609698 |
| Mccune-Albright Syndrome |
|
Goiter, Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increas... |
ORPHA:562 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... |
ORPHA:399808 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Decreased testicular size, Cryptorchidism, Hypergonadotropic hypogonadism, Increased circulating ... |
ORPHA:163971 |
| 47,Xyy Syndrome |
|
Increased serum testosterone level, Cryptorchidism, Micropenis, Varicocele, Azoospermia, Increase... |
ORPHA:8 |
| Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Hypoplasia of ... |
ORPHA:3130 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Oligomenorrhea, Adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia, Incre... |
ORPHA:786 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Delayed Puberty, Self-Limited |
|
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... |
OMIM:619613 |
| Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... |
OMIM:611102 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Absent testis, Abnormal morphology of female internal genitalia, Ambig... |
ORPHA:983 |
| Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Abnormality of the pituitary gland, Central adrenal insufficiency, Abnormality o... |
ORPHA:91349 |
| Premature Ovarian Failure 13 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus... |
OMIM:617442 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Primary amenorrhea, Ambiguous genitalia, Elevated circulating follicle stimulati... |
ORPHA:251510 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
| Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Sex reversal |
ORPHA:85112 |
| Non Rare In Europe: Central Precocious Puberty |
|
Isosexual precocious puberty, Hypothalamic hamartoma, Increased circulating gonadotropin level, P... |
ORPHA:759 |
| Precocious Puberty, Male-Limited |
|
Precocious puberty in males, Decreased testicular size |
OMIM:176410 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
| Spermatogenic Failure 5 |
|
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility |
OMIM:243060 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating ... |
OMIM:308700 |
| Premature Ovarian Failure 16 |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Decreas... |
OMIM:618723 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
| Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| Craniopharyngioma |
|
Hypopituitarism, Delayed puberty, Hypogonadism, Increased circulating prolactin concentration, Ab... |
ORPHA:54595 |
| 46,Xx Sex Reversal 2 |
|
Perineal hypospadias, Decreased serum testosterone concentration, Micropenis, Hypoplasia of the v... |
OMIM:278850 |
| Premature Ovarian Failure 17 |
|
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Decrea... |
OMIM:619146 |
| Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
| 49,Xxxyy Syndrome |
|
Decreased testicular size, Micropenis, Ambiguous genitalia, External genital hypoplasia, Primary ... |
ORPHA:261534 |
| Familial Hyperprolactinemia |
|
Oligomenorrhea, Infertility, Female hypogonadism, Menorrhagia, Amenorrhea, Hemorrhagic ovarian cyst |
ORPHA:397685 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Impaired cortisol response to corticotropin releasing hormone stimulation test, Adrenal hyperplas... |
OMIM:201810 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... |
ORPHA:90796 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Infertility, Hypogonad... |
OMIM:146110 |
| Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome |
OMIM:103900 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:619044 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617644 |
| Spastic Paraparesis And Deafness |
|
Hypogonadism |
OMIM:312910 |
| Bardet-Biedl Syndrome 11 |
|
Hypogonadism |
OMIM:615988 |
| Estrogen Resistance Syndrome |
|
Primary amenorrhea, Breast hypoplasia, Hypoplasia of the uterus, Hyperinsulinemia, Absence of sec... |
ORPHA:785 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Precocious Puberty, Central, 2 |
|
Premature pubarche, Premature thelarche |
OMIM:615346 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Azoospermia, Testicular atrophy |
OMIM:613909 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
| Gonadoblastoma |
|
Dysgerminoma, Increased serum testosterone level, Ambiguous genitalia, Gonadal dysgenesis with fe... |
ORPHA:206484 |
| Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Primary amenorrhea, Hypergonadotropic hypogonadism |
OMIM:607080 |
| Premature Ovarian Failure 20 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:619938 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Micropenis, Hypogonadism, Hypoplasia of penis |
ORPHA:85274 |
| Ovarian Dysgenesis 7 |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... |
OMIM:618117 |
| Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
| Hypogonadism-Cataract Syndrome |
|
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... |
OMIM:240950 |
| Serkal Syndrome |
|
Hypospadias, Abnormal penis morphology, Abnormality of the adrenal glands, Sex reversal |
ORPHA:139466 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Male pseudohermaphrodit... |
ORPHA:289548 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:614858 |
| Cataract-Deafness-Hypogonadism Syndrome |
|
Hypogonadism |
ORPHA:1383 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Hypogonadism |
OMIM:254000 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Male pseudohermaphrodit... |
ORPHA:168558 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Testicular adrenal rest tumor, Increased ser... |
ORPHA:90795 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Central hypothyroidism, Decreased circulating follicle stimulating hor... |
ORPHA:453533 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased c... |
OMIM:614839 |
| Ovarian Dysgenesis 4 |
|
Elevated circulating follicle stimulating hormone level, Decreased serum estradiol, Primary ameno... |
OMIM:616185 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries, Maturity-onset diabetes of the young |
OMIM:142330 |
| Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
| Kennedy Disease |
|
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy |
ORPHA:481 |
| Ovarian Fibrothecoma |
|
Increased serum testosterone level, Abnormal endometrium morphology, Abnormality of the ovary, Go... |
ORPHA:314478 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Absence of pubertal de... |
OMIM:614837 |
| Glucocorticoid Resistance, Generalized |
|
Increased circulating androstenedione concentration, Increased circulating ACTH level, Increased ... |
OMIM:615962 |
| 46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Male pseudohermaphroditism, Hyp... |
ORPHA:752 |
| 49,Xyyyy Syndrome |
|
Decreased testicular size, External genital hypoplasia, Primary gonadal insufficiency, Abnormalit... |
ORPHA:99330 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
| Polycystic Ovary Syndrome 1 |
|
Oligomenorrhea, Enlarged polycystic ovaries, Amenorrhea |
OMIM:184700 |
| Bardet-Biedl Syndrome |
|
Hypoplasia of the ovary, Cryptorchidism, Hypogonadism, Hypoplasia of penis |
ORPHA:110 |
| Ovarian Dysgenesis 5 |
|
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... |
OMIM:617690 |
| Ovarian Dysgenesis 6 |
|
Primary amenorrhea, Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic ... |
OMIM:618078 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Reduced circulating growth hormone concentration, Abnormal circulating adrenocorticotropin concen... |
OMIM:262600 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Male pseudohermaphroditism, Micropenis, Ambiguous genitalia, Decreased circulating dehydroepiandr... |
OMIM:250790 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Delayed puberty, Cryptorchidism, Micropenis, Small pituitary gland, Hypogonadotropic hypogonadism |
OMIM:612702 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Polycystic ovaries, Hyperinsulinemia, Infertility, Hypertriglyceridemia, Abnormal... |
ORPHA:280356 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Absent vas deferens, Oligospermia, Obstructive azoospermia, Male infertility |
ORPHA:48 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Increased circulating ACTH level, Abnormal circulating androgen level, Femal... |
ORPHA:90790 |
| Spermatogenic Failure 3 |
|
Reduced sperm motility, Male infertility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Reduced sperm motility, Male infertility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Reduced sperm motility, Male infertility |
OMIM:619380 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
| Post-Traumatic Pituitary Deficiency |
|
Delayed puberty, Decreased testicular size, Decreased response to growth hormone stimulation test... |
ORPHA:95619 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Elevated circulating growth hormone concentration, Decreased serum insulin-like growth factor 1, ... |
ORPHA:85327 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypopituitarism, Precocious puberty, Increased circulating prolactin concentration, Decreased res... |
ORPHA:91354 |
| Bardet-Biedl Syndrome 5 |
|
External genital hypoplasia, Micropenis, Hypogonadism |
OMIM:615983 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Increased serum testosterone level, Decrease... |
OMIM:202010 |
| Adrenocortical Carcinoma |
|
Increased circulating androstenedione concentration, Hyperaldosteronism, Diabetes mellitus, Incre... |
ORPHA:1501 |
| Paternal Uniparental Disomy Of Chromosome X |
|
Infertility, Decreased testicular size, Micropenis |
ORPHA:261524 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... |
OMIM:202150 |
| Premature Ovarian Failure 14 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:618014 |
| Mullerian Aplasia And Hyperandrogenism |
|
Increased circulating androstenedione concentration, Aplasia of the fallopian tube, Primary ameno... |
OMIM:158330 |
| Wolfram-Like Syndrome |
|
Delayed puberty, Diabetes mellitus, Primary gonadal insufficiency, Hypothyroidism, Male hypogonad... |
ORPHA:411590 |
| Spastic Paraparesis-Deafness Syndrome |
|
Hypogonadism |
ORPHA:2815 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Supernumerary nipple, Cryptorchidism, Micropenis, Interhypothalamic adhesion |
OMIM:618929 |
| Testicular Agenesis |
|
Absent testis, Micropenis, Ambiguous genitalia, Urethrovaginal fistula, Urogenital sinus anomaly,... |
ORPHA:325124 |
| Ovarian Dysgenesis 8 |
|
Decreased cirrculating antimullerian hormone circulation, Primary amenorrhea, Elevated circulatin... |
OMIM:618187 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Infertility, Male pseudohermaphroditism, Female external genitalia in individual with 46,XY karyo... |
OMIM:264300 |
| Leopard Syndrome 1 |
|
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Delayed menarche, Aplasia o... |
OMIM:151100 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism |
OMIM:615269 |
| Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:176400 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Primary amenorrhea, Hypergonadotropic hypogonadism |
OMIM:613546 |
| Image Syndrome |
|
Adrenal hypoplasia, Cryptorchidism, Hypogonadism, Hypospadias |
ORPHA:85173 |
| Asherman Syndrome |
|
Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Metrorrhagia, Infertility, Abnormal... |
ORPHA:137686 |
| Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypospadias |
OMIM:201910 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... |
ORPHA:2138 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis, Hypospadias, Ovotestis, Sex reversal |
OMIM:611812 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hy... |
ORPHA:96181 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypoplasia of the uterus, Decre... |
OMIM:614842 |
| 46,Xx Sex Reversal 5 |
|
Urogenital sinus anomaly, Increased serum testosterone level, Ambiguous genitalia |
OMIM:618901 |
| Aromatase Deficiency |
|
Cryptorchidism, Primary amenorrhea, Hypergonadotropic hypogonadism, Female infertility, Hyperlipi... |
ORPHA:91 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Small pituitary gland, Micropenis |
OMIM:614880 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301033 |
| Androgen Insensitivity, Partial |
|
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... |
OMIM:312300 |
| Ane Syndrome |
|
Delayed puberty, Adrenocorticotropin deficient adrenal insufficiency, Abnormal response to ACTH s... |
ORPHA:157954 |
| Leptin Deficiency Or Dysfunction |
|
Decreased testicular size, Micropenis, Hypogonadism, Primary amenorrhea, Decreased serum leptin |
OMIM:614962 |
| 46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Ambiguous genitalia, male, Urogenital ... |
ORPHA:753 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Adrenal hyperplasia, Hypoparathyroidism, Decreased circulating aldosterone level, Increased circu... |
ORPHA:3453 |
| Limb-Mammary Syndrome |
|
Hypoplastic nipples, Breast aplasia, Aplasia of the ovary, Absent nipple, Bilateral breast hypopl... |
ORPHA:69085 |
| Dystonia 30 |
|
Hypothalamic hamartoma |
OMIM:619291 |
| Xq27.3Q28 Duplication Syndrome |
|
Premature ovarian insufficiency, Decreased testicular size, Cryptorchidism, Hypogonadism |
ORPHA:261483 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating follicle stimulating hormon... |
OMIM:308750 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism |
OMIM:300886 |
| Androgen Insensitivity Syndrome |
|
Delayed puberty, Aplasia/Hypoplasia of the fallopian tube, Cryptorchidism, Abnormal morphology of... |
ORPHA:754 |
| Prolactin Deficiency, Isolated |
|
Infertility, Reduced circulating prolactin concentration, Irregular menstruation |
OMIM:264110 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Delayed puberty, Central adrenal insufficiency, Small pituitary gland, Hypogonadotropic hypogonadism |
OMIM:612079 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Ambiguous genitalia, Fused labia majora, Inc... |
ORPHA:90794 |
| Deafness, Conductive, With Malformed External Ear |
|
Hypogonadism |
OMIM:221300 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Premature ovarian insufficiency, Decreased serum testosterone concentration |
ORPHA:101006 |
| Bardet-Biedl Syndrome 10 |
|
Hypogonadism |
OMIM:615987 |
| Familial Glucocorticoid Deficiency |
|
Testicular adrenal rest tumor, Decreased circulating dehydroepiandrosterone concentration, Abnorm... |
ORPHA:361 |
| Megalencephaly |
|
Long penis, Macroorchidism |
ORPHA:2477 |
| Gordon Holmes Syndrome |
|
Oligomenorrhea, Primary amenorrhea, Absence of pubertal development, Secondary amenorrhea, Hypogo... |
OMIM:212840 |
| Obsolete: Primary Pigmented Nodular Adrenocortical Disease |
|
Abnormal libido, Adrenal hyperplasia, Diabetes mellitus, Increased circulating cortisol level, De... |
ORPHA:189439 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
| Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal insufficiency, Hy... |
OMIM:617872 |
| 46,Xy Sex Reversal 4 |
|
Agonadism, Hypoplasia of the uterus, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Se... |
OMIM:154230 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Adenohypophysitis |
|
Decreased serum testosterone concentration, Adrenocorticotropin deficient adrenal insufficiency, ... |
ORPHA:95512 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, Abnormal internal genitalia, Streak ovary, Bilateral crypto... |
ORPHA:1772 |
| Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... |
ORPHA:404 |
| Ciliary Dyskinesia, Primary, 37 |
|
Goiter, Female infertility, Hypothyroidism |
OMIM:617577 |
| Non-Acquired Panhypopituitarism |
|
Hypopituitarism, Decreased testicular size, Delayed puberty, Anterior pituitary hypoplasia, Decre... |
ORPHA:90695 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Hypothalamic hamartoma, Hypothyroidism |
OMIM:619908 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
| Persistent Müllerian Duct Syndrome |
|
Male pseudohermaphroditism, Cryptorchidism |
ORPHA:2856 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Reduced circulating prolactin concentration, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:300888 |
| Panhypophysitis |
|
Decreased serum testosterone concentration, Adrenocorticotropin deficient adrenal insufficiency, ... |
ORPHA:95513 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Central hypothyroidism, Abnormal thyroid-stimulating hormone level, Hy... |
OMIM:616113 |
| X-Linked Acrogigantism |
|
Hypopituitarism, Elevated circulating growth hormone concentration, Delayed puberty, Hypogonadism... |
ORPHA:300373 |
| Woodhouse-Sakati Syndrome |
|
Delayed puberty, Premature ovarian insufficiency, Decreased testicular size, Micropenis, Hypogona... |
ORPHA:3464 |
| Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Primary amenorrhea, Polycystic ovaries,... |
OMIM:615363 |
| Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... |
ORPHA:403 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty |
ORPHA:217377 |
| Biemond Syndrome Type 2 |
|
Delayed puberty, Hypogonadotropic hypogonadism, Hypogonadism, Hypospadias |
ORPHA:141333 |
| 17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
| Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism |
OMIM:615266 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
| Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Primary amenorrhea, Abnormality of the ovary, Hypoplasia of t... |
ORPHA:247768 |
| Pituitary Carcinoma |
|
Hypopituitarism, Hyperpituitarism, Elevated circulating growth hormone concentration, Pituitary p... |
ORPHA:300385 |
| Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Decreased circulating dehydroepiandrosterone concentration, Increased serum testosterone level, I... |
OMIM:610489 |
| Woodhouse-Sakati Syndrome |
|
Premature ovarian insufficiency, Decreased testicular size, Micropenis, Diabetes mellitus, Hypopl... |
OMIM:241080 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Diabetes mellitus, Abs... |
OMIM:610628 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased testicular size, Primary amenorrhea, Hypergonadotropic hypogonadism, Decreased serum es... |
OMIM:604168 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Premature ovarian insufficiency, Primary amenorrhea, Primary gonadal insufficiency, Decreased cir... |
OMIM:603896 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Oligomenorrhea, Lacrimal gland aplasia, Premature ovarian insufficiency, Lacrimal gland hypoplasi... |
ORPHA:572333 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
| Duplication Of The Pituitary Gland |
|
Abnormality of the pituitary gland, Abnormal hypothalamus morphology |
ORPHA:314621 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Increased circulating cortisol level, Primary hypercortisolism, Decreased ci... |
OMIM:219080 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Delayed puberty, Primary amenorrhea, Hypergonadotropic hypogonadism, Decreased fertility, Absence... |
ORPHA:2410 |
| Septopreoptic Holoprosencephaly |
|
Anterior hypopituitarism, Central diabetes insipidus, Precocious puberty |
ORPHA:280195 |
| Cortisone Reductase Deficiency 1 |
|
Oligomenorrhea, Infertility, Precocious puberty |
OMIM:604931 |
| Isolated Growth Hormone Deficiency, Type Iv |
|
Impaired growth-hormone response to insulin stimulation test, Decreased response to growth hormon... |
OMIM:618157 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Abnormal libido, Hyperaldosteronism, Abnormal response to corticotropin releasing hormone stimula... |
ORPHA:189427 |
| Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
Hypergonadotropic hypogonadism |
ORPHA:88637 |
| Diabetes Insipidus, Neurohypophyseal |
|
Decreased circulating osteocalcin level, Central diabetes insipidus |
OMIM:125700 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Testicular atrophy, Diabetes mellitus, Infertility, Erectile dysfunction, Hypothyroidism, Amenorr... |
ORPHA:465508 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Hyperpituitarism, Hypogonadism, Increased circulating prolactin concentration, Neoplasm of the an... |
ORPHA:91351 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, Micropenis, Abno... |
ORPHA:1916 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Delayed puberty, Increased size of the clitoris, Primary amenorrhea, Ambiguous genitalia, Elevate... |
ORPHA:95699 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increased urinary cortiso... |
OMIM:615954 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
| Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, External genital hypoplasia, Hypogonadism |
OMIM:615982 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Graves disease, Abnormality of the thyroid gland, Hypogonadism, Hashimoto thyroiditis, Hypoparath... |
ORPHA:3143 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism |
OMIM:612370 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Delayed puberty, Hypogonadism |
OMIM:615270 |
| Thyroid Hormone Resistance, Selective Pituitary |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... |
OMIM:145650 |
| Mccune-Albright Syndrome |
|
Elevated circulating growth hormone concentration, Increased circulating prolactin concentration,... |
OMIM:174800 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol ... |
OMIM:615830 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Classic Galactosemia |
|
Oligomenorrhea, Delayed puberty, Decreased fertility in females, Premature ovarian insufficiency,... |
ORPHA:79239 |
| Xp22.3 Microdeletion Syndrome |
|
Polycystic ovaries, Hypogonadotropic hypogonadism |
ORPHA:1643 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased testicular size, Hypogonadism, Decreased serum testosterone concentration |
OMIM:201100 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligospermia |
OMIM:314300 |
| Culler-Jones Syndrome |
|
Hypopituitarism, Cryptorchidism, Micropenis, Hypogonadism, Diabetes insipidus, Ectopic posterior ... |
OMIM:615849 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Increased circulating prola... |
ORPHA:91350 |
| Crandall Syndrome |
|
Abnormal testis morphology, Hypogonadism, Hypoplasia of penis |
ORPHA:202 |
| 46,Xx Sex Reversal 4 |
|
Penoscrotal hypospadias, Micropenis, Ambiguous genitalia, Retractile testis, Clitoral hypertrophy... |
OMIM:617480 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Breast aplasi... |
ORPHA:3044 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... |
ORPHA:90301 |
| Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301035 |
| Aarskog-Scott Syndrome |
|
Delayed puberty, Cryptorchidism, Testicular atrophy, Shawl scrotum, Elevated circulating follicle... |
OMIM:305400 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Macroorchidism |
OMIM:300055 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
| Pituitary Stalk Interruption Syndrome |
|
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Diabetes insipidus, Hypoplasia of penis, Ect... |
ORPHA:95496 |
| Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
| Tetragametic Chimerism |
|
Perineal hypospadias, Cryptorchidism, Micropenis, Ambiguous genitalia, Gonadal dysgenesis with fe... |
ORPHA:199310 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Irregular menstruation, Female inferti... |
OMIM:110100 |
| Hemochromatosis, Type 2A |
|
Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism |
OMIM:602390 |
| Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
| Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating T4 concentration |
OMIM:603373 |
| Björnstad Syndrome |
|
Hypogonadism |
ORPHA:123 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Goiter, Hypercholesterolemia, Increased circulating prolactin concentration, Decreased circulatin... |
ORPHA:90674 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hypothalamic lute... |
ORPHA:231720 |
| Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
| Late-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Abnormal circulating corticosterone level, Decreased circulati... |
ORPHA:556037 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Decreased fertility, Abnormal testis morphology, Hypogonadism |
ORPHA:2233 |
| 46,Xy Ovotesticular Difference Of Sex Development |
|
Perineal hypospadias, Fused labia minora, Micropenis, Ambiguous genitalia, Gonadoblastoma, Epispa... |
ORPHA:325345 |
| Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Absence of pubertal development, Hypogonadism |
OMIM:615267 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Azoospermia, Male infertility |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Azoospermia, Male infertility |
OMIM:277180 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypopituitarism, Decreased testicular size, Delayed puberty, Anterior pituitary agenesis, Anterio... |
ORPHA:95494 |
| Endocrine-Cerebroosteodysplasia |
|
Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, Microphallus, Small scrotum, Sex reversa... |
OMIM:612651 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Thyroid hypoplasia, Hypot... |
OMIM:275200 |
| Temple Syndrome |
|
Cryptorchidism, Type II diabetes mellitus, Decreased response to growth hormone stimulation test,... |
ORPHA:254516 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Decreased testicular size, Abnormality of the thyroid gland, Hypogonadism, Hypoplasia of penis, D... |
ORPHA:2234 |
| Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
| Prolactinoma |
|
Delayed puberty, Abnormality of the pituitary gland, Central adrenal insufficiency, Abnormality o... |
ORPHA:2965 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, External genital hypoplasia, Hypogonadism |
ORPHA:363741 |
| Early-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Abnormal circulating corticosterone level, Decreased circulati... |
ORPHA:556030 |
| Pallister-Hall-Like Syndrome |
|
Anterior hypopituitarism, Hypothalamic hamartoma, Micropenis |
OMIM:241800 |
| Lead Poisoning |
|
Delayed puberty, Abnormal sperm morphology, Decreased circulating osteocalcin level, Decreased ma... |
ORPHA:330015 |
| Carney Complex |
|
Abnormal morphology of female internal genitalia, Euthyroid multinodular goiter, Increased circul... |
ORPHA:1359 |
| Pituitary Adenoma 1, Multiple Types |
|
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Increased ci... |
OMIM:102200 |
| Xp22.13P22.2 Duplication Syndrome |
|
Polycystic ovaries, Macroorchidism |
ORPHA:284180 |
| Pituitary Gigantism |
|
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Increased ci... |
ORPHA:99725 |
| Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Hypospadias |
OMIM:615985 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Goiter, Diabetes mellitus, Compensated hypothyroidism, Impaired sensitivity to thyroid hormone, E... |
OMIM:274300 |
| Frasier Syndrome |
|
Male pseudohermaphroditism, Ovarian gonadoblastoma, Gonadal dysgenesis |
OMIM:136680 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Delayed puberty, Premature ovarian insufficiency, Micropenis, Neoplasm of the pancreas, Hypergona... |
ORPHA:2959 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Hyperaldosteronism, Abnormal circulating renin, Dexamethasone-suppressible p... |
ORPHA:369929 |
| Alg6-Cdg |
|
Increased circulating androgen concentration, Puberty and gonadal disorders |
ORPHA:79320 |
| Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating... |
ORPHA:231580 |
| Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, External genital hypoplasia, Hypogonadism |
OMIM:615981 |
| X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Hypogonadism |
ORPHA:85283 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Hyperinsulinemia, Hypergonadotropi... |
ORPHA:3085 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Cryptorchidism, Micropenis, Clitoral hypertrophy, Urogenital sinus anomaly, Chordee, Streak ovary... |
OMIM:618820 |
| Moynahan Syndrome |
|
Hypogonadism |
ORPHA:2574 |
| Hemochromatosis, Type 1 |
|
Testicular atrophy, Diabetes mellitus, Azoospermia, Impotence, Amenorrhea, Hypogonadotropic hypog... |
OMIM:235200 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormality of thalamus morphology |
ORPHA:397725 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, External genital hypoplasia,... |
ORPHA:398079 |
| Bangstad Syndrome |
|
Polycystic ovaries, Abnormality of the parathyroid gland, Increased circulating cortisol level, P... |
ORPHA:1227 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism |
ORPHA:2183 |
| Myotonic Dystrophy 2 |
|
Elevated circulating follicle stimulating hormone level, Oligospermia, Type II diabetes mellitus,... |
OMIM:602668 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Hypothyroidism |
OMIM:275100 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Reduced circulating growth hormone concentration, Decreased testicular size, Decreased cirrculati... |
OMIM:300845 |
| Lessel-Kubisch Syndrome |
|
Hypogonadism |
OMIM:618681 |
| Growth Hormone Insensitivity Syndrome |
|
Hypogonadism, Diabetes mellitus, Diabetes insipidus, Hypoplasia of penis, Type II diabetes mellitus |
ORPHA:181393 |
| Graves Disease, Susceptibility To, 1 |
|
Graves disease, Goiter, Increased circulating free T3, Decreased thyroid-stimulating hormone leve... |
OMIM:275000 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:613668 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hypogonadism |
OMIM:601794 |
| Pituitary Hormone Deficiency, Combined, 3 |
|
Anterior hypopituitarism, Decreased response to growth hormone stimulation test, Anterior pituita... |
OMIM:221750 |
| Alg9-Cdg |
|
Hypoplastic nipples, Hypoplasia of the ovary, Bicornuate uterus |
ORPHA:79328 |
| Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Decreased s... |
OMIM:173100 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Hyperthyroidism, Decreased thyroid-stimulating hormone level, Increased circulating T4 co... |
OMIM:613239 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Increased circulating ACTH level, Cryptorchidism, Abnormal circulating renin, Abnormal circulatin... |
OMIM:614736 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Hypothyroidism |
OMIM:620211 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Delayed puberty, Decreased testicular size, Decreased response to growth hormone stimulation test... |
ORPHA:280679 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypogonadism, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Elevated ... |
OMIM:612462 |
| Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Ovarian cyst, Increased circulating gonadotropin level, Enlar... |
ORPHA:64739 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Oligomenorrhea, Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Amenorrhea |
ORPHA:2795 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Polycystic ovaries, Hyperinsulinemia |
ORPHA:79084 |
| Pmm2-Cdg |
|
Decreased testicular size, Elevated circulating growth hormone concentration, Increased circulati... |
ORPHA:79318 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Goiter, Increased circulating prolactin concentration, Decreased circulating T4 concentration, El... |
ORPHA:99832 |
| Denys-Drash Syndrome |
|
Male pseudohermaphroditism, Gonadal dysgenesis |
ORPHA:220 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypogonadism, Primary testicular failure, Male infertility, Abnormal testis morphology, Oligospermia |
ORPHA:85450 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Coiled sperm flagella, Male infertility, Short sperm flagella |
OMIM:620197 |
| Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Primary amenorrhea, Clitoral hypertrophy, Elevated circulating f... |
OMIM:612964 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormality of the adrenal glands, Abnormal hypothalamus morphology |
ORPHA:68 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Delayed puberty, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central adrenal i... |
ORPHA:98754 |
| Cln3 Disease |
|
Increased circulating androgen concentration |
ORPHA:228346 |
| Giant Axonal Neuropathy |
|
Abnormality of the pituitary gland |
ORPHA:643 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Hypogonadism, Supernumerary nipple, Decreased fertility, Abnormality of the hypothalamus-pituitar... |
ORPHA:1173 |
| Gangliocytoma |
|
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Abnormality ... |
ORPHA:251937 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:619072 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy |
ORPHA:2822 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility |
ORPHA:2239 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Goiter, Decreased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Abno... |
ORPHA:95715 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Delayed puberty, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central adrenal i... |
ORPHA:98793 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Decreased serum testosterone concentration |
OMIM:609195 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion |
OMIM:619057 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Diabetes mellitus, Abnormality of endocrine pancreas physiology, Impotence, Hypogonadism |
ORPHA:79230 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of the ovary, Decreased testicular size, Micropenis |
OMIM:619321 |
| Pituitary Apoplexy |
|
Hypopituitarism, Elevated circulating growth hormone concentration, Increased circulating prolact... |
ORPHA:95613 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Delayed puberty, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central adrenal i... |
ORPHA:177904 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Female infertility, Premature ovarian insufficiency, Mitochondrial hypertrophy |
OMIM:619518 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Hypogonadism |
OMIM:251240 |
| Sheehan Syndrome |
|
Oligomenorrhea, Adrenocorticotropin deficient adrenal insufficiency, Hashimoto thyroiditis, Dyspa... |
ORPHA:91355 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618317 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Delayed puberty, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central adrenal i... |
ORPHA:177901 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism |
ORPHA:324410 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Thalamic calcification |
OMIM:615483 |
| Bardet-Biedl Syndrome 22 |
|
Hypogonadism |
OMIM:617119 |
| Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Increased pineal volume, Clitoral hypertrophy, Fasting hyperi... |
ORPHA:769 |
| Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
| Tsh-Secreting Pituitary Adenoma |
|
Goiter, Elevated circulating growth hormone concentration, Delayed puberty, Adrenocorticotropin d... |
ORPHA:91347 |
| Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... |
ORPHA:95717 |
| Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
