Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
nuclear receptor subfamily 5, group A, member 1
Synonyms:
steroidogenic factor 1,  Ftz-F1,  Ftzf1,  ELP,  SF1,  adrenal 4-binding protein,  Ad4BP,  SF-1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Nr5a1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Nr5a1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Nr5a1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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