Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
gonadotropin releasing hormone receptor
Synonyms:
N/A

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 Gnrhr 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 Gnrhr by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Impot... ORPHA:432
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Micropenis, Sparse axillary hair, Hypogonadotropic hypogonadism, Primary amenorrhea,... OMIM:146110

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... ORPHA:1646
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
Spermatogenic Failure 51
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size OMIM:619689
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... OMIM:614841
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Congenital adrenal hypoplasia, Decreased circulating luteinizing hormone level, M... OMIM:202150
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:619613
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... OMIM:614842
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 46
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... OMIM:619095
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micropenis, Uni... OMIM:308750
Spermatogenic Failure 64
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility OMIM:619696
Spermatogenic Failure 24
Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta... OMIM:617959
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Immotile sperm, Male infertility, Abnormal sperm morphology OMIM:608653
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head OMIM:243060
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Decreased serum testosterone concentration, Cryptorchidism, Small for gestatio... OMIM:300869
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Sparse axillary hair, Delayed men... ORPHA:52901
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619203
X-Linked Intellectual Disability, Van Esch Type
Increased circulating gonadotropin level, Type II diabetes mellitus, Decreased serum testosterone... ORPHA:163976
Hypogonadotropic Hypogonadism 27 Without Anosmia
Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration... OMIM:619755
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Spermatogenic Failure 26
Acephalic spermatozoa, Infertility OMIM:617961
Cone-Rod Dystrophy 1
Hypogonadism OMIM:600624
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty OMIM:618117
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Hypoinsulinemia, Decreased serum testosterone concentration, Hypogonad... ORPHA:453533
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... OMIM:612964
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... OMIM:300510
Spermatogenic Failure 21
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility OMIM:261550
X-Linked Intellectual Disability, Cilliers Type
Increased circulating gonadotropin level, Failure to thrive, Decreased serum testosterone concent... ORPHA:163971
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
49,Xxxyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:261534
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... ORPHA:90796
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Impot... ORPHA:432
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Micropenis, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone con... OMIM:619761
Estrogen Resistance
Hyperinsulinemia, Hypoplasia of the uterus, Primary amenorrhea OMIM:615363
Pituicytoma
Amenorrhea, Abnormality of the pituitary gland, Impotence, Decreased serum testosterone concentra... ORPHA:251623
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Hypogonadotropic hypogonadism ORPHA:1180
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Cleft palate, Primary ameno... OMIM:615300
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Micropenis, Sparse body hair, Hypogonadism, Obesity, Cryptorchidism ORPHA:85274
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... OMIM:301077
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:614840
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Premature Ovarian Failure 13
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Complete Androgen Insensitivity Syndrome
Blind vagina, Tall stature, Primary amenorrhea, Bilateral cryptorchidism, Increased antimullerian... ORPHA:99429
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Gonadoblastoma
Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear... ORPHA:206484
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
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
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
49,Xyyyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:99330
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Cleft p... ORPHA:247768
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... ORPHA:399805
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... OMIM:278850
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... ORPHA:1916
Deafness, Congenital, With Total Albinism
Hypogonadism OMIM:220900
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Hypoplasia of the ut... OMIM:202010
Hypersecretion Of Adrenal Androgens, Familial
Amenorrhea, Premature pubarche, Increased circulating androgen concentration, Adrenal overactivity OMIM:145295
Estrogen Resistance Syndrome
Hyperinsulinemia, Hypoplasia of the uterus, Absence of pubertal development, Primary amenorrhea, ... ORPHA:785
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Sparse eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Alopecia, Primary amenor... ORPHA:2232
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Micropenis, Sparse axillary hair, Hypogonadotropic hypogonadism, Primary amenorrhea,... OMIM:146110
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
7P22.1 Microduplication Syndrome
Cryptorchidism ORPHA:314034
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Irregular menstruation, Premature ovarian insufficiency OMIM:311360
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration OMIM:215470
Bardet-Biedl Syndrome 5
Obesity, Hypogonadism, External genital hypoplasia, Micropenis OMIM:615983
Leptin Deficiency Or Dysfunction
Micropenis, Primary amenorrhea, Decreased serum leptin, Decreased testicular size, Hypogonadism, ... OMIM:614962
Testicular Anomalies With Or Without Congenital Heart Disease
Micropenis, Ambiguous genitalia, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic... OMIM:615542
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Frasier Syndrome
Nephrotic syndrome, Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, S... ORPHA:347
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Bardet-Biedl Syndrome 12
Obesity, Hypogonadism OMIM:615989
Satoyoshi Syndrome
Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Ab... ORPHA:3130
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Sparse body hair, Truncal obesity, Decreased testicular size, Hypogonadism, Cr... ORPHA:261483
Familial Hyperprolactinemia
Amenorrhea, Infertility, Oligomenorrhea, Menorrhagia, Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Gordon Holmes Syndrome
Infertility, Oligomenorrhea, Hypogonadotropic hypogonadism OMIM:212840
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Premature Ovarian Failure 9
Amenorrhea, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:615724
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Premature Ovarian Failure 16
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Decreased... OMIM:618723
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Invasive Mole
Menometrorrhagia ORPHA:99925
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Bifid Nose, Autosomal Dominant
Cryptorchidism OMIM:109740
Spastic Paraparesis And Deafness
Hypogonadism OMIM:312910
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased... ORPHA:3464
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Horseshoe kidney, Abnormal intern... ORPHA:1772
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, Hypergonadotrop... OMIM:241080
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Ovarian Fibrothecoma
Increased serum testosterone level, Hirsutism, Abnormal endometrium morphology, Metrorrhagia, Abn... ORPHA:314478
Hyperprolactinemia
Increased circulating prolactin concentration, Infertility, Oligomenorrhea, Menorrhagia OMIM:615555
46,Xx Gonadal Dysgenesis
Streak ovary, Primary amenorrhea, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Sparse pu... ORPHA:243
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Hypergonadotropic hypogonadism, Primary amenorrhea, Gonadal dysgenesis OMIM:607080
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism, Thick eyebrow OMIM:309585
Bardet-Biedl Syndrome 6
External genital hypoplasia, Hypospadias, Renal cyst, Diabetes mellitus, Vaginal atresia, Obesity OMIM:605231
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Female infertility... OMIM:619938
Bardet-Biedl Syndrome 10
Obesity, Renal cyst, Renal insufficiency, Hypogonadism OMIM:615987
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... ORPHA:91348
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
Polyembryoma
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... ORPHA:180229
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Nephropathy, Abnormality of the uterus, Re... OMIM:194072
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, female, Alopecia, Decreased circulating cortisol level, Premature thelarche,... ORPHA:90795
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Ane Syndrome
Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test... ORPHA:157954
46,Xy Sex Reversal 4
High palate, Sex reversal, Anal atresia, Hypoplasia of the uterus, Cleft palate, Hypergonadotropi... OMIM:154230
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... OMIM:233420
Spastic Paraparesis-Deafness Syndrome
Hypogonadism ORPHA:2815
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Unilateral renal agenesis, Ectopic kid... OMIM:601076
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:610628
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism ORPHA:1014
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Abnormality of the endocrine system, Hypoplasia of penis, Ambiguous gen... ORPHA:753
Ovarian Dysgenesis 4
Decreased serum estradiol, Primary amenorrhea, Elevated circulating follicle stimulating hormone ... OMIM:616185
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm... OMIM:619949
Aarskog-Scott Syndrome
Failure to thrive, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism... OMIM:305400
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Secondary amenorrhea... ORPHA:3085
Kennedy Disease
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility ORPHA:481
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
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal hair quantity, Abnormal testis morphology, Hypogonadism, Obesity, Low posterior hairline... ORPHA:2233
Adenomyosis
Adenomyosis, Dysmenorrhea OMIM:600458
Bardet-Biedl Syndrome 16
External genital hypoplasia, Renal cyst, Renal insufficiency, Hypogonadism, Obesity OMIM:615993
Hao-Fountain Syndrome
Cryptorchidism, Premature adrenarche, Micropenis OMIM:616863
Amed Syndrome, Digenic
Adrenal hypoplasia, Hypoplasia of the uterus OMIM:619151
Bardet-Biedl Syndrome 4
External genital hypoplasia, Renal cyst, Hypogonadism, Obesity, Cryptorchidism OMIM:615982
Pseudovaginal Perineoscrotal Hypospadias
Abnormality of the endocrine system, Ambiguous genitalia, male, Micropenis, Bifid scrotum, Crypto... OMIM:264600
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Decreased testicular size, Micropenis OMIM:601217
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Decreased serum testosterone concentration, Decreased testicular size, Hypogon... OMIM:201100
46,Xx Sex Reversal 5
Urogenital sinus anomaly, Ambiguous genitalia, Increased serum testosterone level OMIM:618901
47,Xyy Syndrome
Increased circulating gonadotropin level, Increased serum testosterone level, Tall stature, Micro... ORPHA:8
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... ORPHA:465508
Aromatase Deficiency
Generalized hirsutism, Ambiguous genitalia, female, Female infertility, Type II diabetes mellitus... ORPHA:91
Bardet-Biedl Syndrome 19
Renal insufficiency, Obesity, External genital hypoplasia, Hypogonadism OMIM:615996
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Hypoplasia of penis, Eunuchoid habit... ORPHA:2234
46,Xy Sex Reversal 1
Sex reversal, Male pseudohermaphroditism, Abnormality of male external genitalia, Primary amenorr... OMIM:400044
Cataract-Deafness-Hypogonadism Syndrome
Hypogonadism ORPHA:1383
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased serum testosterone concentration, Eunuchoid habitus, Elevated circulating luteinizing h... ORPHA:3044
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Amenorrhea-Galactorrhea Syndrome
Pituitary adenoma, Secondary amenorrhea OMIM:104600
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... ORPHA:2235
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormon... OMIM:609441
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Macrocephaly, Acquired, With Impaired Intellectual Development
Unilateral cryptorchidism OMIM:618286
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex characteristics, Sec... ORPHA:2410
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Decreased serum testosterone concentration, Micropenis, Hypergonadotrop... ORPHA:2959
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:98754
Kennerknecht syndrome
High palate, Agonadism, Hypoplasia of the uterus, Malrotation of colon OMIM:600908
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity, Micropenis OMIM:610156
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:98793
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Decreased re... ORPHA:226307
Mehmo Syndrome
Hypoplasia of penis, External genital hypoplasia, Micropenis, Diabetes mellitus, Obesity, Cryptor... ORPHA:85282
Cortisone Reductase Deficiency 1
Infertility, Hirsutism, Precocious puberty, Alopecia, Oligomenorrhea, Obesity OMIM:604931
N Syndrome
Hypospadias, Cryptorchidism ORPHA:2608
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism OMIM:616030
Bardet-Biedl Syndrome
Generalized hirsutism, Hypoplasia of the ovary, Nephrotic syndrome, Hypoplasia of penis, Multicys... ORPHA:110
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:177904
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Infertility, Type II diabetes mellitus OMIM:615703
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:177901
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix morphology, Pa... ORPHA:3411
Meningioma
Amenorrhea, Enlarged pituitary gland, Impotence, Decreased serum testosterone concentration, Redu... ORPHA:2495
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Ab... ORPHA:280356
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Premature Ovarian Failure 15
Oligomenorrhea OMIM:618096
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Eleva... ORPHA:572333
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, High palate, Female infertility, Hypoplasia of the uterus, Irregular menstruation, In... OMIM:110100
Image Syndrome
Hypospadias, Adrenal hypoplasia, Hydronephrosis, Hypogonadism, Cryptorchidism ORPHA:85173
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypogonadism OMIM:616113
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Cryptorchidism, Microphallus, Micropenis OMIM:218450
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of penis, Alopecia, Sparse hair... OMIM:275400
Satoyoshi Syndrome
Amenorrhea, Malabsorption, Hypoplasia of the uterus OMIM:600705
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Abnormality of the urethr... ORPHA:752
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Hypogonadotropic hypogonadism, Secondary amenorrhea, Decreased fertility ORPHA:1643
Retinitis Pigmentosa 59
Cryptorchidism, Renal insufficiency, Micropenis OMIM:613861
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Post-Traumatic Pituitary Deficiency
Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... ORPHA:95619
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Cleft palate ORPHA:1074
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Abnormal external genitalia, T... ORPHA:90794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, Cryptorchidism, External genital hypoplasia, Hypogonadism ORPHA:363741
Premature Ovarian Failure 2B
Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency OMIM:300604
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Androgen Insensitivity Syndrome
Labial hypoplasia, Blind vagina, Sparse axillary hair, Absent facial hair, Elevated circulating l... OMIM:300068
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism OMIM:254000
Retinitis Pigmentosa
Type II diabetes mellitus, Hyperinsulinemia, Hypoplasia of penis, Hypogonadism, Obesity, Abnormal... ORPHA:791
Prader-Willi-Like Syndrome
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:398073
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Hypogonadotropic hypogonadism OMIM:615269
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Fine hair, Di... ORPHA:181393
Prader-Willi Syndrome
Infertility, Precocious puberty, External genital hypoplasia, Small pituitary gland, Decreased re... ORPHA:739
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty, Hypogonadism, Obesity ORPHA:141333
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Placental Site Trophoblastic Tumor
Amenorrhea, Metrorrhagia ORPHA:99928
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Hypoplasia of the uterus, Atretic vas deferens, Bicornuate uterus, Reduced sperm... OMIM:137920
Adenohypophysitis
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased male libido, Decreased s... ORPHA:95512
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Thick eyebrow, Truncal obesity ORPHA:3459
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Amenorrhea, Hirsutism, Abnormality of the urethra, Menorrhagia, Oligomenorrhea, Urinary ... ORPHA:2795
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... OMIM:300200
Non-Functioning Pituitary Adenoma
Impotence, Decreased fertility in males, Central adrenal insufficiency, Erectile dysfunction, Hyp... ORPHA:91349
Polycystic Ovary Syndrome 1
Amenorrhea, Hirsutism, Oligomenorrhea, Obesity, Enlarged polycystic ovaries OMIM:184700
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Bardet-Biedl Syndrome 2
Diabetes mellitus, Obesity, External genital hypoplasia, Hypogonadism OMIM:615981
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Abnormal hair quantity, ... ORPHA:457059
Periventricular Nodular Heterotopia 7
Cryptorchidism, Cleft palate OMIM:617201
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Bowen-Conradi Syndrome
Cryptorchidism ORPHA:1270
Vaginal Atresia
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Primary amenorrhea, Cervicitis, Transvers... ORPHA:65681
Mental Retardation Syndrome, Belgian Type
Hypergonadotropic hypogonadism, Diabetes mellitus OMIM:249599
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Primary amenorrhea, Bicornuate uterus, Proteinuria OMIM:191830
Central Precocious Puberty
Premature thelarche, Isosexual precocious puberty, Overgrowth, Abnormality of secondary sexual ha... ORPHA:759
Panhypophysitis
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased male libido, Decreased s... ORPHA:95513
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism OMIM:253320
Young Syndrome
Azoospermia OMIM:279000
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Ectopic kidney, Bicornuate uterus ORPHA:2578
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Cryptorchidism, Hypogonadism OMIM:601794
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
Precocious Puberty, Male-Limited
Precocious puberty in males, Decreased testicular size OMIM:176410
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Male pseudohermaphrod... ORPHA:90790
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Hypopigmentation of hair, Obesity, External genital hypoplasia ORPHA:177910
Hyperostosis Frontalis Interna
Increased circulating prolactin concentration, Irregular menstruation, Diabetes mellitus OMIM:144800
Bardet-Biedl Syndrome 8
Hypospadias, Obesity, Hypogonadism OMIM:615985
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Micropenis, Cleft palate, Primary amenorrhea, Decreased testicular size, C... OMIM:614880
Crandall Syndrome
Pili torti, Hypoplasia of penis, Brittle hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of ... ORPHA:202
Deafness, Conductive, With Malformed External Ear
Hypogonadism OMIM:221300
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty ORPHA:2229
Borjeson-Forssman-Lehmann Syndrome
Micropenis, Delayed puberty, Hypoplasia of the prostate, Obesity, Cryptorchidism OMIM:301900
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle... OMIM:618014
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Hypogonadism OMIM:617119
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Decreased testicular size ORPHA:85287
Bardet-Biedl Syndrome 1
Abdominal obesity, Nephrogenic diabetes insipidus, Hirsutism, Micropenis, Truncal obesity, Decrea... OMIM:209900
Generalized Glucocorticoid Resistance Syndrome
Infertility, Decreased circulating aldosterone level, Precocious puberty, Hirsutism, Increased ci... ORPHA:786
Gestational Choriocarcinoma
Metrorrhagia ORPHA:99926
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Chromosome 18P Deletion Syndrome
High palate, Micropenis, Gonadal dysgenesis, Decreased testicular size, Cryptorchidism OMIM:146390
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Cleft palate OMIM:612370
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Absent facial hair, Abnormality of the hypothalamus-pituitary axi... ORPHA:2183
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis ORPHA:2022
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... OMIM:262600
Perrault Syndrome 5
Hypergonadotropic hypogonadism, Primary amenorrhea, Gonadal dysgenesis OMIM:616138
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism ORPHA:408
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
High palate, Small pituitary gland, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea... OMIM:612702
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Abnormality of the endocrine system, Hirsutism, Unilateral renal agenesis, Aplasia/Hy... OMIM:158330
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... ORPHA:320391
Leukodystrophy, Hypomyelinating, 21
Hypogonadotropic hypogonadism, Cryptorchidism OMIM:619310
Bardet-Biedl Syndrome 7
Obesity, Hypogonadism OMIM:615984
Mucocutaneous Ulceration, Chronic
Vaginal mucosal ulceration OMIM:618287
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, ... ORPHA:478
Myoectodermal Gonadal Dysgenesis Syndrome
Anal atresia, Hypoplasia of the uterus, Unilateral renal agenesis, Elevated circulating luteinizi... OMIM:618419
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Cleft palate, Congenital adrenal hyperplasi... ORPHA:96181
Coffin-Siris Syndrome 9
High palate, Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Del... OMIM:615866
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Micropenis OMIM:300982
Hymen, Imperforate
Amenorrhea, Hematocolpos, Imperforate hymen, Hydrocolpos OMIM:237100
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration, Urinary urgency OMIM:609195
Laurence-Moon Syndrome
Type II diabetes mellitus, Hypoplasia of penis, Renal insufficiency, Displacement of the urethral... ORPHA:2377
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Micropenis, Small for gestational age, Del... OMIM:300148
Rudiger Syndrome
Ovarian cyst, Ureterovesical stenosis, Bicornuate uterus, Micropenis OMIM:268650
Gordon Syndrome
High palate, Cryptorchidism, Cleft palate ORPHA:376
Lipodystrophy, Partial, Acquired, Susceptibility To
Hirsutism, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, ... OMIM:608709
3Q13 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:1621
Popliteal Pterygium Syndrome
Hypoplasia of the uterus, Cleft palate, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, B... OMIM:119500
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Androgen Insensitivity, Partial
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Mccune-Albright Syndrome
Renal phosphate wasting, Renal tubular dysfunction, Increased serum testosterone level, Precociou... ORPHA:562
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Adrenal insufficiency, Central adrenal insufficiency, Delayed puberty, Hypogonadism OMIM:612079
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Hypogonadism ORPHA:2528
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Decreased testi... OMIM:616222
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, Aplas... OMIM:266810
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Male hypogonadism OMIM:307500
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Abnormal external genitalia, Disproportionate tall ... ORPHA:95699
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Spinocerebellar Ataxia, Autosomal Recessive 16
Hypogonadism OMIM:615768
Classic Galactosemia
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... ORPHA:79239
Conductive Deafness-Malformed External Ear Syndrome
High palate, Hypogonadism ORPHA:3216
Fetal Minoxidil Syndrome
Cryptorchidism ORPHA:1918
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle... OMIM:618187
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Hypogonadism OMIM:618681
Non-Syndromic Posterior Hypospadias
Anal atresia, Abnormality of the endocrine system, Cleft palate, Bifid scrotum, Micropenis, Ureth... ORPHA:95706
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hirsutism, Low anterior hairline, Decreased serum testosterone concentration, Sparse eyebrow, Hyp... ORPHA:495875
Prolactinoma
Impotence, Dyspareunia, Decreased fertility in males, Central adrenal insufficiency, Erectile dys... ORPHA:2965
Hypothyroidism, Congenital, Nongoitrous, 8
Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone level, Central hypothyro... OMIM:301033
Tetralogy Of Fallot
Cryptorchidism ORPHA:3303
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Leydig cell n... ORPHA:361
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism OMIM:616816
Ovarian Fibroma
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary ORPHA:314473
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism, Male pseudohermaphroditism, Female external genitalia in individual with 46,XY ka... OMIM:264300
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Alopecia, Hypogonadotropic hypogonadism, Diabetes mell... OMIM:235200
Retinopathy, Pigmentary, And Mental Retardation
Truncal obesity, Hypogonadism OMIM:268050
Microcephaly 16, Primary, Autosomal Recessive
Cryptorchidism OMIM:616681
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased seru... OMIM:604168
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Hypergonadotropic hypogonadism, Secondary amenorrhea, Insulin-resistant diabetes mel... OMIM:268020
Wagr Syndrome
Obesity, Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Renal hypoplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:601186
Congenital Generalized Lipodystrophy
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hypertrichosis, L... ORPHA:528
X-Linked Intellectual Disability, Miles-Carpenter Type
Hypogonadism ORPHA:85283
Pituitary Stalk Interruption Syndrome
Failure to thrive, Hypoplasia of penis, Abnormality of the hypothalamus-pituitary axis, Primary a... ORPHA:95496
Sim1-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Small scrotum... ORPHA:398079
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... OMIM:610489
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cleft palate, Micropenis, Unilateral renal agenesis, Hypogonadotropic hypogonadism, Primary ameno... OMIM:244200
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
High palate, Blind vagina, Bifid scrotum, Micropenis, Glandular hypospadias, Penile hypospadias, ... ORPHA:456328
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Abnormality of the uterus, Horseshoe kidney, Hydronephrosis, Vesico... OMIM:617805
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity, Macroorchidism OMIM:300238
Moynahan Syndrome
Hypogonadism ORPHA:2574
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Hypergonadotropic hypogonadism ORPHA:88637
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Delayed pu... OMIM:614963
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:79085
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Gabriele-De Vries Syndrome
Cryptorchidism OMIM:617557
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Anal atresia, Hypoplasia of the uterus, Cleft palate, Micropenis, Hypospadias, Ovotestis... OMIM:309801
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Chronic kidney disease, Nephrotic syndrome, Uterus didelphys, Proximal renal ... OMIM:146255
Whim Syndrome 1
Abnormal morphology of female internal genitalia, Abnormality of female external genitalia OMIM:193670
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating... ORPHA:64739
Lig4 Syndrome
Amenorrhea, Failure to thrive, Micropenis, Hypothyroidism, Cryptorchidism OMIM:606593
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cleft palate, Decreased testicular size, Micropenis OMIM:614838
Premature Ovarian Failure 12
Primary amenorrhea OMIM:616947
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Dysmyelination With Jaundice
Hydroureter, Cryptorchidism, Hypoplasia of penis, Hydronephrosis OMIM:224250
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614839
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size OMIM:614858
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Absence of pubertal development, Hypogonadism OMIM:615267
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Abnormality of the ureter, Hypogonadism, Obesity, Cryptorchidism ORPHA:3409
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome
Hypogonadotropic hypogonadism ORPHA:2560
Diencephalic Syndrome
Cachexia, Abnormality of the hypothalamus-pituitary axis, Decreased body weight, Long penis ORPHA:1672
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism ORPHA:250994
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormal penis morphology, Unilateral cryptorchidism, Testicular mass, Bilatera... ORPHA:457083
Cidec-Related Familial Partial Lipodystrophy
Pancreatitis, Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycy... ORPHA:435651
Mmep Syndrome
Cryptorchidism ORPHA:3434
48,Xxyy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Tall stature, Hypergonadotropic hypo... ORPHA:10
Ataxia-Telangiectasia
Failure to thrive, Premature graying of hair, Type II diabetes mellitus, Hypopigmentation of hair... ORPHA:100
Silver-Russell Syndrome 3
Ambiguous genitalia, Cryptorchidism, Hypospadias OMIM:616489
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism ORPHA:2489
Morm Syndrome
Truncal obesity, Micropenis ORPHA:75858
Megalencephaly
Macroorchidism, Truncal obesity, Long penis ORPHA:2477
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, High, narrow palate, Hypoplasia of penis, Cryptor... ORPHA:2849
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Myotonic Dystrophy 1
Cholelithiasis, Frontal balding, Testicular atrophy, Hypogonadism OMIM:160900
Borjeson-Forssman-Lehmann Syndrome
Thick eyebrow, Hypoplasia of penis, Sparse hair, Truncal obesity, Decreased testicular size, Hypo... ORPHA:127
Preeclampsia
Chronic kidney disease, Small for gestational age, Increased body mass index, Type I diabetes mel... ORPHA:275555
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Unilateral renal agenesis, Testicular seminoma, Renal insufficiency,... ORPHA:281090
Trisomy 5P
Obesity, Hypoplasia of penis ORPHA:1742
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Delayed puberty, Hypogonadism OMIM:615270
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Primary amenorrhea, Obesity OMIM:600955
46,Xy Sex Reversal 10
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla... OMIM:616425
Meacham Syndrome
Abnormal vagina morphology, Hypoplasia of penis, Hydrometrocolpos, Crossed fused renal ectopia, A... ORPHA:3097
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
High palate, Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Long penis, Clitoral hy... OMIM:262190
Pituitary Gigantism
Amenorrhea, Pituitary growth hormone cell adenoma, Increased circulating insulin-like growth fact... ORPHA:99725
Lipodystrophy, Familial Partial, Type 3
Hirsutism, Hyperinsulinemia, Type II diabetes mellitus, Oligomenorrhea, Primary amenorrhea, Mater... OMIM:604367
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Hypogonadism OMIM:251240
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Precocious puberty, Congenital hypothyroidism, Renal salt wasting OMIM:614736
Perrault Syndrome 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233400
Robinow Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Cryptorchidism, Micropen... ORPHA:97360
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Hypospadias, Congenital hypothyroidism, Diabetes mellitus, Obesity, Cryptorchidism, Re... OMIM:614613
Meckel Syndrome 12
Vaginal atresia, Ureteral hypoplasia, Renal hypoplasia OMIM:616258
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Premature ovarian insufficiency, Goiter OMIM:617175
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Adrenocorticotropic hormone deficiency, Impotence, Precocious puberty, Decreased response to grow... ORPHA:91354
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypertrichosis, Micropenis, Abnormal fallopian tube morphology, Abnormality of the uterus, Pancre... ORPHA:1655
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesi... OMIM:601820
N Syndrome
Hypospadias, Cryptorchidism OMIM:310465
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Graves disease, Primary adrenal insufficien... ORPHA:3143
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Premature pubarche, Cryptorchidism ORPHA:457205
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism ORPHA:1174
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Galactosemia
Failure to thrive, Primary amenorrhea, Oligomenorrhea, Secondary amenorrhea, Renal insufficiency,... ORPHA:352
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Cryptorchidism, Anal atresia, Hypoplasia of penis ORPHA:1381
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydrometrocolpos, Hydroureter, Transverse vaginal septum, Polycystic kidne... OMIM:236700
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
Fetal Akinesia Deformation Sequence 4
High palate, Cryptorchidism OMIM:618393
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Uterus didelphys, Septate vagina, Polycystic kidne... ORPHA:2237
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Micropenis, Hypospadias, Hypercalciuria, A... OMIM:614732
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Impotence, Diabetes mellitus, Hypogonadism ORPHA:79230
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating luteinizing hormone level, Elevated circulating follicle sti... OMIM:176400
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome