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
Sparse body hair, Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, I... ORPHA:432
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse pubic hair, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Spar... 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
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing hormone stimu... OMIM:616030
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h... OMIM:202150
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... OMIM:614839
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased serum testosterone concentration, Decreased te... OMIM:614897
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Dec... ORPHA:168563
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Unilateral renal agenesis, Sparse pubic hair, Decreased serum testosterone concent... OMIM:308700
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Sparse pubic hair, Hypothalamic gonadotropin-releasing hormone deficie... OMIM:308750
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentra... OMIM:300869
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Dec... OMIM:620651
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Sparse pubic hair, Sparse axillary hair, Decreased ... ORPHA:52901
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased serum testosterone concent... ORPHA:163976
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty... ORPHA:453533
Cone-Rod Dystrophy 1
Hypogonadism OMIM:600624
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163971
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Elevate... OMIM:612964
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:261534
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Normosmic Congenital Hypogonadotropic Hypogonadism
Sparse body hair, Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, I... ORPHA:432
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Abnorma... OMIM:620103
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi... ORPHA:90796
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
46,Xy Sex Reversal 3
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Ambiguo... OMIM:612965
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Decreased circulating... OMIM:619761
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Hypogonadotropic hypogonadism ORPHA:1180
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... OMIM:615300
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Hypogonadism, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis ORPHA:85274
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... OMIM:615363
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Absence of pubertal development, Decreased testicular size, Cryptorchidism, Hypogon... OMIM:614840
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... OMIM:612885
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... ORPHA:247768
Deafness, Congenital, With Total Albinism
Hypogonadism OMIM:220900
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Abnormality of thyroid physiology, Corpus cavernosum hypoplasia, Cryptorchidism, Te... OMIM:615542
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea OMIM:300604
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Premature Ovarian Failure 15
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... OMIM:618096
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism OMIM:219050
7P22.1 Microduplication Syndrome
Cryptorchidism ORPHA:314034
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea... ORPHA:785
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Obesity, Primary amenorrhea, Micropenis, Decreased serum... OMIM:614962
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration OMIM:215470
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Increased serum estradiol, ... ORPHA:90797
Bardet-Biedl Syndrome 5
Hypogonadism, External genital hypoplasia, Micropenis, Obesity OMIM:615983
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed... OMIM:614324
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Infertility, Menorrhagia ORPHA:397685
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Frasier Syndrome
Focal segmental glomerulosclerosis, Decreased serum estradiol, Nephrotic syndrome, Streak ovary, ... ORPHA:347
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Low posterior hairline, Chordee, Abnor... ORPHA:1772
Isolated Growth Hormone Deficiency, Type Ib
Decreased response to growth hormone stimulation test, Micropenis, Reduced circulating growth hor... OMIM:612781
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Deleted in azoospermia
Azoospermia OMIM:400003
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... OMIM:613986
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Sparse body hair, Hypogonadism, Decreased testicular size, Cryptorchidism, Tru... ORPHA:261483
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Primary amenorrhea, Hypergonadotropic hypogonadism, Gonadal dysgenesis OMIM:607080
46,Xy Sex Reversal 5
Abnormal female external genitalia morphology, Abnormality of circulating cortisol level, Abnorma... OMIM:613080
Bardet-Biedl Syndrome 6
External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia, Hypospadias, Diabetes mellitus OMIM:605231
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Thick eyebrow, Cryptorchidism OMIM:309585
Spastic Paraparesis And Deafness
Hypogonadism OMIM:312910
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Sparse pubic hair, Aplasia/hypoplasia of the uterus, Gonadal dysgenesi... ORPHA:243
Bardet-Biedl Syndrome 10
Hypogonadism, Renal cyst, Obesity, Renal insufficiency OMIM:615987
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Secondary amenorrhea, Elevate... OMIM:619938
Premature Ovarian Failure 16
Reduced antral follicle count, Decreased serum estradiol, Elevated circulating follicle stimulati... OMIM:618723
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Renal ... OMIM:194072
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr... OMIM:305400
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Premature Ovarian Failure 17
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... OMIM:619146
Seckel Syndrome 7
Hypoplasia of the uterus, Central hypothyroidism, Primary amenorrhea OMIM:614851
Hao-Fountain Syndrome
Premature adrenarche, Micropenis, Cryptorchidism OMIM:616863
46,Xy Sex Reversal 4
Gonadal dysgenesis, Ureteropelvic junction obstruction, Hydronephrosis, Hypoplastic labia majora,... OMIM:154230
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentr... OMIM:201100
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Ectopic kidn... OMIM:601076
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse pubic hair, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Spar... OMIM:146110
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Ambiguous genitalia, male, Amb... ORPHA:753
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... OMIM:400044
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the fallopian tube, Increased circulating dehydroepiandrost... OMIM:158330
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity, Decreased fertility, Low posterior hairline, Abnormal hair quantity, Abnor... ORPHA:2233
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Hirsutism, Abnormal endometrium mo... ORPHA:314478
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism ORPHA:1014
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism, Renal cyst OMIM:615982
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Absence of pubertal development, Obesity, Cryptorchidism, Hypogonadotr... OMIM:610628
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Cryptorchidism, ... ORPHA:3085
Amed Syndrome, Digenic
Hypoplasia of the uterus, Adrenal hypoplasia OMIM:619151
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
Spastic Paraparesis-Deafness Syndrome
Hypogonadism ORPHA:2815
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Premature Ovarian Failure 11
Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Micropenis, Perineal hypospadias, Abnor... OMIM:264600
Cataract-Deafness-Hypogonadism Syndrome
Hypogonadism ORPHA:1383
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Sparse pubic hair, Brea... ORPHA:3044
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the testes, Cryptorchidism, Obesity ORPHA:3055
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Tall stature, Obesity, Female ... ORPHA:91
Gordon Holmes Syndrome
Absence of pubertal development, Hypogonadotropic hypogonadism, Oligomenorrhea, Primary amenorrhe... OMIM:212840
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Small scrotum, Sparse body hair, Hypogonadism, Decreased testicular size, Obesity, Abnormality of... ORPHA:2234
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618014
Ovarian Dysgenesis 1
Primary amenorrhea, Increased circulating gonadotropin level, Gonadal dysgenesis OMIM:233300
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... ORPHA:2410
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Cleft palate ORPHA:1074
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Alopecia, Small for gestational age, Insulin-resistant diabetes mellit... ORPHA:2959
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:609441
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Secondary ameno... OMIM:301033
Spermatogenic Failure 17
Male infertility OMIM:617214
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased circulating ... ORPHA:95619
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased c... ORPHA:226307
Bardet-Biedl Syndrome 16
Hypogonadism, External genital hypoplasia, Stage 5 chronic kidney disease, Renal insufficiency, O... OMIM:615993
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Premature Ovarian Failure 2A
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Elevated circula... OMIM:300511
Cortisone Reductase Deficiency 1
Precocious puberty, Alopecia, Obesity, Hirsutism, Oligomenorrhea, Infertility OMIM:604931
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... ORPHA:3411
Mehmo Syndrome
External genital hypoplasia, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis, Diabetes m... ORPHA:85282
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
N Syndrome
Hypospadias, Cryptorchidism ORPHA:2608
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... OMIM:250790
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Hypogonadism, Obesity, Hydronephrosis, Vaginal atresia, Cystic ren... OMIM:615989
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
Progesterone Resistance
Female infertility OMIM:264080
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98754
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Invasive Mole
Menometrorrhagia ORPHA:99925
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased circulating renin level, Polycystic ovaries... ORPHA:90795
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia OMIM:615703
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating hormone concentration,... ORPHA:280356
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98793
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... OMIM:277000
Oliver-Mcfarlane Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Long eyelashes, Cryptorchidism, ... OMIM:275400
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177901
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Meningioma
Secondary growth hormone deficiency, Decreased serum estradiol, Urinary incontinence, Hypothalami... ORPHA:2495
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Sparse pubic hair, Sparse axillary hair, Elevated... OMIM:300068
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Image Syndrome
Hypogonadism, Cryptorchidism, Hydronephrosis, Adrenal hypoplasia, Hypospadias ORPHA:85173
Polyembryoma
Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio... ORPHA:180229
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism ORPHA:363741
Deafness, Conductive, With Malformed External Ear
Hypogonadism OMIM:221300
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Hypogonadotropic hypogonadism OMIM:615269
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Thick eyebrow, Cryptorchidism, Truncal obesity ORPHA:3459
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Hypospadias ORPHA:141333
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, High palate, Increased circulating gonado... OMIM:110100
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Maturity-onset diabetes of the young, Pancreatic hyp... OMIM:137920
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Abnormality of the urethra, Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphrodi... ORPHA:752
Prader-Willi Syndrome
Precocious puberty, Small scrotum, Premature adrenarche, Small pituitary gland, Decreased circula... ORPHA:739
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... OMIM:300200
Bardet-Biedl Syndrome 2
Hypogonadism, External genital hypoplasia, Diabetes mellitus, Obesity OMIM:615981
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Polycystic Ovary Syndrome 1
Obesity, Hirsutism, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Proteinuria, Bicornuate uterus, Primary amenorrhea OMIM:191830
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Bowen-Conradi Syndrome
Cryptorchidism ORPHA:1270
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Hypogonadism, Cryptorchidism, Hypothyroidi... ORPHA:3363
47,Xyy Syndrome
Varicocele, Tall stature, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligoz... ORPHA:8
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... OMIM:615962
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Ectopic kidney, Aplasia/hypoplasia of the uterus ORPHA:2578
Young Syndrome
Azoospermia OMIM:279000
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Primary amenorrhea, Hypogonadotropic hypogonadism, Cryptorchidism, Decreased testicular size OMIM:614858
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries, Hirs... ORPHA:2795
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Placental Site Trophoblastic Tumor
Amenorrhea, Metrorrhagia ORPHA:99928
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Obesity, Cryptorchidism OMIM:601794
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Renal salt wasting, Abnormal cir... ORPHA:90794
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
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
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity, Hypospadias OMIM:615985
Meckel Syndrome 12
Bifid uvula, Renal hypoplasia, Vaginal atresia, Hypoplasia of the uterus, Ureteral hypoplasia OMIM:616258
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity, Hypopigmentation of hair ORPHA:177910
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Hypogonadism, Aplasia/Hypoplasia of the eyebrow, Brittle h... ORPHA:202
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Ureteral agenesis, Hypoplasia of the uterus, Renal hypoplasia OMIM:617914
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of the prostate, Obesity, Cryptorchidism, Delayed puberty, Micropenis OMIM:301900
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Obesity, Hirsutism, Abdominal ... OMIM:209900
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Low posterior hairline, Sparse facial hair, Absent facial hair, Abnormality... ORPHA:2183
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita... OMIM:614736
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Endocardial Fibroelastosis
Hypoplasia of penis, Anterior hypopituitarism, Cryptorchidism ORPHA:2022
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism ORPHA:408
Gestational Choriocarcinoma
Metrorrhagia ORPHA:99926
X-Linked Intellectual Disability, Siderius Type
Decreased testicular size, Cryptorchidism ORPHA:85287
Leukodystrophy, Hypomyelinating, 21
Hypogonadotropic hypogonadism, Cryptorchidism OMIM:619310
Perrault Syndrome 5
Primary amenorrhea, Hypergonadotropic hypogonadism, Gonadal dysgenesis OMIM:616138
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Delayed puberty,... OMIM:615866
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Kallmann Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Breast hypoplasia, H... ORPHA:478
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration, Urinary urgency OMIM:609195
Mehmo Syndrome
Male hypogonadism, Decreased response to growth hormone stimulation test, Obesity, Delayed pubert... OMIM:300148
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hypogonadotropic hypogonadism OMIM:615266
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus, Cryptorchidism, Renal insufficiency, Displacement of the uret... ORPHA:2377
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ureterovesical stenosis, Ovarian cyst OMIM:268650
3Q13 Microdeletion Syndrome
Hypoplasia of penis, Cryptorchidism ORPHA:1621
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplastic labia majo... OMIM:618187
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Hypogonadotropic hypogonadism, Decreased ... OMIM:600955
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Cleft palate OMIM:612370
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am... OMIM:612702
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hy... OMIM:618419
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Gordon Syndrome
High palate, Cryptorchidism, Cleft palate ORPHA:376
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism OMIM:254000
Popliteal Pterygium Syndrome
Small scrotum, Bifid uvula, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia o... OMIM:119500
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A... ORPHA:320391
Cortisone Reductase Deficiency 2
Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature... OMIM:614662
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ... OMIM:266810
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:79085
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Conductive Deafness-Malformed External Ear Syndrome
Hypogonadism, High palate ORPHA:3216
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, High palate ORPHA:2528
Non-Syndromic Posterior Hypospadias
Urethral diverticulum, Bifid scrotum, Androgen insufficiency, Cryptorchidism, Displacement of the... ORPHA:95706
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Ziegler-Huang Syndrome
Hypogonadism, Cryptorchidism, Elevated circulating follicle stimulating hormone level, Anterior p... OMIM:620501
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Proteinuria, Hematuria, Hirsutism, Membranoproliferative glomerulonephritis, ... OMIM:608709
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Sparse eyebrow, Decreased serum testosterone concentration, Long eyelashes, Absent s... ORPHA:495875
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Obesity, Type II diabe... ORPHA:254516
Fetal Minoxidil Syndrome
Cryptorchidism ORPHA:1918
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Spinocerebellar Ataxia, Autosomal Recessive 16
Hypogonadism OMIM:615768
Weiss-Kruszka Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism ORPHA:502430
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Decreased serum insulin-like growth factor 1, Del... ORPHA:79239
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Insulin-resistant diabetes mellitus, Polycystic ovaries, Sparse hair, Secondary amenorrhea, Hyper... OMIM:268020
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:435651
Bardet-Biedl Syndrome 19
Renal hypoplasia, Hypogonadism, External genital hypoplasia, Obesity, Renal insufficiency, Hydron... OMIM:615996
Lessel-Kubisch Syndrome
Hypogonadism, Renal hypoplasia, Renal insufficiency OMIM:618681
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormal circulating androgen level, Increased circulating ACTH level, Abnormal female external g... ORPHA:90790
Tetralogy Of Fallot
Cryptorchidism ORPHA:3303
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia OMIM:613571
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... ORPHA:786
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Colonic atresia, Anteriorly placed anus, Ovotestis, Chordee, Anal atresia, ... OMIM:309801
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Cryptorchidism, Hypothyroidism, Delayed puberty, ... ORPHA:95496
Narcolepsy Type 1
Precocious puberty, Male sexual dysfunction, Female sexual dysfunction, Obesity, Nocturia ORPHA:2073
Wagr Syndrome
Obesity, Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Hemochromatosis, Type 1
Impotence, Alopecia, Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, ... OMIM:235200
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Penoscrotal hypospadias... ORPHA:456328
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res... ORPHA:91354
X-Linked Intellectual Disability, Miles-Carpenter Type
Hypogonadism ORPHA:85283
Whim Syndrome 1
Abnormal female external genitalia morphology, Abnormal morphology of female internal genitalia OMIM:193670
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Infertility, Male pseudohermaphroditism, Hypothyroidism, Female external genitalia in individual ... OMIM:264300
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Abnormality of the uterus, Horseshoe kidney, Vesicoureteral reflux,... OMIM:617805
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small scrotum, Absence of pubertal development, Type II diabetes mellitus, ... ORPHA:398079
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism ORPHA:250994
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Bilateral cryptorchidism, Abnormal scrotum morphology... ORPHA:457083
Morm Syndrome
Micropenis, Truncal obesity ORPHA:75858
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism, Obesity OMIM:300238
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Hypergonadotropic hypogonadism ORPHA:88637
Premature Ovarian Failure 12
Primary amenorrhea OMIM:616947
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Nephrocalcinosis, Uterus didelphys, Septate vagina, Distal renal tubular ... OMIM:146255
Moynahan Syndrome
Hypogonadism ORPHA:2574
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Overgrowth of external ge... ORPHA:528
Microphthalmia, Syndromic 9
Renal hypoplasia, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Hypoplasia of the uterus, Bic... OMIM:601186
Mccune-Albright Syndrome
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... ORPHA:562
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614880
Prolactinoma
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... ORPHA:2965
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:244200
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Decreased testicular size, Obesity, Cry... OMIM:616222
48,Xxyy Syndrome
Decreased testicular size, Azoospermia, Tall stature, Type II diabetes mellitus, Cryptorchidism, ... ORPHA:10
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Delayed puberty, Pituitary hypoth... OMIM:614963
Diencephalic Syndrome
Cachexia, Long penis, Abnormality of the hypothalamus-pituitary axis, Decreased body weight ORPHA:1672
Microcephaly 16, Primary, Autosomal Recessive
Cryptorchidism OMIM:616681
Urban-Rogers-Meyer Syndrome
Hypogonadism, Abnormality of the ureter, Obesity, Cryptorchidism, Hypoplasia of penis ORPHA:3409
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Robinow Syndrome
Webbed penis, Small scrotum, Multicystic kidney dysplasia, High anterior hairline, Decreased seru... ORPHA:97360
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Meacham Syndrome
Abnormal vagina morphology, Hydrometrocolpos, Horseshoe kidney, Crossed fused renal ectopia, Cryp... ORPHA:3097
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormality of the uterus, Hypertrichosis, Pancreatic lymphangiectasis, Cryptorchidism, Hydroneph... ORPHA:1655
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... OMIM:102200
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Failure to thrive, Premature graying of hair, Type II diabetes ... ORPHA:100
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Hypogonadism, Abnormal stomach morphology, Renal insufficiency, Crypto... ORPHA:281090
Megalencephaly
Macroorchidism, Long penis, Truncal obesity ORPHA:2477
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism ORPHA:2489
Trisomy 5P
Hypoplasia of penis, Obesity ORPHA:1742
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hypogonadism, Absence of pubertal development OMIM:615267
Perrault Syndrome 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Diabetes mellitus, Polycystic ovaries ORPHA:79084
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Borjeson-Forssman-Lehmann Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Thick eyebrow, Cryptorchidism, Truncal ob... ORPHA:127
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Frontal balding, Hypogonadism OMIM:160900
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog... ORPHA:435660
N Syndrome
Hypospadias, Cryptorchidism OMIM:310465
Perlman Syndrome
High, narrow palate, Abnormal pancreas morphology, Hyperinsulinemia, Cryptorchidism, Hypoplasia o... ORPHA:2849
Mmep Syndrome
Cryptorchidism ORPHA:3434
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism ORPHA:1174
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... ORPHA:99725
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Bilateral cryptorchidism OMIM:300982
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cryptorchidism, Premature pubarche ORPHA:457205
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Hypogonadism, Decreased testicular size, Long eyelashes, Cryptorchidism, L... OMIM:300882
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Secondary amenorrhea, Goiter OMIM:617175
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Type I diabetes mellitus, Cryptorchidism, Proteinuria, Nephrotic syndrome ORPHA:1192
Lipodystrophy, Familial Partial, Type 3
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... OMIM:604367
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities