Male Reproductive Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Male Reproductive Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Male Reproductive Diseases

---

17-alpha-hydroxylase deficiency 
17-beta hydroxysteroid dehydrogenase 3 deficiency 
46,XX testicular disorder of sex development 
48,XYYY 
49,XXXXY syndrome 
5-alpha reductase deficiency 
ACTH-independent macronodular adrenal hyperplasia 
ACTH-secreting pituitary adenoma 
Addison's disease 
Adrenocortical carcinoma 
Adrenomyeloneuropathy 
Androgen insensitivity syndrome 
Androgen insensitivity syndrome, mild 
Anorchia 
Aromatase deficiency 
Ataxia - hypogonadism - choroidal dystrophy 
Autosomal recessive polycystic kidney disease 
Bardet-Biedl syndrome 
Bardet-Biedl syndrome 1 
Bardet-Biedl syndrome 10 
Bardet-Biedl syndrome 11 
Bardet-Biedl syndrome 12 
Bardet-Biedl syndrome 2 
Cerebellar ataxia and hypogonadotropic hypogonadism 
CHARGE syndrome 
Childhood-onset cerebral X-linked adrenoleukodystrophy 
Combined pituitary hormone deficiencies, genetic forms 
Complete androgen insensitivity syndrome 
Congenital bilateral absence of the vas deferens 
Cushing's syndrome 
Cystic fibrosis 
Deafness hypogonadism syndrome 
Deafness-infertility syndrome 
Dilated cardiomyopathy with hypergonadotropic hypogonadism 
Follicle-stimulating hormone deficiency, isolated 
Globozoospermia 
Hansen's disease 
Hydrocephalus obesity hypogonadism 
Kallmann syndrome 
Kallmann syndrome 1 
Kartagener syndrome 
Kennedy disease 
Laurence-Moon syndrome 
Lubinsky syndrome 
Macrozoospermia 
Martsolf syndrome 
Myotonic dystrophy type 1 
Myotonic dystrophy type 2 
Noonan syndrome 
Noonan syndrome 1 - See Noonan syndrome 
Noonan syndrome 2 - See Noonan syndrome 
Noonan syndrome 3 - See Noonan syndrome 
Noonan syndrome 4 - See Noonan syndrome 
Noonan syndrome 5 - See Noonan syndrome 
Noonan syndrome 6 - See Noonan syndrome 
Obesity due to congenital leptin deficiency 
Panhypopituitarism X-linked 
Partial androgen insensitivity syndrome 
Persistent Mullerian duct syndrome 
Peyronie disease - Not a rare disease 
Postorgasmic illness syndrome 
Primary ciliary dyskinesia 
Primary pigmented nodular adrenocortical disease 
Prostatic malacoplakia associated with prostatic abscess 
Sertoli cell-only syndrome 
Sickle beta thalassemia 
Sickle cell anemia 
Trichothiodystrophy 
Woodhouse Sakati syndrome 
X-linked adrenal hypoplasia congenita 
Young syndrome