POLYCYSTIC OVARY SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: STEIN-LEVENTHAL SYNDROME
HYPERANDROGENEMIA
PCOS
PCO1
PCO
PCOS1
Number of Symptoms 14
OrphanetNr:
OMIM Id: 184700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000876) Oligomenorrhea 13 / 7739
2
(HPO:0000141) Amenorrhea 16 / 7739
3
(HPO:0008675) Enlarged polycystic ovaries 14 / 7739
4
(HPO:0001513) Obesity 172 / 7739
5
(HPO:0001007) Hirsutism 91 / 7739
6
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
7
(OMIM) Low estradiol and follicle-stimulating hormone levels 1 / 7739
8
(OMIM) Elevated dehydroepiandrosteronesulfate 1 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
(OMIM) Elevated androstanedione and/or testosterone and luteinizing hormone 1 / 7739
11
(OMIM) Increased 5-alpha-reductase activity in the liver and skin 1 / 7739
12
(OMIM) No virilization 1 / 7739
13
(OMIM) Ovarian histology shows hyperplasia of theca cells in atretic follicles, a paucity of primordial and developing follicles, and stromal hyperplasia 1 / 7739
14
(OMIM) Normal 24-hr urinary ketosteroids 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Stein and Leventhal (1935) demonstrated that obesity, hirsutism, and amenorrhea are clinical correlates of enlarged polycystic ovaries. Thereafter, the criteria were established as bilateral enlarged ovaries, normal 24-hour urinary ketosteroids, and lack of virilization. Response to ovarian wedge ...
Molecular genetics OMIM Obiezu et al. (2001) presented evidence that women with PCOS have highly elevated urinary levels of PSA (176820) and kallikrein-2 (147960), and suggested these 2 serine proteases as promising markers of hyperandrogenism in females suffering from PCOS. ...
Population genetics OMIM Estimates of the prevalence of PCO in the general population have ranged from 2 to 20%. The vast majority of these reports have studied white populations in Europe, used limited definitions of the disorder, and/or used bias populations, ...