Abstract
Polycystic ovary syndrome (PCOS) is a heterogeneous disorder. There is evidence for a genetic component in PCOS based on familial clustering of cases. The majority of the evidence supports an autosomal dominant form of inheritance. Steroidogenesis has been shown to be upregulated in PCOS theca cells, suggesting that the genetic abnormality in PCOS affects signal transduction pathways controlling the expression of a family of genes. Although a number of candidate genes have been proposed, the putative PCOS gene(s) has yet to be identified. Linkage and association studies implicate a region near the insulin receptor gene at chr 19p13.3. New genetic approaches, such as microarray technology, hold promise for elucidation of the pathophysiology underlying PCOS.
Original language | English (US) |
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Pages (from-to) | 707-718 |
Number of pages | 12 |
Journal | Best Practice and Research: Clinical Obstetrics and Gynaecology |
Volume | 18 |
Issue number | 5 SPEC. ISS. |
DOIs | |
State | Published - Oct 2004 |
Externally published | Yes |
Keywords
- Genetics
- Hyperandrogenism
- Polycystic ovaries
ASJC Scopus subject areas
- Obstetrics and Gynecology