Avtor/Urednik		Ferk, Polonca; Geršak, Ksenija
Naslov		Genetic background of polycystic ovary syndrome - review
Prevedeni naslov		Genetsko ozadje sindroma policističnih jajčnikov - pregled
Tip		članek
Vir		In: Luzar B, Poljak M, Glavač D, et al, editors. Molekularna diagnostika v medicini. Zbornik 15. spominsko srečanje akademika Janeza Milčinskega, 36. memorialni sestanek profesorja Janeza Plečnika, 1. srečanje Slovenskega društva za humano genetiko z mednarodno udeležbo; 2005 30 nov - 2 dec; Ljubljana. Ljubljana: Medicinska fakulteta,
Leto izdaje		2005
Obseg		str. 279-85
Jezik		eng
Abstrakt		Polycystic ovary syndrome (PCOS) is a common endocrinopathy in women of reproductive age. It is an extremely heterogeneous disorder, with menstrual cycle abnormalities, hyperandrogenemia and hyperandrogenism, insulin resistance with compensatory hyperinsulinemia and obesity as the main characteristics. Based on familial clustering of cases, a genetic background for PCOS is considered. An autosomal dominant pattern of inheritance has been proposed, while pathogenesis is suggested to be oligogenic and multifactorial. Numerous PCOS candidate genes have been investigated, including (i) genes involved in androgen production and action (genes encoding steroidogenic enzymes, androgen receptor, sex hormone-binding globulin) and (ii) genes involved in insulin secretion and action (genes encoding insulin receptor, insulin, insulin-like growth factor II). The results from different studies are contradictory, suggesting that key PCOS genes have yet to be identified. New genetic approaches, such as microarray technology, hold promise for elucidating pathophysiological mechanisms of several human diseases. including PCOS.
Deskriptorji		POLYCYSTIC OVARY SYNDROME