Polycystic Ovary Syndrome : The Genetic Aspect
Abstract
Introduction
Polycystic ovarian syndrome (PCOS) is a spectrum of diseases comprising the polycystic-like ovary (PCO) together with the symptoms of excess androgen production such as hirsutism, oily skin and acne as well as the manifestations of oligo-ovulation, for instance, oligomenorrhea, secondary amenorrhea, or abnormal uterine bleeding. Patients acquiring this syndrome may also experience difficulty in getting pregnant. The infertility problem in PCOS cases is thought to be due to several causes such as ovulatory disorder and the excess in androgen production resulting in poor quality of follicles and subsequently poor fertilization or low implantation rates. It is noticed for years that PCOS tend to occur in the persons with family history of oligomenorrhea or infertility, and thus the genetic inheritance of PCOS is a reasonable hypothesis. Based on the study of first-degree relatives of women diagnosed with PCOS, it was thought that polycystic ovarian syndrome has some degree of genetic predisposition (1-6). None of these early family studies, however, convincingly established mode of inheritance because too few families were studied, parental phenotypes were not established, and the male phenotype was uncertain. Despite the lack of comprehensive phenotype information, the older literature clearly suggested clustering of PCOS in families, and suggested a mode of inheritance most consistent with an autosomal dominant pattern7. During the past decade, more information regarding the pattern of inheritance of polycystic ovarian syndrome was revealed and thus it is becoming clearer for us to understand the complexity of inheritable route of this syndrome. This article reviews the up-to-date information regarding our current understanding of the genetic component of this syndrome.
