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Polycystic Ovary Syndrome: The Genetic Aspect

กลุ่มอาการ Polycystic Ovary Syndrome : มุมมองทางพันธุศาสตร์

สุพัชญ์ สีนะวัฒน์ 1


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.


Genetic aspect of PCOS: Familial studies

During the 1990s, genetic origin of PCOS attracted the interests of several groups of scientists around the world. Family studies of PCOS were thus re-investigated with more careful phenotyping. Although small numbers of families were investigated the findings were suggestive of an autosomal dominant or modified dominant mode of trait inheritance8-10. The study by Legro and colleagues10 was the largest of these, encompassing a prospective analysis of 80 PCOS women and 115 of their sisters. In this study, 22% of the sisters of the affected women fulfilled the diagnostic criteria for PCOS and an additional 24% were hyperandrogenemic but had more than six menses per year. This led to the conclusions that there is familial clustering of hyperandrogenemia with or without oligomenorrhea, and that hyperandrogenemia is inherited as a dominant trait.


The fact that there is concordance of phenotypes in identical twin pairs provides strong evidence for a genetic component of PCOS. Several case reports describe PCOS in monozygotic twins 11,12. A more recent study of 19 monozygotic and 15 dizygotic twins revealed that five and six of the twin pairs, respectively, had discordant ovarian ultrasound scans13, leading the authors to conclude that a PCOS ovarian morphology is not shared by monozygotic twins and that PCOS is not caused by a single autosomal gene. However, it is important to note that the authors did report a significant genetic influence on levels of androstanediol glucuronide in these twin pairs.


PCOS and metabolic imprinting

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Obstetric and Gynecology
Srinagarind Medical Journal,Faculty of Medicine, Khon Kaen University. Copy Right © All Rights Reserved.


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