Related Experiment Video
Updated: Jul 17, 2026

Evaluation of Hepatic Glucose Production in a Polycystic Ovary Syndrome Mouse Model
Published on: March 5, 2022
The genetics of the polycystic ovary syndrome
1Division of Endocrinology, Metabolism, and Molecular Medicine and the Center for Genetic Medicine, Northwestern University Medical School, Chicago, IL, USA. m-urbanek@northwestern.edu
Abstract:
Polycystic ovary syndrome (PCOS) is a very common endocrine disorder that has a strong genetic component and is characterized by polycystic ovaries, hyperandrogenemia, and menstrual irregularity. During the past decade, the roles of more than 70 candidate genes have been evaluated for a causal role in PCOS; however, because of genetic and phenotypic heterogeneity and underpowered studies, the results of many of these studies remain inconclusive. Here, the results of the genetic analysis of several candidate genes and gene regions-CYP11A (encoding cytochrome P450, family 11, subfamily A polypeptides), CAPN10 (encoding calpain 10), the insulin gene VNTR (variable number of tandem repeats), and D19S884 (a dinucleotide repeat marker mapping to chromosome 19p13.2)-are discussed in detail. Although past genetic studies of PCOS have yielded only modest results, resources and techniques have been assembled to remedy the major deficits of these early studies, promising that the next few years will be a very exciting and rewarding era for the genetic analysis of PCOS.
Related Concept Videos
Oogenesis
Oogenesis
Each primary oocyte is surrounded by a layer of pre-granulosa cells, forming what is known...
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes
Ovarian Cycle
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Hormonal Control of the Ovarian Cycle
Before puberty, the hypothalamus releases GnRH in a low frequency, low amplitude pulsatile manner. This along with the immature hypothalamic-pituitary-gonadal axis activity, results in low estrogen levels and the absence of a fully functional ovarian cycle. At puberty, GnRH secretion increases in both frequency and...

