menu ☰
menu ˟

A missense mutation in two sisters with primary ovarian insufficiency

04 Aug 2017

Primary ovarian insufficiency (POI), the failure of the ovary to function adequately in a woman younger than 40 years, is a major cause of female infertility. POI, affecting approx. 1% of women worldwide, is an etiologically heterogeneous disorder whose causes include cytogenetic, genetic, autoimmune, infectious, and iatrogenic factors. Although most cases are sporadic, 10–15% of women with POI have an affected first-degree relative, suggesting a significant role of genetics in the development of the disease [1].

Click here to view the full article which appeared in European Journal of Obstetrics & Gynecology and Reproductive Biology