Women's Health Commons^™

Novel Nr5a1 Missense Mutation In Premature Ovarian Failure: Detection In Han Chinese Indicates Causation In Different Ethnic Groups, Xue Jiao, Yingying Qin, Guangyu Li, Shidou Zhao, Li You, Jinlong Ma, Joe Leigh Simpson, Zi-Jiang Chen

HWCOM Faculty Publications

Background

The etiology of most premature ovarian failure (POF) cases is usually elusive. Although genetic causes clearly exist and a likely susceptible region of 8q22.3 has been discovered, no predominant explanation exists for POF. More recently, evidences have indicated that mutations in NR5A1 gene could be causative for POF. We therefore screened for mutations in the NR5A1 gene in a large cohort of Chinese women with non-syndromic POF.

Methods

Mutation screening of NR5A1 gene was performed in 400 Han Chinese women with well-defined 46,XX idiopathic non-syndromic POF and 400 controls. Subsequently, functional characterization of the novel mutation identified was evaluated …

Living With Uncertainty: Acting In The Best Interests Of Women, Erica Gollub, Zena Stein

HWCOM Faculty Publications

A recent multi-country study on hormonal contraceptives (HC) and HIV acquisition and transmission among African HIV-serodiscordant couples reported a statistically significant doubling of risk for HIV acquisition among women as well as transmission from women to men for injectable contraceptives. Together with a prior cohort study on African women seeking health services, these data are the strongest yet to appear on the HC-HIV risk. This paper will briefly review the Heffron study strengths and relevant biological and epidemiologic evidence; address the futility of further trials; and propose instead an alternative framework for next steps. The weight of the evidence calls …