Shared genetics between nonobstructive azoospermia and primary ovarian insufficiency

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The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review

Purpose: Several causes for primary ovarian insufficiency have been described, including iatrogenic and environmental factor, viral infections, chronic disease as well as genetic alterations. Given the large number of genes described in the literature so far, the aim of this review was to collect all the genetic mutations associated with non-syndromic primary ovarian insufficiency. Methods: All...

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Genetics of primary ovarian insufficiency: new developments and opportunities

BACKGROUND Primary ovarian insufficiency (POI) is characterized by marked heterogeneity, but with a significant genetic contribution. Identifying exact causative genes has been challenging, with many discoveries not replicated. It is timely to take stock of the field, outlining the progress made, framing the controversies and anticipating future directions in elucidating the genetics of POI. ...

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Surgical management of nonobstructive azoospermia

Nonobstructive azoospermia (NOA) is characterized by the complete absence of sperm in the ejaculate due to testicular failure. The evaluation and management of patients with NOA offer a challenge to the reproductive urologist. In the era of in vitro fertilization with intracytoplasmic sperm injection, surgical sperm extraction techniques can afford men with NOA biologic paternity. To provide a ...

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Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation.

Context The etiology of primary ovarian insufficiency (POI) remains unknown in most cases. Objective We sought to identify the genes causing POI. Design The study was a familial genetic study. Setting The study was performed at two academic institutions. Patients We identified a consanguineous Yemeni family in which four daughters had POI. A brother had azoospermia. Intervention DNA w...

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Epidemiological studies have demonstrated associations between endometriosis and certain histotypes of ovarian cancer, including clear cell, low-grade serous and endometrioid carcinomas. We aimed to determine whether the observed associations might be due to shared genetic aetiology. To address this, we used two endometriosis datasets genotyped on common arrays with full-genome coverage (3194 c...

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ژورنال

عنوان ژورنال: F&S Reviews

سال: 2021

ISSN: 2666-5719

DOI: 10.1016/j.xfnr.2021.04.001