MDNews - Central Pennsylvania

Issue 3, 2020

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Infertility and Recurrent Miscarriage BY JENNA HAINES EMERGING STUDIES ARE E XPLORING THE REL ATIONSHIP BE T WEEN DNA AND MALE INFERTILIT Y. WHILE THE MA JORIT Y of past infertility research has focused on diagnosing and treating infertility in women, fertility issues affect both men and women at approximately the same rate. In fact, according to the National Institutes of Health, roughly one-third of infertility cases are due to male factors, one-third of cases are due to female factors, and one-third of cases are due to problems with both the man and the woman or have no identifiable cause. Recently, researchers are looking to better understand the vary- ing male-related causes of infertility and recurrent miscarriage in the hopes that these findings will lead to better diagnoses and more effective treatments. Two of these studies center around the potential role of genetics. GENETIC MUTATIONS AND INFERTILITY A study presented at the annua l conference of the European Society of Huma n Genetics in June 2019 was able to iden- ti f y a possible relationsh ip bet ween de novo mut ations (DNMs) — genetic mutations not found in either parent — and ma le infertility. Led by Manon Oud, MSc, a PhD candidate at the Radboud University Medica l Centre in Nijmegen, the Netherlands, the research team compared DNA samples from 108 infertile men with DNA samples from their fertile parents. After eliminating nine patients whose cause of infertility lay elsewhere, they were able to identify 83 tota l protein-a ltering DNMs — 22 of which are involved in the production of sperm. " When couples are investigated for fertility issues and recurrent miscarriage, almost all of the investigation is centered around the important role women play. However, having spoken to and treated couples for these issues, I understand how important it is for them to get any extra information they can that could potentially prevent a miscarriage from happening again — regardless of whether the problem is the result of the man or the woman." — CHANNA JAYASENA, MD, PHD, CLINICAL SENIOR LECTURER AND CONSULTANT IN REPRODUCTIVE ENDOCRINOLOGY AND ANDROLOGY AT IMPERIAL COLLEGE AND HAMMERSMITH HOSPITAL IN LONDON, ENGLAND THE MALE FACTOR: 1 4❱❱❱❱❱ S P E C I A l C l I N I C A l S E C T I O N : M E N ' S H E A lT H

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