Prediction of premature ovarian insufficiency: foolish fallacy or feasible foresight?

Nelson, S. M. and Anderson, R. A. (2021) Prediction of premature ovarian insufficiency: foolish fallacy or feasible foresight? Climacteric, 24(5), pp. 438-443. (doi: 10.1080/13697137.2020.1868426) (PMID:33522318)

Abstract

Prediction of premature ovarian insufficiency (POI) would be of substantial individual benefit, but being a heterogeneous and fluctuating condition, with an extensive range of complex etiologies and arbitrary diagnostic criteria, might make this seem foolhardy. However, contemporary and complementary genetic strategies assessing consanguineous and large POI pedigrees and cohorts with age at natural menopause have shown strong enrichment in genes regulating DNA damage repair, homologous recombination, and meiosis, processes that are critical to oogenesis and folliculogenesis. Recognition of the molecular architecture of POI and its contribution to baseline genotypic risk may enable these estimates to be refined further by estimation of the residual ovarian reserve. Increasing data derived from spontaneous and gonadotoxic-induced POI cohorts demonstrate the utility of anti-Müllerian hormone (AMH) to predict POI. This review presents current understanding of how genetics in combination with AMH may facilitate the prediction of POI.

• Item Type: Articles
• Additional Information: The authors’ work in this field is supported by grants from the Medical Research Council (MRC) [G1100357 to R.A.A.], [MR/N022556/1 to the MRC Centre for Reproductive Health].
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Nelson, Professor Scott
• Authors: Nelson, S. M., and Anderson, R. A.
• College/School: College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
• Journal Name: Climacteric
• Publisher: Taylor & Francis
• ISSN: 1369-7137
• ISSN (Online): 1473-0804
• Published Online: 31 January 2021
• Copyright Holders: Copyright © 2021 Informa UK Limited, trading as Taylor & Francis Group
• First Published: First published in Climacteric 24(5): 438-443
• Publisher Policy: Reproduced in accordance with the copyright policy of the publisher