Non-syndromic monogenic female infertility

Giulia Guerri; Tiziana Maniscalchi; Shila Barati; Sandro Gerli; Gian Carlo Di Renzo; Chiara Della Morte; Giuseppe Marceddu; Arianna Casadei; Antonio Simone Laganà; Davide Sturla; Fabio Ghezzi; Simone Garzon; Vittorio Unfer; Matteo Bertelli

doi:10.23750/abm.v90i10-S.8763

Non-syndromic monogenic female infertility

Authors

Giulia Guerri MAGI’s Lab, Rovereto (TN), Italy
Tiziana Maniscalchi MAGI Euregio, Bolzano, Italy
Shila Barati MAGI Euregio, Bolzano, Italy
Sandro Gerli Department of Surgical and Biomedical Sciences, Section of Obstetrics and Gynecology, University of Perugia, Perugia, Italy
Gian Carlo Di Renzo Department of Surgical and Biomedical Sciences, Section of Obstetrics and Gynecology, University of Perugia, Perugia, Italy
Chiara Della Morte Department of Surgical and Biomedical Sciences, Section of Obstetrics and Gynecology, University of Perugia, Perugia, Italy
Giuseppe Marceddu MAGI Euregio, Bolzano, Italy
Arianna Casadei MAGI Euregio, Bolzano, Italy
Antonio Simone Laganà Department of Obstetrics and Gynecology, Filippo Del Ponte Hospital, University of Insubria, Varese, Italy
Davide Sturla Department of Obstetrics and Gynecology, Filippo Del Ponte Hospital, University of Insubria, Varese, Italy
Fabio Ghezzi Department of Obstetrics and Gynecology, Filippo Del Ponte Hospital, University of Insubria, Varese, Italy
Simone Garzon Department of Obstetrics and Gynecology, Filippo Del Ponte Hospital, University of Insubria, Varese, Italy
Vittorio Unfer Department of Experimental Medicine, Systems Biology Group, University of Rome La Sapienza, Rome, Italy
Matteo Bertelli MAGI Euregio, Bolzano, Italy

DOI: https://doi.org/10.23750/abm.v90i10-S.8763

Keywords:

Female infertility, premature ovarian failure, ovarian dysgenesis, yte maturation defects, pre-implantation embryonic lethality, recurrent pregnancy loss, ovarian hyperstimulation syndrome

Abstract

Infertility is a significant clinical problem. It affects 8-12% of couples worldwide, about 30% of whom are diagnosed with idiopathic infertility (infertility lacking any obvious cause). In 2010, the World Health Organization calculated that 1.9% of child-seeking women aged 20-44 years were unable to have a first live birth (primary infertility), and 10.5% of child-seeking women with a prior live birth were unable to have an additional live birth (secondary infertility). About 50% of all infertility cases are due to female reproductive defects. Several chromosome aberrations, diagnosed by karyotype analysis, have long been known to be associated with female infertility and monogenic mutations have also recently been found. Female infertility primarily involves oogenesis. The following phenotypes are associated with monogenic female infertility: premature ovarian failure, ovarian dysgenesis, oocyte maturation defects, early embryo arrest, polycystic ovary syndrome and recurrent pregnancy loss. Here we summarize the genetic causes of non-syndromic monogenic female infertility and the genes analyzed by our genetic test.

Downloads

Published

30-09-2019

Issue

Vol. 90 No. 10-S (2019): Cardiovascular Diseases (Part A) | Infertility and Metabolic Syndromes (Part B) - Guest Editor: Matteo Bertelli, Stefano Paolacci

Section

REVIEWS

License

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Transfer of Copyright and Permission to Reproduce Parts of Published Papers.
Authors retain the copyright for their published work. No formal permission will be required to reproduce parts (tables or illustrations) of published papers, provided the source is quoted appropriately and reproduction has no commercial intent. Reproductions with commercial intent will require written permission and payment of royalties.

How to Cite

Guerri G, Maniscalchi T, Barati S, Gerli S, Di Renzo GC, Della Morte C, et al. Non-syndromic monogenic female infertility. Acta Biomed [Internet]. 2019 Sep. 30 [cited 2024 Jul. 18];90(10-S):68-74. Available from: https://mattioli1885journals.com/index.php/actabiomedica/article/view/8763

Download Citation