Non-syndromic monogenic female infertility

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

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.

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Published

30-09-2019

How to Cite

1.
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. 23];90(10-S):68-74. Available from: https://mattioli1885journals.com/index.php/actabiomedica/article/view/8763