Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2019 Sep 30;90(10-S):68-74.
doi: 10.23750/abm.v90i10-S.8763.

Non-syndromic monogenic female infertility

Giulia Guerri  1 , 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
Affiliations
Review

Non-syndromic monogenic female infertility

Giulia Guerri et al. Acta Biomed. .

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.

PubMed Disclaimer

Conflict of interest statement

Each author declares that he or she has no commercial associations (e.g. consultancies, stock ownership, equity interest, patent/licensing arrangement etc.) that might pose a conflict of interest in connection with the submitted article

References

    1. Franić-Ivanišević M, Franić D, Ivović M, et al. Genetic etiology of primary premature ovarian insufficiency. Acta Clin Croat. 2016;55:629–35. - PubMed
    1. Beck-Peccoz P, Persani L. Premature ovarian failure. Orphanet J Rare Dis. 2006;1:9. - PMC - PubMed
    1. Kebaili S, Chaabane K, Mnif MF, et al. Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser syndrome in a girl with a 46, XX karyotype: a case report and review of literature. Indian J Endocrinol Metab. 2013;17:505–8. - PMC - PubMed
    1. Ebrahimi M, Akbari Asbagh F. Pathogenesis and causes of premature ovarian failure: an update. Int J Fertil Steril. 2011;5:54–65. - PMC - PubMed
    1. Al-Ajoury R, Kassem E, Al-Halabi B, Moassess F, Al-Achkar W. Investigation of some genetic variations in BMP15 accompanied with premature ovarian failure (POF) in Syrian women. Middle East Fertil Soc J. 2015;20:91–6.

MeSH terms