Journal of Assisted Reproduction and Genetics

, Volume 35, Issue 8, pp 1483–1488 | Cite as

“Evaluation of four genes associated with primary ovarian insufficiency in a cohort of Mexican women”

  • K. J. Juárez-Rendón
  • J. E. García-OrtizEmail author



Primary ovarian insufficiency (POI) is a clinical condition observed in women younger than 40 years of age, characterized by amenorrhea, hypoestrogenism, high levels of follicle-stimulating hormone (FSH), and infertility. Mutations in some master regulators of the development, maturation, and maintenance of ovarian follicles such as BMP15, FSHR, FOXL2, and GDF9 have been suggested as etiological factors in the development of POI. The aim of this study, the first in the Mexican population, is to evaluate the presence of mutations or polymorphisms in these four candidate genes.


In a sample of 20 Mexican patients with idiopathic POI, we looked for and analyzed genetic variants in BMP15, FSHR, FOXL2, and GDF9 genes.


We observed two polymorphisms: a coding change, c.919G>A (p.Ala307Thr), in the FSHR gene and a synonymous variant, c.447C>T (p.Thr149Thr), in the GDF9 gene. These two variants have been reported previously as polymorphisms (rs6165 and rs254286, respectively). We observed no significant difference associated with POI in the patients when compared with a healthy control group (p > 0.05). Also, no exonic variants were found for the genes BMP15 and FOXL2 in the individuals tested.


The lack of association of the evaluated genes in this sample of Mexican women is consistent with the complex genetic etiology of POI that is observed across cohorts studied thus far.


Primary ovarian insufficiency BMP15 FSHR FOXL2 GDF9 Mexican population 


Compliance with ethical standards

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.


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© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.CONACyT Research Fellow-Centro de Biotecnología Genómica, Instituto Politécnico NacionalLaboratorio de Medicina de ConservaciónReynosaMexico
  2. 2.División de Genética, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Laboratorio de Bioquímica 1BInstituto Mexicano del Seguro SocialGuadalajaraMexico
  3. 3.Dirección de Educación e Investigación en Salud, UMAE, Hospital de Gineco-Obstretricia, Centro Médico Nacional de OccidenteInstituto Mexicano del Seguro SocialGuadalajaraMexico

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