Prevalence and genetic etiology of poly-cystic ovarian syndrome (PCOS) in Mauritania

Marieme Elwafi; Abdi Ahmed; Omar Akhouayri; Ahmed Zein; Hamma Abdelkader; Roughaya Selman; Ahmed Houmeida

doi:10.3389/frph.2025.1461405

Prevalence and genetic etiology of poly-cystic ovarian syndrome (PCOS) in Mauritania

Front Reprod Health. 2025 Jun 9:7:1461405. doi: 10.3389/frph.2025.1461405. eCollection 2025.

Authors

Marieme Elwafi¹, Abdi Ahmed^{2

3}, Omar Akhouayri⁴, Ahmed Zein^{2

5}, Hamma Abdelkader⁵, Roughaya Selman¹, Ahmed Houmeida¹

Affiliations

¹ Biomarker Research Unit for Mauritanian Populations, Faculty of Science and Technology, Nouakchott University, Nouakchott, Mauritania.
² Gynecology Department, Faculty of Medicine, Nouakchott University, Nouakchott, Mauritania.
³ Department of Obstetrics and Gynecology, El Manar Clinic, Nouakchott, Mauritania.
⁴ Biology and Health Laboratory, Faculty of Sciences Kenitra, Ibn Tofail University, Kenitra, Morocco.
⁵ Department of Obstetrics and Gynecology, Towfik Clinic, Nouakchott, Mauritania.

Abstract

Background: Polycystic ovary syndrome (PCOS) is a common endocrine and metabolic disorder characterized by polycystic ovaries, oligoanovulation, hyperandrogenism and infertility. The exact specific causes of this disease have not yet been identified, but there is evidence of significant genetic involvement.

Objective: The present study aimed to evaluate the prevalence of PCOS and explore its gene polymorphisms in the Mauritanian population.

Material and methods: Files of 2,100 women patients attending two gynaecologic clinics of Nouakchott were retrospectively analysed to identify PCOS patients based on the 2003 Rotterdam Criterion. A genetic study used Sanger sequencing to search for six known SNPs in LHCGR (rs2293275), FSHR (rs6166), ESR1 (rs2234693), GnRHR (rs104893836), miR-126 (rs4636297), and miR-499 (rs3746444) among 8 familial PCOS cases and 3 sporadic patients. A more extended search was then carried out exclusively for LHCGR rs2293275 on 56 PCOS patients.

Results: The prevalence of PCOS was 7.8% in this cohort. The occurrence of LHCGR rs2293275 (T>C, G; p. Asn 312 Ser) and ESR1 rs2234693 (T>C, G) polymorphisms in the PCOS screened patients suggests a likely association of these variants with the disease. However, rs104893836 polymorphism was not found in any of the tested PCOS cases.

Conclusion: Although yet to be confirmed in larger size cohort, these data could contribute to improving the exploration, referral, and treatment of PCOS in Mauritania.

Keywords: Mauritania; PCOS; etiology; genetics; prevalence.