CASE REPORT article
Front. Endocrinol.
Sec. Pediatric Endocrinology
Volume 16 - 2025 | doi: 10.3389/fendo.2025.1648940
This article is part of the Research TopicEmerging Therapeutics and Insights in Disorders of Pubertal MaturationView all articles
Hypergonadotropic hypogonadism in an elite athlete with variant in FSH receptor geneclinical and sports implications of proper diagnosis
Provisionally accepted
Monika Skrzypiec-Spring1
Agnieszka Zubkiewicz-Kucharska1*
Magdalena Pasińska2
MIchał Rabijewski3
Robert Smigiel1Adam Szeląg1- 1Wroclaw Medical University, Wrocław, Poland
- 2Uniwersytet Mikolaja Kopernika w Toruniu Collegium Medicum im Ludwika Rydygiera w Bydgoszczy, Bydgoszcz, Poland
- 3Centrum Medycznego Ksztalcenia Podyplomowego, Warsaw, Poland
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Hypergonadotropic hypogonadism is usually caused by the impairment of the structure and function of the gonads, but there are cases caused by reduced stimulation by follicle-stimulating hormone as a result of abnormal variants of genes encoding follicle-stimulating hormone or its receptor. We present the case of an elite athlete with the c.2039A>G variant in one allele of the FSHR gene resulting in hypergonadotropic hypogonadism, low testicular volume and reduced semen parameters, placing particular emphasis on the diagnostic process and the importance of correct diagnosis in the context of possible treatment with gonadotropins, which can significantly improve fertility, increase testosterone levels, and in the case of athletes, obtain approval from the anti-doping organization for treatment that increases testosterone levels.
Keywords: Hypergonadotropic hypogonadism, FSHR gene mutation, Infertility, c.2039A>G variant, FSH treatment
Received: 17 Jun 2025; Accepted: 27 Jul 2025.
Copyright: © 2025 Skrzypiec-Spring, Zubkiewicz-Kucharska, Pasińska, Rabijewski, Smigiel and Szeląg. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Agnieszka Zubkiewicz-Kucharska, Wroclaw Medical University, Wrocław, Poland
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