Aug 2026· Bulletin of Reproductive Health· Vol 5, pp. 48-52· 0 citations· 11 references
TL;DR
Two clinical cases of patients from the same family with hypogonadotropic hypogonadism caused by a mutation in the WDR11 gene are presented, demonstrating different clinical manifestations and treatment strategies.
Abstract
Isolated hypogonadotropic hypogonadism is a heterogeneous group of rare hereditary disorders characterized by impaired gonadotropin secretion, leading to delayed or absent puberty, reduced fertility, and infertility. In recent years, significant progress has been achieved in understanding the molecular genetic mechanisms underlying hypogonadotropic hypogonadism: more than 40 candidate genes have been identified, among which the WD‑repeat containing protein 11 ( WDR11 ) gene plays a key role. Advances in genetic diagnostics and the improvement of assisted reproductive technology (ART) programs expand the possibilities for personalized therapy in patients with hypogonadotropic hypogonadism. This paper presents two clinical cases of patients from the same family with hypogonadotropic hypogonadism caused by a mutation in the WDR11 gene, demonstrating different clinical manifestations and treatment strategies.
To reassess patients with diagnosis of CHH without initial genetic testing or with negative results from previous genetic testing panels, a next-generation gene panel associated with CHH was performed using a next-generation gene panel associated with CHH.
Andreu Campos Peris, Guillermo Serra Soler, Ramón Zafra Jiménez et al.· European Journal of Endocrin...· 0 citations
Observations support an oligogenic and modulatory model of HH, in which heterozygous variants in WDR11, AIRE, and FGFR1 may interact with clinical and developmental factors to determine disease severity and reversibility, and has important implications for prognosis, genetic counseling, and individualized therapeutic s...
Maria Mateniadou, P. Makras, M. Koloutsou et al.· European Journal of Endocrin...· 0 citations
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M. Vlad, C. Dorogi, Bianca Maler· European Journal of Endocrin...· 0 citations
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L. Gregory, Shoshana Rath, Hanna Mandel et al.· European Journal of Endocrin...· 0 citations
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Unknown authors· 0 citations
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