Savelyeva LV. Isolated hypogonadotropic hypogonadism caused by a mutation in the WDR11 gene: a clinical case report
https://doi.org/10.14341/brh12793
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.
About the Authors
D. V. Ivanova
Endocrinology Research Centre
Russian Federation
Russian Federation
Daria V. Ivanova
11 Dm.Ulyanova street, 117036 Moscow
A. N. Zvyagintseva
Endocrinology Research Centre
Russian Federation
Russian Federation
Anastasia N. Zvyagintseva
E. V. Morozova
Endocrinology Research Centre
Russian Federation
Russian Federation
Elena V. Morozova, MD
S. I. Motkova
Endocrinology Research Centre
Russian Federation
Russian Federation
Svetlana I. Motkova, MD, PhD
L. V. Savelyeva
Endocrinology Research Centre
Russian Federation
Russian Federation
Larisa V. Savelyeva, MD, PhD
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Review
For citations:
Ivanova D.V., Zvyagintseva A.N., Morozova E.V., Motkova S.I., Savelyeva L.V. Savelyeva LV. Isolated hypogonadotropic hypogonadism caused by a mutation in the WDR11 gene: a clinical case report. Bulletin of Reproductive Health. 2026;5(2):48-52. (In Russ.) https://doi.org/10.14341/brh12793
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