Savelyeva LV. Isolated hypogonadotropic hypogonadism caused by a mutation in the WDR11 gene: a clinical case report

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.