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hrp0098p2-249 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Pubertal virilization in individuals with partial gonadal dysgenesis attributable to DHH mutation: a case report

Günay Aylin , Kurt İlknur , Ayaz Burcu , Karagözlü Akgül Ahsen , Ersoy Ayşenur , Bilge Geçkinli Bilgen , Yavaş Abalı Zehra , Nuri Özbek Mehmet , Güran Tülay

Introduction: Desert hedgehog (DHH) is mainly involved in testicular development and peripheral nerve sheath formation. DHH protein is produced by Sertoli cells and promotes Leydig cell development. It regulates androgen synthesis through Sertoli-Leydig cell interaction and is also involved in sex differentiation. Biallelic DHH (MIM*605423) variants are an extremely rare cause of 46,XY gonadal dysgenesis (GD). Patients may present with abnormal genita...
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