hrp0098p2-390 | Late Breaking | ESPE2024

Histological Progression and Malignancy Risk in 17β-Hydroxysteroid Dehydrogenase Type 3 Deficiency: Insights from Infancy to Adulthood

Wang Yunpeng , Zhu Jing , Zhu Min

Background: 46, XY disorders of sex development (DSD) due to 17-beta-hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency significantly affect male sex development. Understanding the histological changes from infancy to adulthood in these patients remains limited. This study presents six patients with 17β-HSD3 deficiency from a single center, including China’s first prenatally diagnosed and postnatally confirmed case, and conducts a system...