Ambiguous Genitalia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency: Clinical, Genetic, and Functional Characterization of Two Novel

• Tác giả: Therina du Toit, Christa E Flück, Dagmar l'Allemand, Jani Liimatta, Kay Sauter, André Schaller
• Ngôn ngữ: eng
• Ký hiệu phân loại: 629.2252 Motor land vehicles, cycles
• Thông tin xuất bản: England : JCEM case reports , 2025
• Bộ sưu tập: NCBI
• ID: 254179

Tóm tắt

3β-Hydroxysteroid dehydrogenase 2 deficiency (3βHSD2D) is a rare form of congenital adrenal hyperplasia (CAH) with variable clinical presentation. We describe a 46, XY child with ambiguous genitalia and CAH without apparent adrenal insufficiency due to 2 novel heterozygous variants in the