Endocrine Abstracts

Deficiency of 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3), an enzyme converting androstenedione (A) to testosterone (T) in the Leydig cells of the testis, is a rare cause of autosomal recessive 46,XY disorders of sexual development (DSD). A 18-year-old phenotypically female patient presented with primary amenorrhea. She had deep voice, macrocephaly, broad forehead, enlarged nasal tip, macrostomia, facial acne, gynecomastia, left-convex dorsal scoliosis, hypopla...