Endocrine Abstracts

Introduction: 46 XY Disorders of Sex Development (46, XY DSD) is defined by the presence of female or incompletely virilized external genitalia in a 46, XY individual. 17β-hydroxysteroid dehydrogenase 3 (17βHSD3) deficiency is one of the causes for testosterone biosynthetic defects. It leads to defective conversion of androstenedione to testosterone. 17βHSD3 deficiency can present with female phenotype with inguinal hernias at birth, clitoromegaly during infancy...