Endocrine Abstracts

Background: Osteogenesis imperfecta is a systemic connective tissue disorder characterized by low bone mass and bone fragility leading to low-trauma fractures or fractures in atypical locations. Extraskeletal manifestations may include dental anomalies, blue-gray sclera, hearing loss, joint hypermobility, muscle weakness, cardiovascular and pulmonary complications.Case presentation: A 7year old boy presented with a history of fracture right femur 1 month...

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...