Endocrine Abstracts

Introduction: Cushing’s disease (CD) is a very rare cause of obesity in children. Typical features seen in adults with CD may be absent and clinical investigations may not give a definitive diagnosis. We present a case of CD, highlighting the challenges of diagnosis and the dilemmas encountered in managing such patients.Case report: A ten-year-old girl was referred with a five-year history of weight gain. At presentation BMI was +3.66 SD and she had...

Introduction: McCune-Albright syndrome (MAS) is a rare disorder characterized by skeletal lesions, skin hyperpigmentation, and hyperfunctioning endocrinopathies. It is due to the postzygotic gain-of-function mutations in GNAS1, which encodes the α-subunit of the Gs signaling protein. Case 1: A 13 year old boy presented initially with a femur fracture at the age of 5.5 years following minor injury. Café au lait patches were noted. Bone ...