Endocrine Abstracts

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 ...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is due to mutation in ABCD1 with variable clinical phenotype and severity. Elevated plasma VLCFA is seen in all affected males. However, the clinical phenotype is not collated with VLCFA plasma concentration or by the type of ABCD1 variant. Clinical presentation can be widely variable ranging from childhood cerebral adrenoleukodystrophy (CALD), adolescent CALD, adrenomyloneuropathy and/or adrenal insufficiency. We present a s...

Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal recessive condition due to mutation in the autoimmune regulator (AIRE) gene which leads to a variable phenotype with endocrine and nonendocrine multisystem involvement. We present a challenging case of APECED with auto immune hepatitis, mineralocorticoid deficiency and short stature.Case history: A 8-year-old girl born to consanguineous parents, presente...

Introduction: Primary Osteoma Cutis is associated with Albrights Hereditary osteodystrophy (AHO) due to inactivating GNAS mutation. It is inherited in an autosomal dominant or sporadic manner. Phenotype in GNAS mutation is varied due to parent specific gene expression. Maternally inherited GNAS mutation leads to hormone resistance, but paternally inherited mutation leads to AHO features without hormone resistance. Medulloblastoma is the most common m...

Introduction: Visceral body fat has been shown to correlate with complications related to obesity. Body mass index (BMI) is widely used to define obesity in the adolescent population; however, it does not take the overall body composition into account. We present body composition data in a group of UK adolescents attending the tertiary MDT weight management service.Methods: Data was collected on 31 patients (M:F = 15:16) attending the MDT service over a ...

Background: Adrenocortical carcinoma in childhood is a rare tumour which accounts for about 0.2% of all paediatric malignancies. Affected children usually present with virilization, cushingoid features, and/or mineralocorticoid excess. We present a boy with adrenal carcinoma presented with virilization and unusually suppressed cortisol at initial presentation.Case report: A two-year-old boy presented with pubic hair, acne, and increased penile growth wit...

Introduction: Resistant starch (RS) has beneficial effects on postprandial glucose metabolism in both animals and adults. Hitherto, it has not been studied in children. The long-term effects of RS in reducing obesity and improving metabolic profiles need to be investigated in children. Objectives: Our objective was to compare serial plasma glucose, insulin, gut hormone profiles and satiety scores in obese children after meals, containing increasing amoun...