Endocrine Abstracts

Introduction: Pathogenic MC4R variants result in hyperphagia and early onset obesity but puberty is not usually affected. We describe an MC4R variant in a patient with Kallmann syndrome and obesity.Case: A 16 year old male with repaired Tetralogy of Fallot, anosmia, autism and anxiety, was referred with obesity and delayed puberty. Height was -1.31 SDS, BMI 30.7 kg/m2. He had a high arched palate, normal skin, normal hai...

Introduction: Disseminated fungal disease is an opportunistic infection mostly seen in immunocompromised patients, however, fungal thyroiditis in this context is rare, with few previously reported cases (predominantly Aspergillus, only one case of paediatric candida thyroiditis). We present a case of Candida tropicalis induced thyroiditis, to highlight this rare (likely underreported) cause of thyroid disease.Case: A 9-y...

A 4.9-year-old girl presented with symptoms suggestive of early puberty and rapid growth. Her medical history revealed that she had been a tall child since infancy. Family history was notable for Lynch syndrome in her father and paternal grandmother. Upon examination, the patient was pre-pubertal but had a height of 124 cm (SDS 3.5) and a height velocity of 15 cm/year. Further investigations revealed elevated levels of IGF-1, IGFBP3, and failed GH suppression on an OGTT, indic...