Endocrine Abstracts

Introduction: Mutations in IRS4 have recently been shown to cause X-linked congenital central hypothyroidism in males. We present two brothers with IRS4 mutation who presented to the endocrine service in adolescence.Case description: The younger brother presented with suspected vitiligo to paediatric dermatology at age 12. Thyroid function was performed to rule out autoimmune primary hypothyroidism, but detected low FT4 (6.7 pmol/l) and...

A 5-year-old girl transferred into our service with antibody negative diabetes (to islet antigen 2 and glutamic acid), diagnosed aged 15 months, following a 4-week history of polyuria and polydipsia, without diabetic ketoacidosis (C-peptide (CP) 576 pmol/l and presenting glucose 14 mmol/l). She was treated with multiple daily injections from diagnosis. There was a history of severe progressive sensorineural deafness since six months, and iron deficiency normocytic anaemia. Gen...