Endocrine Abstracts

A 19-year-old gentleman, with Coffin-Siris-Syndrome(CSS)(ARID1B:c.6157dup gene-mutation), was referred to our endocrinology clinic, with rapid weight-gain and recent onset of Type-2-Diabetes. He was of short stature, he had central-adiposity, facial plethora, proximal myopathy and gynaecomastia. Endocrine testing revealed ACTH:61ng/l, Cortisol:772nmol/l, Total-Testosterone:2.8nmol/l, FSH:6.3U/l, LH:2.2U/l, Prolactin:87mU/l, IGF-1:61ug/l, TSH:0.18mU/l, T4:10.3 pmol/l, HbA1C:84m...