Endocrine Abstracts

We present the case of a 49 year old man who initially presented to his GP with complaints of tiredness, weight gain and tingling in his right hand. GP requested thyroid hormone measurements which showed FT4 level of 3.4 picomoles per litre and TSH 10.89 milli international units per litre. The inappropriately low TSH level raised the possibility of central hypothyroidism and triggered further investigations which revealed a low level for GH, LH, FSH, testosterone and cortisol...

Previously we reported two loss-of-function dominant negative mutations (P467L, V290M) in human peroxisome proliferator-activated receptor gamma (PPARg) in three individuals with severe insulin resistance, early onset type 2 diabetes mellitus (T2DM) and hypertension. Subsequent detailed clinical and radiological evaluation of these subjects has revealed that each exhibits a stereotyped pattern of partial lipodystrophy affecting the limbs and buttocks. Recently a female with pa...