Endocrine Abstracts

A 60 year old nurse presented to the emergency department with palpitations, itchy skin, shortness of breath, diarrhoea, insomnia, weight loss and feeling hot /clammy. She felt her symptoms were in keeping with the menopause although she had been amenorrhoeic for six years. Thyroid function tests revealed fT4 73 pmol/land TSH <0.01 mIU/lhaving been normal six months previously. She was started on carbimazole 40 mg/day and was seen urgently in clinic. She reported to feelin...

Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder characterized by lifelong elevation of serum calcium concentrations with inappropriately low urinary calcium excretion. Three types referred to as FHH1, FHH2 and FHH3 and located on chromosomes 3q21.1, 19p and 19q13.3, respectively, have been reported. FHH1, caused by loss-of-function mutations of the calcium-sensing receptor (CaSR), accounts for >65% of FHH patients. To identify the gen...