Endocrine Abstracts

A 53-year-old man was referred for assessment of diabetes insipidus. He had been treated with intranasal desmopressin from18 months of age on the basis of an extensive family history but without confirmatory testing. The current referral was because of hyponatraemia in a similarly affected relative, which had raised uncertainty about diagnosis and treatment.The family history included 11 affected individuals across four generations and suggested autosoma...

Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder of mineral metabolism that is characterized by lifelong elevation of serum calcium concentrations associated with inappropriately low urinary calcium excretion (calcium clearance:creatinine clearance <0.01). Three separate FHH loci have been identified (FHH1-3). Loss-of-function mutations of the calcium-sensing receptor (CaSR) gene located on 3q21.1, which account for the majority of FHH c...