Searchable abstracts of presentations at key conferences in endocrinology

ea0019p37 | Clinical practice/governance and case reports | SFEBES2009

Autosomal dominant familial cranial diabetes insipidus

Graham UM , Boyle R , Atkinson AB , Morrison PJ , Hunter SJ

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...

ea0019p5 | Bone | SFEBES2009

Identification of a kindred from Northern Ireland with familial hypocalciuric hypercalcaemia type 3, which maps to chromosome 19q13.3

Nesbit MA , Hannan FH , Graham U , Hunter S , Morrison PJ , Thakker RV

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...