Searchable abstracts of presentations at key conferences in endocrinology

ea0029p351 | Clinical case reports - Pituitary/Adrenal | ICEECE2012

Familial central diabetes insipidus due to a novel mutation in exon 3 of the arginine vasopressin gene

Ritter M. , Gross U. , Feldkamp J. , Hoppner W. , Schulte H.

Neurohypophyseal diabetes insipidus (DI) is said to be caused by familial forms in about 5% of cases1. Hereditary transmission is autosomal dominant in most families and is caused by a mutation in the arginine vasopressin (AVP) gene on chromosome 20p13, which encodes for a large precursor hormone.A 19-years old otherwise healthy patient seeked endocrine care for an inadequately treated DI. He reported about an undoubtful disease history with a...