Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus.

Abstract

An extended family is reported with well documented autosomal dominant hypoparathyroidism which was ascertained through a proband with coincident nephrogenic diabetes insipidus. Clinical findings were limited to a slight decrease in overall stature and to clinical signs of hypocalcemia. Intelligence was normal and 2 patients were asymptomatic. Published reports have established that autosomal dominant, autosomal recessive and sex linked recessive familial isolated hypoparathyroidism exist. In almost half the reported families an X linked dominant etiology cannot be excluded and, at present, clinical criteria provide only minimal aid in distinguishing between the different genetic types. There remains a need for detailed documentation of further families where the pattern of inheritance is clear.