Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus.
In this paper we report an extended family 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 hypocalcaemia. Intelligence was normal and two patients were asymptomatic. Published reports have established that autosomal dominant, autosomal recessive, and sex linked recessive familial isolated hypoparathyroidism exist. However, in almost half the reported families an X linked dominant aetiology 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 were the pattern of inheritance is clear.
D000328:Adult; D002648:Child; D000242:Cyclic AMP / Q000378:metabolism; D003919:Diabetes Insipidus / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D014644:Genetic Variation; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics* / Q000378:metabolism; D008297:Male; D010281:Parathyroid Hormone / Q000378:metabolism; D010375:Pedigree; D010641:Phenotype
D010281:Parathyroid Hormone; D000242:Cyclic AMP