title: Primary familial hypoparathyroidism with an autosomal dominant mode of inheritance.
abstract: A family with primary isolated hypoparathyroidism transmitted by an autosomal dominant gene was documented; the proband was a 38-year-old woman with a history of weakness and carpopedal spasm. The family study revealed that 6 out of 13 members belonging to 3 generations were affected by hypoparathyroidism without any evidence of an autoimmune disease. Vertical male-to-male, female-to-female and female-to-male transmission were demonstrated. Having excluded the recessive form of familial hypoparathyroidism, pseudohypoparathyroidism, primary familial hypomagnesemia and any immunological disorder, the autosomal dominant inheritance seems to be the most important etiology of idiopathic hypoparathyroidism.
authors: Clinica Pediatrica, Ospedale Infantile B. Garofolo, Università di Trieste, Italy.
authors: C
authors: C
authors: De Campo
authors: L
authors: L
authors: Piscopello
authors: C
authors: C
authors: Noacco
authors: P
authors: P
authors: Da Col
authors: G C
authors: GC
authors: Englaro
authors: A
authors: A
authors: Benedetti
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000469:Alkaline Phosphatase / Q000097:blood; D001827:Body Height; D002648:Child; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D006996:Hypocalcemia / Q000209:etiology; D007011:Hypoparathyroidism / Q000235:genetics*; D008274:Magnesium / Q000097:blood; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010710:Phosphates / Q000097:blood
chemical_list: D010710:Phosphates; D000469:Alkaline Phosphatase; D008274:Magnesium