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.
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References
Sutphin A., Albright F., Mc Cune D.J. Five cases (three in siblings) of idiopathic hypoparathyroidism associated with moniliasis. J. Clin. Endocrinol. Metab. 3: 625, 1943.
Hung W., Migeon C.J., Parrott R.H. A possible autoimmune basis for Addison’s disease in three siblings one with idiopathic hypoparathyroidism, pernicious anemia and superficial moniliasis. N. Engl. J. Med. 269: 685, 1963.
Kenny F.M., Holliday M.A. Hypoparathyroidism, moniliasis, Addison’s and Hashimoto’s disease. N. Engl. J. Med. 271: 709, 1964.
Bottone E., Saggese G., Biagioni M. The candidiasis-hypoparathyroidism-adrenal insufficiency syndrome. Riv. Ital. Ped. 7: 609, 1981.
Silver H.K., Gotlin R.V., Klingensmith G.J. Endocrine disorders. In: Kempe C.H., Silver H.K., O’Brien D. (Eds.), Current Pediatric Diagnosis and Treatment, ed. 8. Lange, Los Altos, California, 1984, p. 761.
Spinner M.W., Blizzard R.M., Childs B. Clinical and genetic heterogeneity in idiopathic Addison’s disease and hypoparathyroidism. J. Clin. Endocrinol. Metab. 28: 795, 1968.
Buist N., Cox K. Dominantly inherited parathormone sensitive hypoparathyroidism. Am. J. Hum. Gen. 26: 18A, 1974.
Proto G., Bertolissi F., De Marchi S., Villaita D., Santini G. Familial idiopathic hypoparathyroidism: analysis of hereditary transmission modalities and HLA genotype in two family trees covering three generations. J. Endocrinol. Invest. 6 (Suppl. 1): 162, 1983.
Hunter G.W., Heick H., Poznanski W.J., McLaine N. Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus. J. Med. Genet. 18: 431, 1981.
Winter W.E., Silverstein J.H., Maclaren N.K., Riley W.J., Chiaro J.J. Autosomal dominant hypoparathyroidism with variable, age-dependent severity. J. Pediatr. 103: 387, 1983.
Dabbagh S., Nolten W., Chesney R., Lutz J., Lemann J., Slatopolsky E., DeLuca H. Hypocalcemia is moderate in a kindred with autosomal dominant hypoparathyroidism, since serum 1,25 (OH)2-vitamin D levels are normal. Calcif. Tissue Int. 1984, abstract 501.
Ahn T.G., Antonarakis S.E., Kronenberg H.M., Igarashi T., Levine M.A. Familial isolated hypoparathyroidism: a molecular genetic analysis of 8 families with 23 affected persons. Medicine 65: 73, 1986.
Peden V.H. True idiopathic hypoparathyroidism as a sex-linked recessive trait. Am. J. Hum. Genet. 12: 323, 1960.
Whyte M.P., Weldon V.V. Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindred. J. Pediatr. 99: 608, 1981.
Blizzard R.M., Chee D., Davis W. The incidence of adrenal and other antibodies in the sera of patients with idiopathic adrenal insufficiency. Clin. Exp. Immunol. 2: 19, 1967.
Harrison H.E., Harrison H.C. Disorders of calcium and phosphate metabolism in childhood and adolescence. Saunders W.B., Philadelphia, 1976, p. 92.
Nusynowitz M.L., Frame B., Kolb F. The spectrum of the hypoparathyroid states: a classification based on physiologic principles. Medicine 55: 105, 1976.
Arnaud C.D., Kolb F.O. The calciotropic hormones and metabolic bone disease. In: Greespan F.S., Forsham P.H. (Eds.), Basic and Clinical Endocrinology. Lange, Los Altos, California, 1983, p. 187.
Taboga C., Grimaldi F., Bertolissi F. Calcificazioni endocraniche e stati di ipoparatiroidismo: ruolo della TAC nella diagnostica precoce. J. Endocrinol. Invest. 4 (Suppl. 2): 76, 1981.
Connor T.B., Rosen B.L., Blaustein M.P., Applefeld M.M., Doyle L.A. Hypocalcemia precipitating congestive heart failure. N. Engl. J. Med. 307: 869, 1982.
Daneman D., Kooh S.W., Fraser D. Hypoparathyroidism and pseudohypoparathyroidism in childhood. Clin. Endocrinol. Metab. 1: 211, 1982.
Pisanty S., Garfunkel A. Familial hypoparathyroidism with candidiasis and mental retardation. Oral Surg. 44: 374, 1977.
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De Campo, C., Piscopello, L., Noacco, C. et al. Primary familial hypoparathyroidism with an autosomal dominant mode of inheritance. J Endocrinol Invest 11, 91–96 (1988). https://doi.org/10.1007/BF03350111
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DOI: https://doi.org/10.1007/BF03350111