Familial isolated hypoparathyroidism: a molecular genetic analysis of 8 families with 23 affected persons
TG Ahn, SE Antonarakis, HM Kronenberg, T Igarashi… - Medicine, 1986 - journals.lww.com
Idiopathic hypoparathyroidism is a heteroge-neous group of metabolic disorders
characterized by hypocalcemia and hyperphosphatemia due to deficient secretion of
parathyroid hormone (PTH). Although most cases are sporadic, familial occur-rence of
idiopathic hypoparathyroidism has been reported as well (3–8, 10, 21–23, 26, 28–30).
Within these families hypoparathyroidism may occur as part of a complex autoimmune
disorder associated with multiple endocrine deficiencies (ie, Type I polyglandular …
characterized by hypocalcemia and hyperphosphatemia due to deficient secretion of
parathyroid hormone (PTH). Although most cases are sporadic, familial occur-rence of
idiopathic hypoparathyroidism has been reported as well (3–8, 10, 21–23, 26, 28–30).
Within these families hypoparathyroidism may occur as part of a complex autoimmune
disorder associated with multiple endocrine deficiencies (ie, Type I polyglandular …