ABSTRACT
Hypoparathyroidism in children and adolescents may be isolated or part of a complex developmental or autoimmune syndrome. Postsurgical hypoparathyroidism, constituting 75% of all cases in adults, is an unusual cause of hypoparathyroidism in pediatric patients. Advances in molecular genetic testing have led to the identification of a growing number of genes that are associated with defects in parathyroid gland development, impaired synthesis or secretion of parathyroid hormone, and decreased survival of parathyroid glands. Isolated hypoparathyroidism can be caused by genetic defects that impair embryologic development of only the parathyroid glands. Hypoparathyroidism can arise due to the development of anti-parathyroid antibodies, so-called “autoimmune hypoparathyroidism.” Autoimmune hypoparathyroidism may be isolated or occur in the context of a complex autoimmune syndrome, most commonly the autoimmune polyendocrinopathy candidiasis ectodermal dystrophy. The management of congenital hypoparathyroidism depends on the presentation of hypocalcemia, which can vary from an asymptomatic biochemical finding to a life-threatening condition.
