Abstract
Congenital adrenal hypoplasia is a rare cause of adrenocortical insufficiency in infancy. Two different modes of inheritance, sex-linked and autosomal, have been suggested. Three male infants with severe clinical signs developed within the first week of life are described. Biochemical data indicated both glucocorticoid and mineralocorticoid insufficiency. Clinical remission followed substitution therapy. The infants descend from the same Greenlandic family. Informations concerning 82 family members in five generations were obtained. Fourteen male infants had a clinical picture suggesting adrenocortical insufficiency, and died in early infancy. No female was affected. The pedigree of the family demonstrated no father-to-son transmission. The pedigree indicated an x-linked transmission of the adrenal hypoplasia gene locus; the locus seems to originate from the great-great-grand mother.
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