Nonclassic adrenal hyperplasia due to 21-hydroxylase deficiency.
Nonclassic adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disorder distinguished from classic 21-OHD by clinical and hormonal criteria. It is most often described as a disorder of adrenal steroidogenesis with onset of virilization in late childhood, peripubertally or postpubertally. An overview of adrenal steroidogenesis is presented elsewhere in this publication. It is the aim of this article to focus on the clinical and hormonal manifestations of the disorder, with discussion of the current methods of diagnosis and management. Recent advances in classic and molecular genetics will follow.
Drucker
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D000312:Adrenal Hyperplasia, Congenital / Q000209:etiology / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D005938:Glucocorticoids / Q000627:therapeutic use; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D010375:Pedigree; D013250:Steroid Hydroxylases / Q000172:deficiency*
D005938:Glucocorticoids; D006680:HLA Antigens; D013250:Steroid Hydroxylases