Genetics of Adrenal Steroid 21-Hydroxylase Deficiency*

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Abstract
Introduction SINCE the first known case of 21-hydroxylase deficiency (21-OHD) was reported by the Neapolitan anatomist DeCrecchio in 1865 (1), numerous investigators have unravelled the mechanisms of adrenal steroid synthesis and the associated enzyme defects responsible for congenital adrenal hyperplasia (CAH). Among the enzyme deficiency states associated with inappropriate virilism, 21-OHD is the most common. The therapeutic use of synthetic adrenocortical hormone preparations within the last 30 yr has made it possible to study the natural history of a disease which was often fatal in infancy. The last two decades have seen the application of RIA techniques to the measurement of hormonal levels in these patients, allowing differentiation between enzyme defects based on precursor-product ratios. The documentation of linkage of the 21-hydroxylase gene to the human leukocyte antigen (HLA) complex led to the elucidation of several genetic facets of the disease, including the distinct HLA markers associated with the nonclassical, or late onset, 21-OHD allele. Finally, the cloning of the genes that encode the 21-hydroxylase enzyme has provided a means of examining the specific genetic defect responsible for the various forms of CAH due to 21-OHD.

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