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Studies of the C-21 and C-19 steroids and HLA genotyping in siblings and parents of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

In 24 families of patients with congenital adrenal hyperplasia (21-hydroxylase deficiency), HLA genotyping and a 360-min ACTH stimulation test were performed in 34 siblings, 37 parents, and 11 other family members. 17-desoxy-, 17-hydroxy-, and C-19 steroids were determined before and after stimulation with ACTH in order to test the adrenocortical function in family members with 21-hydroxylase deficiency. The response of the family members predicted to be heterozygous and those predicted to be genetically unaffected by HLA genotyping were compared to the general population. The study demonstrates that only the ACTH-stimulated 17- hydroxyprogesterone level may be useful in detecting heterozygosity. All other stimulated hormones (Δ5-17-hydroxypregnenolone, 11-desoxycortisol and cortisol in the glucocorticoid pathway and progesterone, desoxycorticosterone, corticosteront’, and aldosterone in the mineralocorticoid pathway, and Δ4-androstenedione, dehydroepiandrosterone, and testosterone in the androgen pathway...