Unusual heterozygotes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency confirmed by HLA tissue typing.

In a previous publication, three relatives of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency from two families were considered to be unusual heterozygotes rather than homozygotes with mild clinical manifestations. Their heterozygosity could now be confirmed by HLA tissue typing.