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SLAVIC NONCLASSICAL 21-OH DEFICIENCY: A DIFFERENT MUTATION

Nonclassical adrenal hyperplasia due to 21-hydroxylase deficiency (NC21OHD) has been described to occur in high frequency among certain ethnic groups, among them Ashkenazi Jews (1/27), Hispanics (1/53), Yugoslavs (1/63), and Italians (1/333). The haplotype segment HLA-B14; DR1 is in strong linkage disequilibrium with the gene for NC21OHD. Differential ethnic group associations have been described, while B14;DR1 is frequent in nonclassical subjects of Ashkenazi Jewish, Hispanic, and Italian origin, this haplotype is much less frequently observed in Yugoslav and northern European Caucasians. It is postulated that the B14;DRl-associated mutation differs from the non-B14 associated mutation and would produce a difference in clinical and/or hormonal phenotypes. we have observed 10 Yugoslav patients with NC21OHD from 9 unrelated families. Three presented with precocious adrenarche. The remainder, identified through family studies of patients previously diagnosed with CAH or NC21OHD, were noted to be asymptomatic. The clinical presentation among the Yugoslavs was different from that in 84 observed patients who were Ashkenazi Jews, Hispanics or Italians. In the latter group the prominent symptoms were hirsutism in 21, amenorrhea or irregular menses in 9, infertility in 4, acne in 8, clitoromegaly in 3, hair loss in 1, accelerated growth in 1, precocious adrenarche in 20, and 31 were asymptomatic. In these patients with NC21OHD, the B14;DR1 segment occurred in 91% of the non-slavic haplotypes. Only 3 of the Yugoslav patients were found to carry the B14;DR1 haplotype and in each case B14;DR1 was associated with Italian, Hungarian, or German ancestry. In summary, we propose that the Yugoslav mutation in NC21OHD is different from other European ethnic groups.