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Classical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Genetic considerations in light of personal studies

Turowska-Heydel, D.

Przeglad Lekarski 52(1): 10-12

1995

ISSN/ISBN: 0033-2240
PMID: 7784603
Document Number: 446358
Long-term immunogenetic studies on HLA and GLOI systems in the families of probands with classic 21-hydroxylase related adrenal hyperplasia served as a basis for a complex analysis. The analyzed factors included the phenotype and haplotype incidence, HLA-ABC homozygosity, and -in informational families-the strength of genetic linkage for recombinant fractions (lod score). The results suggest the usefulness of routine determinations of class I HLA antigens in families of patients with 21-hydroxylase deficiency.

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