Abstract
The study comprises 14 families with unaffected siblings and with one or two children (total 17) with congenital adrenal hyperplasia (CAH)-21 OH defect. HLA tissue typing and glyoxalase (GLO) confirmed the close genetic linkage between 21 OH def. and HLA-B locus. Positive association with B 47 was found: in 2 of 18 unrelated patients (normal population 0.4%, p < 0.01), negative association to B 8 (only one positive), and no selective increase in B 5 (2/18, normal pop. 10%, NS). HLA genotyping demonstrated 9 heterozygote carriers and 3 normal homozygotes among the siblings. Hormonal analyses showed that basal ACTH values were normal in all relatives and ACTH stimulated values for cortisol and 17 OH-progesterone in the relatives were overlapping with normal values. One family showed: F: A3 B7/A19 B14 - M: A29 B21/A1 B17 - 1) healthy sister: A19 B14/A1 B17, 2) classical CAH patient: A3 B7/A1 B17, 3) late onset patient: A19 B14/A1 B17. B14 was found in the late onset patient, the father and the healthy sister, and these two were from HLA types and hormonal analyses shown to be what is called “cryptic” patients or “unusual heterozygotes”.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Petersen, K., Svejgaard, A., Dissing, J. et al. HLA and hormonal studies in families of patients with 21-hydroxylase deficiency - cryptic patients?. Pediatr Res 15, 1559 (1981). https://doi.org/10.1203/00006450-198112000-00142
Issue Date:
DOI: https://doi.org/10.1203/00006450-198112000-00142