Abstract
HLA haplotypes and biochemical phenotypes were determined in the families of 14 patients with CAH (total 49 subjects) to ascertain the genotype (normal, N; heterozygote, HZ; homozygote, HH). HLA-A, B, C and DR frequencies in these and 4 more propositi showed the expected increased frequence of Bw47 (control 0.5%, n=600; CAH 22.2%; p <0.01) and an unexpected increase in Bw22 (controls 6.3% CAH 27.8%; p <0.05). A decreased frequency of B8 and DR3 in CAH was not significant. Plasma/saliva levels of 17OH-progesterone (17P), androstenedione (A) and Cortisol (F) determined before and 60 min. after I.M. Synacthen were used for biochemical phenotyping. In discriminating HH subjects, only 17P values were useful. Saliva 17P, a putative index of free steroid, was no more discriminatory than plasma 17P values (HH: pre 2100 - 170 pmol/1, post 6600 ± 7400; HX: pre <100, post 610 ± 870; N: pre <100, post 220 ± 40 (mean ± SD) ). Basal saliva 17P at 0900 hr was > 200 pmol/l in 80% of HH but none of HZ and N subjects. Saliva 17P and its response to ACTH is a useful test to screen for and confirm the diagnosis of homozygous CAH, but the test is only complimentary to HLA typing for heterozygote detection.
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Young, M., Thomas, M., Darke, C. et al. 153 PLASMA AND SALIVA STEROID RESPONSE TO ACTH AND HLA HAPOLOTYPES IN CONGENITAL ADRENAL HYPERPLASIA (CAH). Pediatr Res 24, 542 (1988). https://doi.org/10.1203/00006450-198810000-00174
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DOI: https://doi.org/10.1203/00006450-198810000-00174