Premium
HLA AND HORMONAL DATA FOR IDENTIFICATION OF HETEROZYGOTES IN 11β‐ AND 17α‐HYDROXYLASE DEFICIENCY SYNDROMES
Author(s) -
Mantero F.,
Scaroni C.,
Masarotto P.,
Pasini C. Venturi
Publication year - 1982
Publication title -
clinical and experimental pharmacology and physiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.752
H-Index - 103
eISSN - 1440-1681
pISSN - 0305-1870
DOI - 10.1111/j.1440-1681.1982.tb00805.x
Subject(s) - heterozygote advantage , human leukocyte antigen , identification (biology) , hormone , 21 hydroxylase , medicine , endocrinology , genetics , immunology , biology , allele , antigen , gene , congenital adrenal hyperplasia , botany
SUMMARY 1. In previous studies, baseline and ACTH‐stimulated hormone levels, plus HLA genotyping, have been used to detect heterozygous carriers in congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase deficiency (21‐OHDS). 2. In the present study similar parameters were determined in a family of four including two children with CAH due to 11β‐hydroxylase deficiency (11‐OHDS), and a family of twelve including three sibs (two females, one genotypically male) with CAH due to 17α‐hydroxylase deficiency (17‐OHDS). 3. HLA typing showed affected sibs with 11‐OHDS to differ in one of their haplotypes. No significant differences in basal and ACTH‐stimulated steroid levels were seen between the parents (obligate heterozygotes) and the general population. 4. In 17‐OHDS, affected members differed from one another in one to two haplotypes; one patient had identical HLA profiles with two of the normal siblings, as did the genotypically male patient with two others; each of the other healthy siblings had one haplotype found in two of the affected subjects. The genes responsible for 11‐OHDS and 17‐OHDS‐in contrast with 21‐OHDS‐do not appear to be HLA‐linked. However, the measurement of ACTH‐stimulated corticosterone levels may be useful, since the gene responsible for 17‐OHDS seems to be expressed hor‐monally in the heterozygous state.