Hormonal studies in obligate heterozygotes and siblings of patients with 11 beta-hydroxylase deficiency congenital adrenal hyperplasia.
Hormonal response to ACTH stimulation and HLA genotyping were determined in families of patients with 11 beta-hydroxylase deficiency congenital adrenal hyperplasia. Neither hormonal measurements nor HLA genotyping were useful for the detection of heterozygosity in the families.
D000305:Adrenal Cortex Hormones / Q000097:blood*; D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology; D000324:Adrenocorticotropic Hormone; D000328:Adult; D003350:Cortodoxone / Q000097:blood; D003900:Desoxycorticosterone / Q000097:blood; D005260:Female; D006580:Genetic Carrier Screening; D006680:HLA Antigens / Q000032:analysis; D006579:Heterozygote; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D006908:Hydroxyprogesterones / Q000097:blood; D008297:Male; D013250:Steroid Hydroxylases / Q000172:deficiency*
D000305:Adrenal Cortex Hormones; D006680:HLA Antigens; D006908:Hydroxyprogesterones; D003900:Desoxycorticosterone; D000324:Adrenocorticotropic Hormone; D013250:Steroid Hydroxylases; D003350:Cortodoxone; D006854:Hydrocortisone