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Adrenal response to adrenocorticotropin hormone and HLA typing of subjects with different degrees of 21-hydroxylase deficiency
Braz. j. med. biol. res ; 26(2): 177-89, Feb. 1993. ilus, tab
Artigo em Inglês | LILACS | ID: lil-148684
RESUMO
1. To evaluate different degrees of 21-hydroxylase (21-OH) deficiency we studied the 17-hydroxyprogesterone (17-OHP) and cortisol response to the adrenocorticotropin hormone (ACTH) stimulation test. In a study of 13 families we characterized the relatives of patients with classical 21-OH deficiency using HLA antigen typing and the ACTH test. The subjects were divided into five groups 12 patients with the classical form, 11 patients with the nonclassical form, 38 heterozygotes, 6 normal homozygotes and 33 controls. 2. The 17-hydroxyprogesterone response to ACTH (mean +/- SD) varied as follows according to the degree of 21-OH deficiency 25442 +/- 15718 ng/dl for the classical group, 4198 +/- 1637 ng/dl for the nonclassical group, 348 +/- 267 ng/dl for the heterozygotes, 127 +/- 81 ng/dl for normal homozygotes, and 164 +/- 120 ng/dl for the controls. Basal plasma cortisol did not differ among the five groups. The cortisol response to ACTH was not different among controls (30 +/- 8 micrograms/dl), normal homozygotes (28 +/- 7 micrograms/dl) and heterozygotes (26.5 +/- 7 micrograms/dl). The cortisol response was decreased in the patient groups and was lower in the classical (14 +/- 10 micrograms/dl) than in the nonclassical group (20 +/- 4 micrograms/dl). 3. In most families (11/13), HLA typing was informative in identifying the 21-OH deficiency containing haplotype, which correlated with the hormonal profile. In two families there was no correlation between the HLA genotype and the clinical expression of 21-OH activity for two HLA identical pairs of siblings
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Índice: LILACS (Américas) Assunto principal: Esteroide 21-Hidroxilase / Hormônio Adrenocorticotrópico Tipo de estudo: Estudo prognóstico Limite: Adolescente / Adulto / Criança / Criança, pré-escolar / Feminino / Humanos / Lactente / Masculino Idioma: Inglês Revista: Braz. j. med. biol. res Assunto da revista: Biologia / Medicina Ano de publicação: 1993 Tipo de documento: Artigo

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Índice: LILACS (Américas) Assunto principal: Esteroide 21-Hidroxilase / Hormônio Adrenocorticotrópico Tipo de estudo: Estudo prognóstico Limite: Adolescente / Adulto / Criança / Criança, pré-escolar / Feminino / Humanos / Lactente / Masculino Idioma: Inglês Revista: Braz. j. med. biol. res Assunto da revista: Biologia / Medicina Ano de publicação: 1993 Tipo de documento: Artigo