ABSTRACT
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
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Adrenocorticotropic Hormone/pharmacology , Steroid 21-Hydroxylase/deficiency , Histocompatibility Testing , Hydrocortisone/metabolism , Hydroxyprogesterones/metabolism , Time FactorsABSTRACT
Os progestágenos, derivados de 17-hidroxiprogesterona ou da 19-nortestosterona, correspondem a um grupo de moléculas cuja manipulaçäo farmacológica tornou seu metabolismo mais lento e permitiu sua utilizaçäo por via oral. Estas modificaçöes promoveram também variaçöes em sua atividade. Desta forma, podem mimetizar algumas das açöes do hormônio natural, via receptor de progesterona, mas podem também exercer outros efeitos, de acordo com a molécula da qual derivam e de sua capacidade de se ligar a outros receptores de esteróides. Neste artigo, säo revisadas as propriedades dos progestágenos disponíveis comercialmente (luteomimética, antigonadotrófica, antiestrogênica ou antiandrogênica) e suas indicaçöes terapêuticas específicas