Vnitr Lek 1990, 36(7):643-648
[Diagnosis of the heterozygote carrier state in 21-hydroxylase deficiency using steroids].
- Výzkumný ústav endokrinologický, Praha.
In an attempt to elaborate a method for screening heterozygous carriers of inborn adrenal hyperplasia caused by insufficiency of steroid 21-hydroxylase, the authors examined in 24 obligatory heterozygotes and in seven controls the concentrations of four steroids. Cortisol (F), 11 beta-hydroxyandrostendione (11-OH), 17 alpha-hydroxyprogesterone (17-OH) and androstendione (A) were estimated by the RIA method using non-commercial antisera. In the examined subjects an abbreviated ACTH test was made and the mentioned parameters were assessed at times 0, 30 and 60 minutes. The results (nmol/l) were expressed by the relationship R = F.11-OH/17-OH.A for all investigated time intervals. The coefficient R60 or difference of coefficients delta R = R60-R0 differed significantly and overlapped to a minimum extent in the group of heterozygotes and controls. The authors assume that the suggested method for the detection of carriership of 21-hydroxylase insufficiency could be used in genetic counselling.
Keywords: 17-alpha-Hydroxyprogesterone; Adrenal Cortex Function Tests; Adrenal Hyperplasia, Congenital, diagnosis, ; Adrenocorticotropic Hormone; Androstenedione, analogs & derivatives, ; Female; Genetic Carrier Screening, methods, ; Humans; Hydrocortisone, blood, ; Hydroxyprogesterones, blood, ; Male
Published: July 1, 1990 Show citation