[The steroid content of the amniotic fluid in the 1st and 2nd pregnancy trimesters in 21-hydroxylase insufficiency and in fetal central nervous system defects].

A total of 103 samples of amniotic fluid obtained by transabdominal amniocentesis were examined, 52 of these from women at a high risk of giving birth to children with congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency and 30 ones with fetuses with different neural tube malformations. 17-Hydroxyprogesterone was found to be a reliable marker indicating the disease in fetuses from the group at risk of hereditary 21-OH deficiency. This marker can be effectively used as early as in the 1 gestation trimester.

[Diagnosis of heterozygote carrier of mutant gene of 21-hydroxylase].

Heterozygotic carriers of 21-hydroxylase deficiency were detected by prolonged ACTH stimulation test. Stepwise discriminant analysis was used for data processing, which helped derive a function: D = 0.052 x X1 + 0.

[Congenital dysfunction of adrenal cortex - detection of new mutant gene of 21-hydroxylase].

The paper presents the results of investigations of 30 Slavic families with different types of congenial adrenal hyperplasia (CAH). The classic types of CAH were established to be associated with HLA B14 in most cases. This fact proves the presence of new mutation of 21-hydroxylase (21-OH) gene.

[Features of adrenal cortex function in heterozygous carriers of 21-hydroxylase deficiency].

Adrenocortical function in carriers of 21-hydroxylase insufficiency and in persons without it was investigated by change in the levels of 17-hydroxyprogesterone and dehydroepiandrosterone before and against a background of prolonged ACTH stimulation. Differences in change of the basal concentrations of these hormones in both groups were absent. Change of adrenocortical function in the carriers was observed against a background of ACTH stimulation only by the blood level of 17-hydroxyprogesterone.

[The functional characteristics of the reproductive system in women who are heterozygous carriers of 21-hydroxylase deficiency].

This paper reports the results of evaluation of reproductive histories of 52 heterozygous female carriers of 21-hydroxylase deficiency who gave birth to children with classic congenital adrenocortical hyperplasia. Functional ACTH adrenal tests of these women were compared with those in a control group of noncarriers. Test findings are discussed with respect to the pathogenesis of reproductive tract disorders in the carriers of a mutant gene.