[Clinical variants of virile form of congenital adrenocortical dysfunction].
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Biomedical subjects
Publications and source records attributed to I G Dzenis.
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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.
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Three young girls of short stature and with somatic anomalies typical for the Shereshevsky-Turner syndrome are described. Signs of sexual maturation and menarche appeared on time. Later on, menstrual periods came to resemble juvenile bleedings. Karyotypes determined in lymphocyte culture were 45,X/46,XX/47,XXX; 45,X/46,XXp-; and 46,XXp-, respectively. A possibility of spontaneous sexual maturation in patients with the Shereshevsky-Turner syndrome is discussed.
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The paper is devoted to the clinical picture and the diagnosis of the syndrome of testicular feminization in children. Problems of the pathogenesis, treatment of this pathology and the choice of sex for their upbringing are given.
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. Prolonged ACTH stimulation revealed not only quantitative but also qualitative traits of adrenocortical function in carriers of 21-hydroxylase insufficiency. An algorithm for diagnosing this insufficiency was worked out.
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The paper is concerned with some data on the content of 17-oxyprogesterone in the amniotic liquid of a normal fetus and a fetus with CNS defects during pregnancy. The appropriateness of 17-OP investigation for a diagnostic purpose after the 20th week of pregnancy is discussed.