[Detection of the heterozygote carrier state for the gene of congenital virilizing adrenal cortical hyperplasia by the blood testosterone level].
The study of genealogy of the families with cases of congenital adrenocortical virilizing hyperplasia allowed one to suggest a possibility of the heterozygous bearing of a pathological gene. The investigation of the plasma testosterone level in the parents of children with the adrenogenital syndrome has shown that an increase in the blood circulating testosterone level 1.6 to 4 times compared with normal may serve as a marker of heterozygosis for this disease.
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000235:genetics*; D000328:Adult; D002648:Child; D005260:Female; D005796:Genes; D006580:Genetic Carrier Screening / Q000379:methods*; D005819:Genetic Markers; D006801:Humans; D008297:Male; D010375:Pedigree; D012306:Risk; D013739:Testosterone / Q000097:blood*; D014770:Virilism / Q000097:blood / Q000235:genetics*
D005819:Genetic Markers; D013739:Testosterone
Vyiavlenie geterozigotnogo nositel'stva gena vrozhdennoĭ viriliziruiushcheĭ giperplazii kory nadpochechnikov po urovniu testosterona krovi.