[Detection of the heterozygote carrier state for the gene of congenital virilizing adrenal cortical hyperplasia by the blood testosterone level].

Abstract

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.

• Authors: E A Benikova, V N Demchenko, E M Sil'vanskaia
• Journal: Problemy endokrinologii (Probl Endokrinol (Mosk)) 1983 May-Jun Vol. 29 Issue 3 Pg. 24-7 ISSN: 0375-9660 [Print] Russia (Federation)
• Vernacular Title: Vyiavlenie geterozigotnogo nositel'stva gena vrozhdennoĭ viriliziruiushcheĭ giperplazii kory nadpochechnikov po urovniu testosterona krovi.
• PMID: 6575381 (Publication Type: Comparative Study, Journal Article)

Chemical References

• Genetic Markers
• Testosterone

Topics

• Adolescent
• Adrenal Hyperplasia, Congenital (blood, genetics)
• Adult
• Child
• Female
• Genes
• Genetic Carrier Screening (methods)
• Genetic Markers
• Humans
• Male
• Pedigree
• Risk
• Testosterone (blood)
• Virilism (blood, genetics)