The non-classical form of congenital adrenal cortical hyperplasia due to 11Β-hydroxylase deficiency: the description of three clinical cases
https://doi.org/10.14341/probl201359336-44
Abstract
The non-classical form of congenital adrenal cortical hyperplasia due to 11Β-hydroxylase deficiency (11Β-OH CAH) is the second most frequent non-classical form of CAH. Mutations in the CYP11B1 gene characteristic of this pathology are responsible for the slight reduction in the 11Β-hydroxylase activity manifested as the "soft" phenotype. They make it difficult to distinguish 11Β-OH CAH from similar clinical conditions. There are occasional publications in the world literature describing patients with genetically confirmed 11Β-OH CAH. No such data can be found in the Russian-language literature. We have described three clinical cases of 11Β-OH CAH caused by mutations in the CYP11B1 gene. Our observations showed that the presence of the signs of hyperandrogenism (regardless of the patients' age and sex) in combination with arterial hypertension or without it as well as the marked increase in the baseline and/or stimulated levels of 11-deoxycortisol gives reason to suspect non-classical variant of 11Β-hydroxylase deficiency. The molecular-genetic study revealed mutations in the CYP11B1 gene in all the examined patients.
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Review
For citations:
Ionova T.A., Zubkova N.A., Tiul'pakov A.N., Nizhnik A.N., Savel'eva L.V. The non-classical form of congenital adrenal cortical hyperplasia due to 11Β-hydroxylase deficiency: the description of three clinical cases. Problems of Endocrinology. 2013;59(3):36-44. (In Russ.) https://doi.org/10.14341/probl201359336-44
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