New mutation in the CYP17 gene: description of a case
https://doi.org/10.14341/probl200652641-45
Abstract
Deficiency of 17α-hydroxylase is a rare variant of congenital adrenal cortical dysfunction. The defect was first described by E. Biglieri et al. in 1966 in patients with sexual infantilism, pronounced excess mineralocorticoids with salt retention and arterial hypertension.
Currently, several variants of the nonclassical course of the disease are described (with an increased level of aldosterone and without the development of hypertension and hypokalemia), the pathophysiological mechanism of which could not be explained. Cases of isolated deficiency of 17,20-lyase activity associated with mutations of R347H and R358Q in the CYP17 gene are also described.
Here is the observation of a patient with a new mutation in the CYP17 gene with 17α-hydroxylase/17,20-lyase deficiency.
About the Authors
L. K. DzeranovaEndocrinology Research Centre
Russian Federation
A. N. Tyulpakov
Endocrinology Research Centre
Russian Federation
Ye. A. Pigarova
Endocrinology Research Centre
Russian Federation
P. M. Rubtsov
Engelhardt Institute of Molecular Biology of the Russian Academy of Sciences
Russian Federation
A. M. Artemova
Endocrinology Research Centre
Russian Federation
A. V. Vorontsov
Endocrinology Research Centre
Russian Federation
I. S. Yarovaya
Endocrinology Research Centre
Russian Federation
L. Ya. Rozhinskaya
Endocrinology Research Centre
Russian Federation
I. I. Dedov
Endocrinology Research Centre
Russian Federation
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Review
For citations:
Dzeranova L.K., Tyulpakov A.N., Pigarova Ye.A., Rubtsov P.M., Artemova A.M., Vorontsov A.V., Yarovaya I.S., Rozhinskaya L.Ya., Dedov I.I. New mutation in the CYP17 gene: description of a case. Problems of Endocrinology. 2006;52(6):41-45. (In Russ.) https://doi.org/10.14341/probl200652641-45
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