Clinicohormonal and molecular genetic diagnosis of a nonclassical form of 21-hydroxylase deficiency in women of reproductive age
https://doi.org/10.14341/probl200854116-20
Abstract
The nonclassical form of 21-hydroxylase deficiency should be diagnosed at the stage of pregnancy planning. The stimulation test using a long acting ACTH analogue is the most effective method. The stimulated 17-hydroxyprogesterone level above SO nmol/l and concomitant gene CYP2I mutations are a reflection of impaired adrenal steroidogenesis. The nonclassical form of 21-hydroxylase deficiency does not deteriorate the course of spontaneous pregnancy.
About the Authors
Ye. В. KhramovaTyumen State Medical Academy
Russian Federation
L. A. Suplotova
Tyumen State Medical Academy
Russian Federation
S. V. Fomlna
City Consultative and Diagnostic Centre of Tyumen City
Russian Federation
S. A. Prokofyev
Endocrinology Research Centre of Rosmedtechnology
Russian Federation
N. Yu. Yuzhakova
Multidisciplinary Clinic of the Tyumen State Medical Academy
Russian Federation
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Review
For citations:
Khramova Ye.В., Suplotova L.A., Fomlna S.V., Prokofyev S.A., Yuzhakova N.Yu. Clinicohormonal and molecular genetic diagnosis of a nonclassical form of 21-hydroxylase deficiency in women of reproductive age. Problems of Endocrinology. 2008;54(1):16-20. (In Russ.) https://doi.org/10.14341/probl200854116-20
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