DIAGNOSIS OF 21-HYDROXYLASE DEFICIENCY IN CONGENITAL ADRENAL HYPERPLASIA IN UZBEKISTAN
Keywords:
Congenital adrenal hyperplasia, 21-hydroxylase deficiency, virilization, neonatal screening, UzbekistanAbstract
Congenital adrenal hyperplasia (CAH) is a group of autosomal-recessive diseases characterized by a defect in one of the enzymes or transport proteins involved in the synthesis of cortisol in the adrenal cortex. Of the seven described forms of CAH, 21-hydroxylase deficiency is the most prevalent. This study aims to evaluate and enhance diagnostic methods for CAH in female patients in Uzbekistan.
References
1. New MI. "Diagnosis and management of congenital adrenal hyperplasia." Endocrinology and Metabolism Clinics, 2001.
2. White PC, Speiser PW. "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency." Endocrine Reviews, 2000.
3. Merke DP, Bornstein SR. "Congenital adrenal hyperplasia." Lancet, 2005.
4. Miller WL. "Clinical review: Disorders in the initial steps of steroidogenesis: Clinical commentary and advances." Journal of Clinical Endocrinology & Metabolism, 2012.
5. Turan S, Omar A, Bereket A. "Endocrinological aspects of congenital adrenal hyperplasia." Pediatric Endocrinology Reviews, 2009.
Downloads
Published
Issue
Section
License
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
