17-Alpha Hydroxylase Deficiency: A Rare Case of Primary Amenorrhea and Hypertension

17-Alpha Hydroxylase Deficiency: A Rare Case of Primary Amenorrhea and Hypertension

17-alpha hydroxylase deficiency (17OHD) is an uncommon cause of congenital adrenal hyperplasia (CAH) resulting from mutation in the CYP17 gene. It is an autosomal recessive disease leading to the deficiency of enzyme activity which results in impaired synthesis of cortisol, androgen and sex steroids...

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Bibliographic Details
Main Authors: Yasin Şimşek, Seher Polat, Felix G. Riepe, Halit Diri, Fatih Tanrıverdi, Züleyha Karaca, Kürşad Ünlühızarcı, Paul-Martin Holterhus, Fahrettin Keleştimur
Format: Article
Language:English
Published: Turkiye Klinikleri 2014-12-01
Series:Turkish Journal of Endocrinology and Metabolism
Subjects:
17-alpha hydroxylase deficiency
primary amenorrhea
in vitro fertilization
congenital adrenal hyperplasia
Online Access:http://dx.doi.org/10.4274/tjem.2415

Internet

http://dx.doi.org/10.4274/tjem.2415

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