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pro vyhledávání: '"Paul-Martin Holterhus"'
Autor:
Seher Polat, Paul-Martin Holterhus, Fahrettin Kelestimur, Zuleyha Karaca, Fatih Tanriverdi, Yasin Simsek, Halit Diri, Kursad Unluhizarci, Felix G. Riepe
Publikováno v:
Turkish Journal of Endocrinology and Metabolism, Vol 18, Iss 4, Pp 137-139 (2014)
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 impaire