Article
17α-hydroxylase deficiency diagnosed in early infancy caused by a novel mutation of the CYP17A1 gene.
Hormone research in paediatrics - 1 Jan 2014
Petri Christina, Wudy Stefan A, Riepe Felix G, Holterhus Paul-Martin, Siegel Jens, Hartmann Michaela F, Kulle Alexandra E, Welzel Maik, Grötzinger Joachim, Schild Ralf L, Heger Sabine
Abstract excerpt
BACKGROUND: Mutations of the CYP17A1 gene cause 17α-hydroxylase deficiency (17OHD) resulting in 46,XY disorder of sex development, hypertension, hypokalemia and absent pubertal development. It is a rare, autosomal recessive form of congenital adrenal hyperplasia (CAH). PATIENT: We report on a neonate with prenatally determined 46,XY karyotype. At 20 weeks of gestation, lack of development of male external...
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