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Updated: Oct 23, 2026

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
Published on: February 3, 2012
A case of 17 alpha-hydroxylase deficiency with chromosomal karyotype 46,XY and high plasma aldosterone concentration
H Shima1, H Kawanaka, Y Yabumoto
1Department of Urology, Hyogo College of Medicine, Nishinomiya, Japan.
Abstract:
A 15-year-old female case of 17 alpha-hydroxylase deficiency with 46,XY chromosomal karyotype is reported. High plasma aldosterone concentration (285 pg/ml) with low plasma renin activity (less than 0.1 ng/ml/h) and the absence of organs derived from Müllerian ducts with immature testes were recognized. Bilateral orchiectomy was done after hormonal control by the administration of dexamethasone. The basic characteristics, mechanism of high plasma aldosterone concentration, steroid modification of Müllerian inhibiting substance and rationality of castration in a case of 17 alpha-hydroxylase deficiency are discussed.
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