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De Gruyter, Journal of Pediatric Endocrinology and Metabolism, 5-6(28), 2015

DOI: 10.1515/jpem-2014-0295

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Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency

This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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Abstract

AbstractSteroid 17β-hydroxysteroid dehydrogenase III (17β-HSD3) deficiency is a rare autosomal recessive disorder that usually presents in patients with a 46,XY karyotype with ambiguous genitalia at birth. The 17β-HSD3 enzyme, which is encoded by the