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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

Journal article published in 2015 by Ahmed Khattab, Tony Yuen, Mabel Yau, Sorahia Domenice, Elaine Maria Frade Costa, Kazmi Diya, Dwaipayan Muhuri, Christian Enrique Pina, Mirian Yumie Nishi, Amy C. Yang ORCID, Berenice Biharinho de Mendonça ORCID, Maria I. New
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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