Published in
De Gruyter, Journal of Pediatric Endocrinology and Metabolism, 5-6(28), 2015
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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 
,
Berenice Biharinho de Mendonça ,
Maria I. New
,
Berenice Biharinho de Mendonça ,
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