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SUN-159 17-beta Hydroxysteroid Dehydrogenase 3 Deficiency in 1 Month Old Infant

Background: 17-beta hydroxysteroid dehydrogenase 3 deficiency is a rare autosomal recessive disorder caused by mutations in HSD17B3 encoding the enzyme which converts androstenedione to testosterone. It is characterized in 46, XY males by incomplete virilization, including micropenis and hypospadias...

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Détails bibliographiques
Publié dans:J Endocr Soc
Auteurs principaux: Mathew, Deepa, Speiser, Phyllis Witzel, Panayiotopoulos, Aristotle, Pisani, Laura
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2020
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7207273/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.1375
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