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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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| Опубликовано в: : | J Endocr Soc |
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| Главные авторы: | , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Oxford University Press
2020
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| Предметы: | |
| Online-ссылка: | 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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