Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene

17-β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) is an important enzyme involved in the final steps of androgen synthesis and is required for the development of normal male external genitalia. 46,XY individuals with deficiency of this enzyme present a wide clinical spectrum from a female appearan...

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Vydáno v:J Clin Res Pediatr Endocrinol
Hlavní autoři: Alikaşifoğlu, Ayfer, Vurallı, Doğuş, Hiort, Olaf, Gönç, Nazlı, Özön, Alev, Kandemir, Nurgün
Médium: Artigo
Jazyk:Inglês
Vydáno: Galenos Publishing 2015
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4677563/
https://ncbi.nlm.nih.gov/pubmed/26831562
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.2069
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