46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin

17-beta hydroxysteroid dehydrogenase type 3 (17βHSD-3) enzyme catalyzes the conversion of androstenedione (Δ4) to testosterone (T) in the testes of the developing fetus, thus playing a crucial role in the differentiation of the gonads and in establishing the male sex phenotype. Any mutation in the e...

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Detalhes bibliográficos
Publicado no:J Clin Res Pediatr Endocrinol
Main Authors: Tsinopoulou, Assimina Galli, Serbis, Anastasios, Kotanidou, Eleni P., Litou, Eleni, Dokousli, Vaia, Mouzaki, Konstantina, Fanis, Pavlos, Neocleous, Vassos, Skordis, Nicos
Formato: Artigo
Idioma:Inglês
Publicado em: Galenos Publishing 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5838376/
https://ncbi.nlm.nih.gov/pubmed/28739554
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.4829
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