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SUN-028 Concomitant Mutations in the POR and AR Genes in a Boy Presenting with Micropenis and Premature Adrenarche

Background: Micropenis is caused either by a defect in androgen synthesis, conversion to Dihydrotestosterone, or action due to mutant androgen receptor. Premature adrenarche is caused by excess of adrenal androgens. Clinical case: A 6,5-year-old boy presented to our pediatric endocrinology clinic du...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Dermitzaki, Eleni, Manolakos, Emmanouil, Kleanthous, Kleanthis, Mastorakos, George, Papadimitriou, Dimitrios T
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7207317/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.1914
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