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A case of combined 21‐hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism
BACKGROUND: 21‐hydroxylase deficiency (21‐OHD) is caused due to CYP21A2 gene variant. In males, the excess androgens produce varying degrees of penile enlargement and small testes. CHARGE syndrome (CS) has a broad spectrum of symptoms. In males, genital features such as micropenis and cryptorchidism...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565577/ https://www.ncbi.nlm.nih.gov/pubmed/31060112 http://dx.doi.org/10.1002/mgg3.730 |