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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...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6565577/ https://ncbi.nlm.nih.gov/pubmed/31060112 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.730 |
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