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Normal male external genitalia do not rule out CYP11A1 deficiency
Defects in the initial steps of steroidogenesis usually present with female external genitalia in both 46,XX and 46,XY. Hence, they are not often considered in the differential diagnosis of primary adrenal insufficiency children with normal male external genitalia. Here, we report a boy with normal...
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| Publicado no: | BMJ Case Rep |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6615807/ https://ncbi.nlm.nih.gov/pubmed/31289154 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-228235 |
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