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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...
Gorde:
| Argitaratua izan da: | BMJ Case Rep |
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| Egile Nagusiak: | , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
BMJ Publishing Group
2019
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| Gaiak: | |
| Sarrera elektronikoa: | 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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