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Child with ‘46, XX’ disorder of sex development: clues to diagnose aromatase deficiency
A diagnosis of congenital adrenal hyperplasia (CAH) in a ‘46, XX’ newborn with ambiguous genitalia is like a ‘knee jerk reaction’ of the paediatrician because of its higher frequency and life-threatening consequences if remain undiagnosed and hence untreated. Aromatase deficiency (AD), a rare cause...
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| Опубликовано в: : | BMJ Case Rep |
|---|---|
| Главные авторы: | , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BMJ Publishing Group
2019
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7001710/ https://ncbi.nlm.nih.gov/pubmed/31801784 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2019-232575 |
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