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Deficient pregnenolone synthesis associated with congenital adrenal hyperplasia and organelle dysfunction
Steroid hormones are essential for the survival of all mammals. In adrenal glands and gonads, cytochrome P450 side chain cleavage enzyme (SCC or CYP11A1), catalyzes conversion of cholesterol to pregnenolone. We studied a patient with ambiguous genitalia by the absence of Müllerian ducts and the pres...
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| Publicado no: | Endocrinol Diabetes Metab Case Rep |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Bioscientifica Ltd
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6499912/ https://ncbi.nlm.nih.gov/pubmed/31051467 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-19-0009 |
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