A case of Aromatase deficiency due to a novel CYP19A1 mutation

BACKGROUND: Aromatase deficiency is a rare, autosomal recessive disorder of which there are approximately twenty four case reports. The aromatase enzyme is crucial in the biosynthesis of oestrogens from androgens. The phenotype of aromatase deficiency therefore is the result of androgen excess and o...

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Detalles Bibliográficos
Autores principales: Gagliardi, Lucia, Scott, Hamish S, Feng, Jinghua, Torpy, David J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3936939/
https://www.ncbi.nlm.nih.gov/pubmed/24552606
http://dx.doi.org/10.1186/1472-6823-14-16

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3936939/
https://www.ncbi.nlm.nih.gov/pubmed/24552606
http://dx.doi.org/10.1186/1472-6823-14-16

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