A Novel Homozygous CYP19A1 Gene Mutation Causing Aromatase Deficiency

Aromatase deficiency is a rare autosomal recessive disorder and its exact prevalence is not known. Aromatase enzyme catalyzes the conversion of androgens to estrogens in gonadal and extra-gonadal tissues. Deficiency of aromatase enzyme can lead to ambiguous genitalia in a female child and maternal v...

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Detalles Bibliográficos
Autores principales: Hathi, Deep, Goswami, Soumik, Sengupta, Nilanjan, Baidya, Arjun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Endocrinology/Diabetes/Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8916689/
https://www.ncbi.nlm.nih.gov/pubmed/35340461
http://dx.doi.org/10.7759/cureus.22059

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8916689/
https://www.ncbi.nlm.nih.gov/pubmed/35340461
http://dx.doi.org/10.7759/cureus.22059

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