Aromatase deficiency in a tall man: Case report of two novel mutations and review of literature

Aromatase (CYP19A1) is the only enzyme known to catalyse the conversion of androgen to estrogen. Aromatase deficiency occurs due to mutation in CYP19A1gene which has an autosomal recessive inheritance pattern. It leads to decrease in estrogen synthesis and delayed epiphyseal closure, eunuchoid habit...

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Detalles Bibliográficos
Autores principales: Singhania, Pankaj, Dash, Debasish, Dhar, Abhranil, Biswas, Pritam, Gargari, Piyas, Bhattacharjee, Rana, Chowdhury, Subhankar, Datta, Dipanjana, Banerjee, Emili
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9732115/
https://www.ncbi.nlm.nih.gov/pubmed/36504506
http://dx.doi.org/10.1016/j.bonr.2022.101642

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9732115/
https://www.ncbi.nlm.nih.gov/pubmed/36504506
http://dx.doi.org/10.1016/j.bonr.2022.101642

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