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

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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Bibliographic Details
Main Authors: Pankaj Singhania, Debasish Dash, Abhranil Dhar, Pritam Biswas, Piyas Gargari, Rana Bhattacharjee, Subhankar Chowdhury, Dipanjana Datta, Emili Banerjee
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Bone Reports
Subjects:
Aromatase
Knock knee
Tall stature
Estradiol
Epiphysis
Online Access:http://www.sciencedirect.com/science/article/pii/S2352187222004764

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http://www.sciencedirect.com/science/article/pii/S2352187222004764

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