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

Author:

Singhania Pankaj,Dash Debasish,Dhar Abhranil,Biswas Pritam,Gargari Piyas,Bhattacharjee RanaORCID,Chowdhury SubhankarORCID,Datta Dipanjana,Banerjee Emili

Publisher

Elsevier BV

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference17 articles.

1. Effect of testosterone and estradiol in a man with aromatase deficiency;Carani;N. Engl. J. Med.,1997

2. Aromatase deficiency caused by a novel P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy;Deladoëy;J. Clin. Endocrinol. Metab.,1999

3. Estrogen receptors and human diseasec;Deroo;J. Clin. Invest.,2006

4. Structural basis for androgen specificity and oestrogen synthesis in human aromatase;Ghosh;Nature,2009

5. Of mice and men: the evolving phenotype of aromatase deficiency;Jones;Trends Endocrinol. Metab.,2006

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