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

Singhania, Pankaj; Dash, Debasish; Dhar, Abhranil; Biswas, Pritam; Gargari, Piyas; Bhattacharjee, Rana; Chowdhury, Subhankar; Datta, Dipanjana; Banerjee, Emili

Singhania, Pankaj; Dash, Debasish; Dhar, Abhranil; Biswas, Pritam; Gargari, Piyas; Bhattacharjee, Rana; Chowdhury, Subhankar; Datta, Dipanjana; Banerjee, Emili.

Afiliación

Singhania P; Department of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research/SSKM Hospital, 244, AJC Bose Road, Kolkata 700020, West Bengal, India.
Dash D; Department of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research/SSKM Hospital, 244, AJC Bose Road, Kolkata 700020, West Bengal, India.
Dhar A; Department of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research/SSKM Hospital, 244, AJC Bose Road, Kolkata 700020, West Bengal, India.
Biswas P; Department of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research/SSKM Hospital, 244, AJC Bose Road, Kolkata 700020, West Bengal, India.
Gargari P; Department of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research/SSKM Hospital, 244, AJC Bose Road, Kolkata 700020, West Bengal, India.
Bhattacharjee R; Department of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research/SSKM Hospital, 244, AJC Bose Road, Kolkata 700020, West Bengal, India.
Chowdhury S; Department of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research/SSKM Hospital, 244, AJC Bose Road, Kolkata 700020, West Bengal, India.
Datta D; Institute of Child Health, Kolkata, India.
Banerjee E; Organization of Rare Disease, Bengaluru, India.

Bone Rep ; 17: 101642, 2022 Dec.

Article en En | MEDLINE | ID: mdl-36504506

Palabras clave

Aromatase; DXA, dual energy X-ray absorptiometry; Epiphysis; Estradiol; FSH, follicle stimulating hormone; IGF1, insulin like growth factor 1; Knock knee; LH, luteinising hormone; Tall stature

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