Androgen insensitivity is a disorder characterized by an abnormal male sexual development, in which the androgen action is impaired due to structural defects in the androgen receptor gene. We report a case of a 46,XY subject with female phenotype (normal breast and external genitalia) lacking sexual hair, affected with primary amenorrhea. In this patient, we found a deletion of a large region of the androgen receptor gene encoding the steroid-binding domain of the protein, causing a complete inability to bind the androgens. This uncommon molecular defect impaired the expression of androgen-dependent genes inducing the female phenotype.

Moretti, C., Odorisio, T., Geremia, R., Grimaldi, P. (2006). An uncommon large deletion in the androgen-receptor gene in a XY female with complete androgen insensitivity syndrome. JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 29(5), 457-461.

An uncommon large deletion in the androgen-receptor gene in a XY female with complete androgen insensitivity syndrome

MORETTI, COSTANZO;GEREMIA, RAFFAELE;GRIMALDI, PAOLA
2006

Abstract

Androgen insensitivity is a disorder characterized by an abnormal male sexual development, in which the androgen action is impaired due to structural defects in the androgen receptor gene. We report a case of a 46,XY subject with female phenotype (normal breast and external genitalia) lacking sexual hair, affected with primary amenorrhea. In this patient, we found a deletion of a large region of the androgen receptor gene encoding the steroid-binding domain of the protein, causing a complete inability to bind the androgens. This uncommon molecular defect impaired the expression of androgen-dependent genes inducing the female phenotype.
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore BIO/16
English
Con Impact Factor ISI
Receptors, Androgen; Blotting, Southern; Humans; Amenorrhea; Androgen-Insensitivity Syndrome; Adolescent; Male; Female; Gene Deletion
Moretti, C., Odorisio, T., Geremia, R., Grimaldi, P. (2006). An uncommon large deletion in the androgen-receptor gene in a XY female with complete androgen insensitivity syndrome. JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 29(5), 457-461.
Moretti, C; Odorisio, T; Geremia, R; Grimaldi, P
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/45952
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