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

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.

journal_name

J Endocrinol Invest

journal_title

Journal of endocrinological investigation

authors

Moretti C,Odorisio T,Geremia R,Grimaldi P

doi

10.1007/BF03344130

subject

Has Abstract

pub_date

2006-05-01 00:00:00

pages

457-61

issue

5

eissn

0391-4097

issn

1720-8386

pii

1447

journal_volume

29

pub_type

杂志文章

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