title: 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.
authors.affiliation: Unit of Endocrinology, Department of Internal Medicine, University of Tor Vergata, Fatebenefratelli Hospital, Isola Tiberina, 00186 Rome, Italy. moretti@med.uniroma2.it
authors.forename: C
authors.initials: C
authors.lastname: Moretti
authors.forename: T
authors.initials: T
authors.lastname: Odorisio
authors.forename: R
authors.initials: R
authors.lastname: Geremia
authors.forename: P
authors.initials: P
authors.lastname: Grimaldi
mesh_terms: D000293:Adolescent; D000568:Amenorrhea / Q000235:genetics; D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D015139:Blotting, Southern; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D011944:Receptors, Androgen / Q000235:genetics*
chemical_list: D011944:Receptors, Androgen