title: R831X mutation of the androgen receptor gene in an adolescent with complete androgen insensitivity syndrome and bilateral testicular hamartomata.
abstract: An 18-year old, phenotypically female individual was examined for primary amenorrhea. Three months before her referral, the patient underwent surgery and a pelvic mass was removed. The physical examination revealed normal female external genitalia, normal breast development, sparse pubic hair and absence of axillary hair. The gynecological examination revealed a short blind vagina pouch and absence of cervix and uterus. Serum testosterone and dihydrotestosterone levels were very high. Karyotype was that of a normal male (46,XY). The transabdominal ultrasound, computed tomography (CT) and Magnetic resonance imaging (MRI) showed absence of uterus and fallopian tubes and revealed testis-like gonads located at the internal opening of the inguinal canal bilaterally. Bilateral gonadectomy was subsequently performed. The pathology report was that of "hamartomatous testes" and associated paratesticular leiomyoma. The clinical, laboratory, imaging, genetic and histological findings confirmed the diagnosis of complete androgen insensitivity syndrome. DNA analysis revealed a R831X mutation in exon 7 of the androgen receptor gene. A Sertoli-cell dynamic test showed elevated basal serum inhibin-B and anti-Müllerian hormone levels without further rise following FSH stimulation. The patient was started on hormone replacement therapy with conjugated estrogens. Complete androgen insensitivity syndrome must be considered in any case of primary amenorrhea. Gonadectomy must be planned to eliminate the risk of gonadal malignancy.
authors.affiliation: Unit of Reproductive Endocrinology, First Department of Obstetrics and Gynecology, Papageorgiou General Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece. dgg30@otenet.gr
authors.forename: Dimitrios G
authors.initials: DG
authors.lastname: Goulis
authors.forename: Paschalia K
authors.initials: PK
authors.lastname: Iliadou
authors.forename: Athanasios
authors.initials: A
authors.lastname: Papanicolaou
authors.forename: Ioannis
authors.initials: I
authors.lastname: Georgiou
authors.forename: Anthi
authors.initials: A
authors.lastname: Chatzikyriakidou
authors.forename: Spiridon
authors.initials: S
authors.lastname: Gerou
authors.forename: Ioannis N
authors.initials: IN
authors.lastname: Bondis
authors.forename: Ioannis
authors.initials: I
authors.lastname: Papadimas
mesh_terms: D000293:Adolescent; D013734:Androgen-Insensitivity Syndrome / Q000150:complications* / Q000235:genetics*; D054304:Anti-Mullerian Hormone; D013196:Dihydrotestosterone / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006023:Glycoproteins / Q000097:blood; D006222:Hamartoma / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D007985:Leydig Cells / Q000648:ultrastructure; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D011944:Receptors, Androgen / Q000235:genetics*; D012708:Sertoli Cells / Q000648:ultrastructure; D013733:Testicular Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D013735:Testicular Hormones / Q000097:blood
chemical_list: D006023:Glycoproteins; D011944:Receptors, Androgen; D013735:Testicular Hormones; D013196:Dihydrotestosterone; D054304:Anti-Mullerian Hormone; D005640:Follicle Stimulating Hormone