title: Persistent Müllerian Duct Syndrome with Transverse Testicular Ectopia: A Novel Anti-Müllerian Hormone Receptor Mutation.
abstract: Persistent Müllerian duct syndrome is the result of either anti-Müllerian hormone (AMH) deficiency or AMH receptor resistance. A long tubular structure was palpated during the physical examination of a 13-month-old male patient who had presented with bilateral undescended testes. At physical examination, the testes were not palpable. The patient's karyotype was XY, SRY (+), and his AMH level was 22 ng/mol. Structures suggestive of ovaries, a uterus, and fallopian tubes were observed during the laparoscopic examination of the ectopic testis. AMHR2 gene sequence analysis performed with a preliminary diagnosis of AMH receptor resistance revealed a previously unreported homozygous c.24G>A (p.W8X) mutation. The patient was assessed as a case of AMH receptor resistance. Orchiopexy was performed.
authors.affiliation: Ege University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey, E-mail: ozlem-korkmazz@hotmail.com.
authors.forename: Özlem
authors.initials: Ö
authors.lastname: Korkmaz
authors.forename: Samim
authors.initials: S
authors.lastname: Özen
authors.forename: Nurhan
authors.initials: N
authors.lastname: Özcan
authors.forename: Petek
authors.initials: P
authors.lastname: Bayındır
authors.forename: Sait
authors.initials: S
authors.lastname: Şen
authors.forename: Hüseyin
authors.initials: H
authors.lastname: Onay
authors.forename: Damla
authors.initials: D
authors.lastname: Gökşen
authors.forename: Ali
authors.initials: A
authors.lastname: Avanoğlu
authors.forename: Ferda
authors.initials: F
authors.lastname: Özkınay
authors.forename: Şükran
authors.initials: Ş
authors.lastname: Darcan
mesh_terms: D003456:Cryptorchidism / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D058490:Disorder of Sex Development, 46,XY / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D056126:Orchiopexy / Q000379:methods*; D018000:Receptors, Peptide / Q000235:genetics; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics; D013737:Testis / Q000002:abnormalities* / Q000601:surgery
chemical_list: D018000:Receptors, Peptide; D018125:Receptors, Transforming Growth Factor beta; C084621:anti-Mullerian hormone receptor
keywords: Undescended testis; anti-Müllerian hormone receptor mutation anti-Müllerian hormone receptor resistance.