Persistent Müllerian Duct Syndrome with Transverse Testicular Ectopia: A Novel Anti-Müllerian Hormone Receptor Mutation
Makaleler > Tam Makale · 2017
Yazarlar: Ö KORKMAZ, Samim ÖZEN, N ÖZCAN, PETEK BAYINDIR, Sait ŞEN, HÜSEYİN ONAY, Ruhsar Damla GÖKŞEN, ALİ AVANOĞLU, Feriştah Ferda ÖZKINAY, Şükran DARCAN
Journal of Clinical Research in Pediatric Endocrinology, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Wos, 2017, cilt 9, ss 179-181
DOI: 10.4274/jcrpe.4058
Özet
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.