J Clin Res Pediatr Endocrinol. 2017; 9(2): 179-181 | DOI: 10.4274/jcrpe.4058
Persistent Müllerian Duct Syndrome with Transverse Testicular Ectopia: A Novel Anti-Müllerian Hormone Receptor Mutation
Özlem Korkmaz1, Samim Özen1, Nurhan Özcan1, Petek Bayındır2, Sait Şen3, Hüseyin Onay4, Damla Gökşen1, Ali Avanoğlu5, Ferda Özkınay4, Şükran Darcan11Ege University Faculty Of Medicine, Department Of Pediatric Endocrinology, Izmir, Turkey
2Ege University Faculty Of Medicine, Department Of Radiology, Izmir, Turkey
3Ege University Faculty Of Medicine, Department Of Pathology, Izmir, Turkey
4Ege University Faculty Of Medicine, Department Of Genetics, Izmir, Turkey
5Ege University Faculty Of Medicine, Department Of Pediatric Surgery, Izmir, Turkey
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.
Keywords: Undescended testis, anti-Müllerian hormone receptor mutation, anti-Müllerian hormone receptor resistance
Özlem Korkmaz, Samim Özen, Nurhan Özcan, Petek Bayındır, Sait Şen, Hüseyin Onay, Damla Gökşen, Ali Avanoğlu, Ferda Özkınay, Şükran Darcan. Persistent Müllerian Duct Syndrome with Transverse Testicular Ectopia: A Novel Anti-Müllerian Hormone Receptor Mutation. J Clin Res Pediatr Endocrinol. 2017; 9(2): 179-181
Manuscript Language: English