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 Bayýndýr², Sait Þen³, Hüseyin Onay⁴, Damla Gökþen¹, Ali Avanoðlu⁵, Ferda Özkýnay⁴, Þükran Darcan^1
1Ege 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

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