Korkmaz, OzlemOzen, SamimOzcan, NurhanBayindir, PetekSen, SaitOnay, HuseyinGoksen, DamlaAvanoglu, AliÖzkınay, FerdaDarcan, Sukran2019-10-272019-10-2720171308-57271308-5735https://doi.org/10.4274/jcrpe.4058https://hdl.handle.net/11454/32053Persistent Mullerian duct syndrome is the result of either anti-Mullerian 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.en10.4274/jcrpe.4058info:eu-repo/semantics/openAccessUndescended testisanti-Mullerian hormone receptor mutationanti-Mullerian hormone receptor resistanceArticle92179181WOS:00040644670001528094762Q3