Persistent müllerian duct syndrome with transverse testicular ectopia: A novel anti-müllerian hormone receptor mutation

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. © 2017 by turkish pediatric endocrinology and diabetes society.