Novel AMH and AMHR2 Mutations in Two Egyptian Families with Persistent M üllerian Duct Syndrome

Anti-m üllerian hormone (AMH) is produced by Sertoli cells and signals through 2 transmembrane receptors (AMHR), specific types I and II, leading to regression of müllerian ducts during fetal male sex differentiation. Mutations inAMH andAMHR2 lead to the persistence of m üllerian ducts in males which is transmitted in a recessive pattern. Here, we report 2 Egyptian DSD (disorder of sex development) patients reared as males who presented with bilateral cryptorchidism and otherwise normal male external genitalia and who both had a 46,XY karyotype. The first patient p resented at the age of 2 years. Laparoscopic surgery revealed a uterus and fallopian tubes with the presence of 2 gonads, and biopsy and pathology revealed prepubertal testicular tissue showing small-sized tubules with mostly Sertoli cells and very few spermatogonia, edematous stroma, and no detecta ble ovarian tissue. The second patient presented at the age of 3 years. Laparoscopic surgery revealed a uterus and fallopian tubes, and serum AMH was very low (0.1 ng/mL). Molecular studies revealed a novel missense mutation in theAMHR2 gene in the first patient (c.767A>C; p.H256P) and a novel frameshift mutation in theAMH gene in the second patient (c.203delC; p.L70Cfs*7). We conclude that persistent m üllerian ducts should be included in the differential diagnosis of cryptorchidism.Sex Dev

Source: Sexual Development - February 1, 2017 Category: Biology Source Type: research