Background: Anti-Mullerian hormone (AMH) is produced by Sertoli cells and signals through two transmembrane receptors (AMHR), specific type II and type I, leading to regression of Mullerian ducts (uterus and fallobian tubes) during fetal male sex differentiation. Mutations of AMH and AMHR-II genes lead to persistence of Mullerian ducts in males. These conditions are transmitted in a recessive autosomal pattern and are symptomatic in 46,XY phenotypic males.
Objective and hypotheses: Studying molecular pattern of 46,XY DSD wit persistent mullerian ducts.
Method: The entire coding regions of AMH and AMHR-II were amplified by PCR and directly sequenced in both directions.
Results: Two Egyptian 46,XY DSD patients presented with bilateral cryptorchidism, otherwise normal male external genitalia, and both had persistent mullerian ducts. A novel frameshift mutation in AMH gene was identified in the first patient, c.203delC (p.L70Cfs*7). On the other hand, sequencing the two genes in the second patient revealed a novel missense mutation in AMHR-II gene, c.767A>C(p.H256P).
Conclusion: Persistent mullerian ducts should be included in differential diagnosis of cryptorchidism.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology