ESPE Abstracts (2016) 86 P-P2-429

ESPE2016 Poster Presentations Gonads & DSD P2 (59 abstracts)

Novel AMH and AMHR-II Mutations in Two Egyptian Families with Persistent Mullerian Duct Syndrome

Inas Mazen , Mona El Gammal , Aya El Aidy & Mohamed Abdel Hamid

National Research Centre, Cairo, Egypt

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.

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