Background: Persistent Müllerian duct syndrome (PMDS) is a relatively rare autosomal recessive disorder of sex development (DSD), characterized by the presence of Müllerian duct derivatives in 46,XY phenotypic males. PMDS is due to mutations in the AMH gene or its type II receptor gene AMHR2. To date; more than 50 different mutations of the anti-Müllerian hormone (AMH) gene have been reported.
Case report: Here, we report a novel mutation of AMH in an Egyptian patient with PMDS. A 3-year-old male presented with bilateral cryptorchidism and normal male external genitalia. A laparoscopic surgery revealed a uterus and fallopian tubes. Serum AMH was very low (0.1 ng/ml). The patients uncle had infertility, bilateral cryptorchidism and very low serum AMH (>0.1 ng/ml). Genetic analysis of AMH gene showed a homozygous novel frameshift mutation c.203delC (p.L70Cfs*7) in exon 1. This mutation is predicted to result in early truncated protein. Both parents were heterozygous for the mutation.
Conclusion: In conclusion, PMDS should be included in differential diagnosis of cryptorchidism.
Funding: This work was supported by the IRD (France) and STDF (Egypt).
01 - 03 Oct 2015
European Society for Paediatric Endocrinology