Novel mutations of AMHR2 in two families with persistent Müllerian duct syndrome
Persistent Müllerian duct syndrome(PMDS)is a rare disorder that arises from a lack of active anti-Müllerian hormone(AMH)or type Ⅱ AMH receptor(AMHR2)deficiency in males with a normal 46,XY chromosome karyotype.It presents that the external genitalia appears normally while the Müllerian duct structure(uterus,fallopian tubes,upper vagina)persists in the body.Common pathogenic factors are mutations in the AMH and AMHR2 genes,inherited in an autosomal recessive manner.This study reported two families with PMDS.The first patient was diagnosed with PMDS due to cryptorchidism in May 2019.Gene sequencing analysis revealed a new missense mutation(c.579G＞T;p.W193C)and a splicing mutation(c.622-3C＞A;splicing)in the AMHR2 gene.His father had the missense mutation(c.579G＞T;p.W193C),and his mother had the splicing mutation(c.622-3C＞A;splicing).The second patient was diagnosed with PMDS due to bilateral cryptorchidism,transverse testis ectopia in the right testicle in March 2023.Undegraded Müllerian tube derivatives were found between the two testicles,and serum AMH levels were very high(565.00 μg/L).Gene sequencing analysis reported that the AMHR2 gene had a new deletion mutation(c.835_837del;p.Leu279del).Both his father and mother had a deletion mutation(c.835_837del;p.Leu279del).This study reports two new AMHR2 gene mutations that expand the mutation sites of this rare disease.It is recommended to consider PMDS in the differential diagnosis of cryptorchidism,undergo surgery as early as possible,and treat Mullerian duct derivatives based on individual anatomical characteristics.
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