Dear Editor,Persistent Mullerian duct syndrome(PMDS;Online Mendelian Inheritance in Man[OMIM]:#261550)is a rare autosomal recessive inherent difference in sex development in males with Mullerian duct derivatives,inclu...Dear Editor,Persistent Mullerian duct syndrome(PMDS;Online Mendelian Inheritance in Man[OMIM]:#261550)is a rare autosomal recessive inherent difference in sex development in males with Mullerian duct derivatives,including the uterus,fallopian tubes,and upper part of the vagina.'Approximately 88%of PMDS patients were found to have biallelic variants in the anti-Mullerian hormone(AMH;OMIM:*600957)or AMH type 2 receptor(AMHR2;OMIM:*600956)genes,and the rest were referred as idiopathic.I The serum AMH levels are usually very low or undetectable in PMDS patients with AMH gene mutations but normal or elevated in those with AMHR2 gene mutations.Here,an adult Chinese patient with PMDS carrying biallelic variants of the AMH gene was reported to have unexpectedly normal serum AMH level.Please refer to Supplementary Information of Patient and Methods for methodologies.展开更多
Dear Editor,Persistent Müllerian duct syndrome(PMDS,MIM 261550)is an autosomal recessive inherent disorder of sex development in normally masculinized subjects with Müllerian duct derivatives,including the u...Dear Editor,Persistent Müllerian duct syndrome(PMDS,MIM 261550)is an autosomal recessive inherent disorder of sex development in normally masculinized subjects with Müllerian duct derivatives,including the uterus,fallopian tubes,and upper part of the vagina.1 PMDS is very rare with presentations of bilateral cryptorchidism(55%),unilateral cryptorchidism with contralateral hernia(20%),or transverse testicular ectopia(25%).展开更多
Osteogenesis imperfecta(OI),also known as brittle bone disease,is characterized by low bone mass and bone fragil-ity,which varies in severity from asymptomatic to perina-tal lethality[1].Most patients with OI experien...Osteogenesis imperfecta(OI),also known as brittle bone disease,is characterized by low bone mass and bone fragil-ity,which varies in severity from asymptomatic to perina-tal lethality[1].Most patients with OI experience recur-rent bone fractures with or without short stature,facial dysmorphism,and skeletal deformities.The accompany-ing extraskeletal manifestations include blue sclerae,joint laxity,dentinogenesis imperfecta,and hearing impairment.Approximately 85-90%of patients with OI have mutations in either COL1A1 or COL1A2,which elicit defects in typeⅠcollagen.Recently,an X-linked subtype of OI that is unre-lated to collagen was identified and was attributed to muta-tions in the plastin 3 gene(PLS3)[2].展开更多
基金supported by grant from the Natural Science Foundation of Liaoning Province(No.2022 MS 208)the 345 Talent of Shengjing Hospital of China Medical University(No.M1395)the General Project of Shengjing Hospital of China Medical University(No.2023-M 1643).
文摘Dear Editor,Persistent Mullerian duct syndrome(PMDS;Online Mendelian Inheritance in Man[OMIM]:#261550)is a rare autosomal recessive inherent difference in sex development in males with Mullerian duct derivatives,including the uterus,fallopian tubes,and upper part of the vagina.'Approximately 88%of PMDS patients were found to have biallelic variants in the anti-Mullerian hormone(AMH;OMIM:*600957)or AMH type 2 receptor(AMHR2;OMIM:*600956)genes,and the rest were referred as idiopathic.I The serum AMH levels are usually very low or undetectable in PMDS patients with AMH gene mutations but normal or elevated in those with AMHR2 gene mutations.Here,an adult Chinese patient with PMDS carrying biallelic variants of the AMH gene was reported to have unexpectedly normal serum AMH level.Please refer to Supplementary Information of Patient and Methods for methodologies.
基金supported by grant from the National Key Research and Development Project(2021YFC1005300,2021YFC1005304,and 2018YFC1004202)the Natural Science Foundation of Liaoning Province(2022-MS-208)the 345 Talent of Shengjing Hospital of China Medical University(C0101).
文摘Dear Editor,Persistent Müllerian duct syndrome(PMDS,MIM 261550)is an autosomal recessive inherent disorder of sex development in normally masculinized subjects with Müllerian duct derivatives,including the uterus,fallopian tubes,and upper part of the vagina.1 PMDS is very rare with presentations of bilateral cryptorchidism(55%),unilateral cryptorchidism with contralateral hernia(20%),or transverse testicular ectopia(25%).
基金supported by grants from The National Key Research andDevelopment Program ofChina(2021YFC1000300,2021YFC1000304)NewMedical Technology and Project of China Medical University(112-3110210717).
文摘Osteogenesis imperfecta(OI),also known as brittle bone disease,is characterized by low bone mass and bone fragil-ity,which varies in severity from asymptomatic to perina-tal lethality[1].Most patients with OI experience recur-rent bone fractures with or without short stature,facial dysmorphism,and skeletal deformities.The accompany-ing extraskeletal manifestations include blue sclerae,joint laxity,dentinogenesis imperfecta,and hearing impairment.Approximately 85-90%of patients with OI have mutations in either COL1A1 or COL1A2,which elicit defects in typeⅠcollagen.Recently,an X-linked subtype of OI that is unre-lated to collagen was identified and was attributed to muta-tions in the plastin 3 gene(PLS3)[2].
