The female internal sex organs develop from the paramesonephric （Mullerian） duct. In male embryos, the regression of the Mullerian duct is caused by the anti-Mullerian hormone （AMH）, which plays an important role ...The female internal sex organs develop from the paramesonephric （Mullerian） duct. In male embryos, the regression of the Mullerian duct is caused by the anti-Mullerian hormone （AMH）, which plays an important role in the process of testicular descent. The physiological remnant of the Mullerian duct in males is the appendix testis （AT）. In our previous study, we presented evidence for the decreased incidence of AT in cryptorchidism with intraoperative surgery. In this report, the expression of the anti-Mullerian hormone receptor type 2 （AMHR2）, the specific receptor of AMH, on the AT was investigated in connection with different urological disorders, such as hernia inguinalis, torsion of AT, cysta epididymis, varicocele, hydrocele testis and various forms of undescended testis. The correlation between the age of the patients and the expression of the AMHR2 was also examined. Reverse transcriptase-polymerase chain reaction （RT-PCR） and immunohistochemistry were used to detect the receptor＇s mRNA and protein levels, respectively. We demonstrate that AMHR2 is expressed in the ATs. Additionally, the presence of this receptor was proven at the mRNA and protein levels. The expression pattern of the receptor correlated with neither the examined urological disorders nor the age of the patients; therefore, the function of the AT remains obscure.展开更多
A 19 years old patient with primary amenorrhea was referred to our center. Based on discrepancy between high follicle stimulating hormone (FSH) level and normal ovarian reserve parameters, follicle stimulating hormone...A 19 years old patient with primary amenorrhea was referred to our center. Based on discrepancy between high follicle stimulating hormone (FSH) level and normal ovarian reserve parameters, follicle stimulating hormone receptor (FSHR) mutation was screened. The patient was homozygous in exon 6 of the FSHR gene for the new variant c.479T > C and predicted to result in an aminoacid substitution p.Ile160Thr. One year later, her anti-müllerian hormone (AMH) level inexplicably decreased. Oocyte vitrification was thus offered for fertility preservation. After 17 days of recombinant follicle stimulating hormone (recFSH) (900 IU daily), no follicular growth was seen and estradiol levels remained low. In vitro maturation (IVM) was then suggested. Ten oocytes were successfully vitrified.展开更多
Objective To explore the association of genetic polymorphisms in the genes encoding the anti-Miillerian hormone （AMH） and its type H receptor （AMHRII） with ovarian hyperstimulation syndrome （OHSS）. Methods Using...Objective To explore the association of genetic polymorphisms in the genes encoding the anti-Miillerian hormone （AMH） and its type H receptor （AMHRII） with ovarian hyperstimulation syndrome （OHSS）. Methods Using polymerase chain reaction （PCR） and DNA sequencing techniques, the exons of AMH and AMHRII were analyzed in 27 OHSS patients （OHSS group） and 22 non-OHSS patients （control group） who were applied controlled ovarian hyper- stimulation （COH）. Single nucleotide polymorphisms （SNPs） were also analyzed. Results SNPs G〉 T at position 146 of AMH exon 1 and G〉 A at position 134 of AMH exon 2 showed significant differences between the OHSS group and control group （P〈0.05）. SNP G〉 T at position 303 of AMH exon 1 showed no significant difference between the OHSS group and control group （P〉0.05）. No SNP was detected from the AMHR H exons 1 to 11 in either groups. Conclusion Genetic polymorphisms in the AMH gene may be a cause of ovarian hypersensitivity to exogenous hormone stimulation and the development of OHSS.展开更多
Persistent Müllerian duct syndrome(PMDS)is a rare clinically and genetically overlapping disorder caused by mutations in the anti-Müllerian hormone(AMH)gene or the anti-Müllerian hormone receptor type 2...Persistent Müllerian duct syndrome(PMDS)is a rare clinically and genetically overlapping disorder caused by mutations in the anti-Müllerian hormone(AMH)gene or the anti-Müllerian hormone receptor type 2(AMHR2)gene.Affected individuals present uterus and tubes in normally virilized males and are discovered unexpectedly during other surgeries.Since it is rare and complex,a definitive clinical diagnosis can be missed,and there are no guidelines regarding how to deal with the uterus.In the present study,exome sequencing and Sanger verification were performed for causal variants in 12 PMDS patients.Preoperative diagnoses were made by positive exome sequencing in 8 patients.Of them,7 patients evoked on the basis of ultrasound indicating bilateral testes on the same side of the body.Twelve different AMH variants(2 frameshift/nonsense,1 deletion,8 missense,and 1 in-frame)in 9 patients and 6 different AMHR2 variants(5 missense and 1 splicing)in 3 patients were identified.Seven variants were classified as“pathogenic”or“likely pathogenic”,and 4 of them were novel.All but two patients with AMH defects showed low serum AMH concentrations,but all patients with AMHR2 defects showed elevated AMH levels.During surgery,an abnormal vas deferens was observed in half of the patients.Eight patients underwent orchidopexy with uterine preservation.Of them,2 patients presented complications including irreducible cryptorchidism,and 3 patients developed Müllerian remnant cysts.Three patients underwent subtotal hysterectomy.Of them,one patient had complication of injury to the vas deferens,and one had hemorrhage after operation.This is the first report of PMDS involving a large Chinese population.The present study not only expands the variation spectrum but also provides clinical experience about the management of the uterus.展开更多
文摘The female internal sex organs develop from the paramesonephric （Mullerian） duct. In male embryos, the regression of the Mullerian duct is caused by the anti-Mullerian hormone （AMH）, which plays an important role in the process of testicular descent. The physiological remnant of the Mullerian duct in males is the appendix testis （AT）. In our previous study, we presented evidence for the decreased incidence of AT in cryptorchidism with intraoperative surgery. In this report, the expression of the anti-Mullerian hormone receptor type 2 （AMHR2）, the specific receptor of AMH, on the AT was investigated in connection with different urological disorders, such as hernia inguinalis, torsion of AT, cysta epididymis, varicocele, hydrocele testis and various forms of undescended testis. The correlation between the age of the patients and the expression of the AMHR2 was also examined. Reverse transcriptase-polymerase chain reaction （RT-PCR） and immunohistochemistry were used to detect the receptor＇s mRNA and protein levels, respectively. We demonstrate that AMHR2 is expressed in the ATs. Additionally, the presence of this receptor was proven at the mRNA and protein levels. The expression pattern of the receptor correlated with neither the examined urological disorders nor the age of the patients; therefore, the function of the AT remains obscure.
文摘A 19 years old patient with primary amenorrhea was referred to our center. Based on discrepancy between high follicle stimulating hormone (FSH) level and normal ovarian reserve parameters, follicle stimulating hormone receptor (FSHR) mutation was screened. The patient was homozygous in exon 6 of the FSHR gene for the new variant c.479T > C and predicted to result in an aminoacid substitution p.Ile160Thr. One year later, her anti-müllerian hormone (AMH) level inexplicably decreased. Oocyte vitrification was thus offered for fertility preservation. After 17 days of recombinant follicle stimulating hormone (recFSH) (900 IU daily), no follicular growth was seen and estradiol levels remained low. In vitro maturation (IVM) was then suggested. Ten oocytes were successfully vitrified.
基金supported by a scientific research grant from Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technologythe National Natural Science Fund (Project No. 81200474)
文摘Objective To explore the association of genetic polymorphisms in the genes encoding the anti-Miillerian hormone （AMH） and its type H receptor （AMHRII） with ovarian hyperstimulation syndrome （OHSS）. Methods Using polymerase chain reaction （PCR） and DNA sequencing techniques, the exons of AMH and AMHRII were analyzed in 27 OHSS patients （OHSS group） and 22 non-OHSS patients （control group） who were applied controlled ovarian hyper- stimulation （COH）. Single nucleotide polymorphisms （SNPs） were also analyzed. Results SNPs G〉 T at position 146 of AMH exon 1 and G〉 A at position 134 of AMH exon 2 showed significant differences between the OHSS group and control group （P〈0.05）. SNP G〉 T at position 303 of AMH exon 1 showed no significant difference between the OHSS group and control group （P〉0.05）. No SNP was detected from the AMHR H exons 1 to 11 in either groups. Conclusion Genetic polymorphisms in the AMH gene may be a cause of ovarian hypersensitivity to exogenous hormone stimulation and the development of OHSS.
基金This study was supported by National Key R&D Program of China(grant No.2018YFC1002702).
文摘Persistent Müllerian duct syndrome(PMDS)is a rare clinically and genetically overlapping disorder caused by mutations in the anti-Müllerian hormone(AMH)gene or the anti-Müllerian hormone receptor type 2(AMHR2)gene.Affected individuals present uterus and tubes in normally virilized males and are discovered unexpectedly during other surgeries.Since it is rare and complex,a definitive clinical diagnosis can be missed,and there are no guidelines regarding how to deal with the uterus.In the present study,exome sequencing and Sanger verification were performed for causal variants in 12 PMDS patients.Preoperative diagnoses were made by positive exome sequencing in 8 patients.Of them,7 patients evoked on the basis of ultrasound indicating bilateral testes on the same side of the body.Twelve different AMH variants(2 frameshift/nonsense,1 deletion,8 missense,and 1 in-frame)in 9 patients and 6 different AMHR2 variants(5 missense and 1 splicing)in 3 patients were identified.Seven variants were classified as“pathogenic”or“likely pathogenic”,and 4 of them were novel.All but two patients with AMH defects showed low serum AMH concentrations,but all patients with AMHR2 defects showed elevated AMH levels.During surgery,an abnormal vas deferens was observed in half of the patients.Eight patients underwent orchidopexy with uterine preservation.Of them,2 patients presented complications including irreducible cryptorchidism,and 3 patients developed Müllerian remnant cysts.Three patients underwent subtotal hysterectomy.Of them,one patient had complication of injury to the vas deferens,and one had hemorrhage after operation.This is the first report of PMDS involving a large Chinese population.The present study not only expands the variation spectrum but also provides clinical experience about the management of the uterus.
