AMHR2 mutation in persistent Müllerian duct syndrome: A case of transverse testicular ectopia
UroPrecisionBackgroud Persistent Müllerian duct syndrome (PMDS) is a rare condition characterized by the persistence of Müllerian duct structures in genotypic and phenotypic males.
Hangcheng Fu
exaly +3 more sources
Wt1 Is Required for the Regression of Müllerian Ducts in Male Mice by Inducing Wif1 and Osx Expression. [PDF]
Cell ProlifWt1 expressed in the MD mesenchyme promotes MD regression by inducing Wif1 and Osx transcription. In male mice, mesenchyme‐specific inactivation of Wt1 results in MD retention. ABSTRACT In mammals, Müllerian ducts (MDs) are the precursors of the female reproductive tract which regress in males during embryonic development.
Chen M +12 more
europepmc +2 more sources
AMH specifically targets neuronal AMHR2 to modulate the progression of polycystic ovary syndrome [PDF]
BMC Endocrine DisordersBackground Polycystic ovary syndrome (PCOS) is a prevalent reproductive endocrine disorder among women of childbearing age, characterized by elevated serum anti-Müllerian hormone (AMH) levels as a key biomarker.
Kaiming Wu +8 more
doaj +2 more sources
Molecular Genetics & Genomic Medicine, 2022 Background Persistent Müllerian duct syndrome (PMDS) is an autosomal recessive congenital abnormality in which Müllerian derivatives, uterus, cervix, upper two‐thirds of the vagina, and fallopian tubes persist in otherwise normally virilized males ...
Rui-Min Chen
exaly +2 more sources
Sex-Specific Gene Expression Ontogeny During Gonadal Development in Post-Metamorphic Xenopus tropicalis. [PDF]
Mol Reprod DevPost‐metamorphic gonadal development in Xenopus tropicalis was analyzed through integrated morphometric, histological, and transcriptional approaches. Males showed upregulation of cyp17, amh, and amhr2, whereas females exhibited an increased aldh1a2 and ddx4.
Marini D, Roza M, Berg C, Brouard V.
europepmc +2 more sources
Functional and transcriptomic insights into 46,XY disorders of sex development associated with NR5A1 gene variants [PDF]
Biology of Sex DifferencesBackground NR5A1 encodes a transcription factor essential for adrenal and gonadal development. Gene variants are a known cause of heterogeneous 46,XY disorders of sex development (DSD), but the mechanisms underlying the phenotypic variability remain ...
Qingxu Liu +4 more
doaj +2 more sources
A Trans-Species Missense SNP in Amhr2 Is Associated with Sex Determination in the Tiger Pufferfish, Takifugu rubripes (Fugu) [PDF]
PLoS Genetics, 2012 Heterogametic sex chromosomes have evolved independently in various lineages of vertebrates. Such sex chromosome pairs often contain nonrecombining regions, with one of the chromosomes harboring a master sex-determining (SD) gene. It is hypothesized that
Sho Hosoya, Satoshi Tasumi
exaly +2 more sources
Thoracic CancerBackground Non‐small cell lung cancer (NSCLC) is the leading cause of cancer‐related deaths worldwide despite advances in cancer therapeutics. In several gynecological cancers, anti‐Müllerian hormone receptor type 2 (AMHR2) mediates AMH‐induced growth ...
Daisuke Hayakawa, Ken Tajima
exaly +2 more sources
Case Report: Mixed gonadal dysgenesis with Müllerian remnants mimicking a prostatic utricle in a child with 45,X/46,XY/47,XYY mosaicism [PDF]
Frontiers in PediatricsBackgroundSex-chromosome mosaicism can cause discordant gonadal, ductal, and external genital development. Persistent Müllerian derivatives are classically associated with defects in anti-Müllerian hormone (AMH) production or AMH receptor type 2 (AMHR2 ...
Shuai Zhang, Chenying Zhou, Dianyong Liu
doaj +2 more sources
A novel AMHR2 gene mutation causing transverse testicular ectopia: A rare case report and literature review [PDF]
Urology Case ReportsTransverse testicular ectopia (TTE) is a rare anomaly often associated with persistent Müllerian duct syndrome and infertility. We report a 34-year-old man with primary infertility, a vacant right hemiscrotum, and a left scrotal mass.
Tien Dung Mai Ba +5 more
doaj +2 more sources