Persistent Mullerian duct syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
The normal serum testosterone level and undetectable AMH are highly suggestive of persistent Müllerian duct syndrome (PMDS), combined with clinical manifestations.
|
30381580 |
2020 |
Persistent Mullerian duct syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Homozygous or compound heterozygous alterations in AMH or AMHR2 have been identified in approximately 88% of PMDS cases.
|
30933950 |
2019 |
Persistent Mullerian duct syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
AMH or AMHR2 mutations in mammals lead to the development of Persistent Müllerian Duct Syndrome (PMDS), a recessive condition in which affected males are fully virilized but retain Müllerian duct-derived tissues, including a uterus and oviducts, and in human and dog, undescended testes.
|
31301298 |
2019 |
Persistent Mullerian duct syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Persistent mullerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism caused by defects in synthesis or actions of mullerian inhibiting factor characterised by persistence of mullerian duct structures in a normal karyotype male.
|
29669771 |
2018 |
Persistent Mullerian duct syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Persistent Müllerian Duct syndrome (PMDS) develops due to deficiency of anti-Müllerian hormone (AMH) or insensitivity of target organs to AMH in individuals with 46,XY karyotype.
|
29687786 |
2018 |
Persistent Mullerian duct syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases.
|
28528332 |
2017 |
Persistent Mullerian duct syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Persistent Müllerian duct syndrome is the result of either anti-Müllerian hormone (AMH) deficiency or AMH receptor resistance.
|
28094762 |
2017 |
Persistent Mullerian duct syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this report we describe a case diagnosed with PMDS with a novel homozygous mutation in the AMH gene.
|
28742509 |
2017 |
Persistent Mullerian duct syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Novel AMH and AMHR2 Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome.
|
28142151 |
2017 |
Persistent Mullerian duct syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations inactivating AMH or its receptor AMHRII lead to the persistent müllerian duct syndrome (PMDS) in otherwise normally virilized 46,XY males.
|
28528332 |
2017 |
Persistent Mullerian duct syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Persistent Müllerian duct syndrome (PMDS) is a rare type of male pseudohermaphroditism caused by a deficiency in anti-Müllerian hormone (AMH) or a defect in its type II receptor.
|
29285121 |
2017 |
Persistent Mullerian duct syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Persistent müllerian duct syndrome (PMD) with antimüllerian hormone (AMH) deficiency is usually associated with mutations or deletions of the AMH gene, although many cases have no identified gene association.
|
25820398 |
2015 |
Persistent Mullerian duct syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of the AMH gene mutation which is referred as p.Y531H (c.1591T>C), which resulted in different phenotypes of PMDS in three siblings.
|
26181047 |
2015 |
Persistent Mullerian duct syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of anti-Mullerian hormone gene in Persistent Mullerian Duct Syndrome presented with bilateral cryptorchidism: a case report.
|
23611722 |
2013 |
Persistent Mullerian duct syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Analysis of anti-Müllerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Müllerian duct syndrome.
|
23295284 |
2012 |
Persistent Mullerian duct syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Analysis of anti-Müllerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Müllerian duct syndrome.
|
23295284 |
2012 |
Persistent Mullerian duct syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Clinical and biological features of PMDS due to mutations in the genes coding for AMH or the AMH receptor, as well as genetic aspects and clinical management are discussed.
|
23044872 |
2012 |
Persistent Mullerian duct syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a patient diagnosed with PMDS with a novel homozygous missense mutation in the anti-Müllerian hormone (AMH) gene (single nucleotide insertion (C) at position 208 (c.208dup, p.Leu70fs)) leading to a frameshift and the introduction of a premature stop codon.
|
22797409 |
2012 |
Persistent Mullerian duct syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the AMH gene or its type II receptor gene AMHR2 lead to persistence of the uterus and fallopian tubes in male children, i.e. persistent müllerian duct syndrome (PMDS).
|
22188863 |
2011 |
Persistent Mullerian duct syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MIF or its type II receptor lead to persistence of the uterus and Fallopian tubes in male children--i.e., persistent Müllerian duct syndrome (PMDS).
|
20480734 |
2010 |
Persistent Mullerian duct syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the Mullerian inhibiting substance (MIS) gene or the MIS type II receptor (MISRII) gene have been identified in PMDS patients with autosomal recessive transmission.
|
14745940 |
2003 |
Persistent Mullerian duct syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome.
|
8872466 |
1996 |
Persistent Mullerian duct syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
A rare form of familial male pseudohermaphroditism, the persistent Müllerian duct syndrome (PMDS) is characterized by persistence of uterus and Fallopian tubes in 46,XY phenotypic males and is ascribed to defects in the synthesis or action of anti-Müllerian hormone (AMH).
|
8162013 |
1994 |
Persistent Mullerian duct syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Isolation of the human MIS receptor gene will facilitate the identification of human PMDS patients with normal levels of MIS that have mutations in the MIS receptor gene.
|
7828438 |
1994 |
Persistent Mullerian duct syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
PMDS has been attributed to deficient AMH activity or to abnormalities in the AMH receptor.
|
7907140 |
1994 |