Persistent mullerian duct syndrome and transverse testicular ectopia: embryology, presentation, and management

Wuerstle, Melanie; Lesser, Timothy; Hurwitz, Roger A.; Applebaum, Harry; Lee, Steven L.

doi:10.1016/j.jpedsurg.2007.09.003

Cited by 45 publications

(28 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…7,9,[11][12][13][14][15][16] Out of these, nearly 50% cases are reported in children. 9,11,13,22,23 Although histological picture of these gonads is normal in early life but they become dysplastic after third year of life. 23 This suggests a possible chance of benefit from early surgery.…”

Section: Accepted Manuscriptmentioning

confidence: 99%

Persistent mullerian duct syndrome: A 24-year experience

Saleem¹,

Ather

Mirza³

et al. 2016

Journal of Pediatric Surgery

View full text Add to dashboard Cite

Section: Accepted Manuscriptmentioning

confidence: 99%

Persistent mullerian duct syndrome: A 24-year experience

Saleem¹,

Ather

Mirza³

et al. 2016

Journal of Pediatric Surgery

View full text Add to dashboard Cite

“…Because of their normal external male phenotype, at birth PMDS patients are assigned to the male gender without doubt, while one or both testes are not palpable in the scrotum. PMDS is generally diagnosed after observing müllerian structures during surgery for inguinal hernias or undescended testes [Wuerstle et al, 2007;Kaya et al, 2014]. Two anatomic variants of PMDS have been described on the basis of the location of the testes and müllerian structures: male and female forms.…”

Section: Resultsmentioning

confidence: 99%

A Novel Mutation of <b><i>AMHR2</i></b> In Two Siblings with Persistent Müllerian Duct Syndrome

Çakır

Turan²,

Önay³

et al. 2017

Sex Dev

View full text Add to dashboard Cite

Persistent müllerian duct syndrome (PMDS) is characterized by the presence of müllerian duct derivatives in otherwise phenotypically normal males. It is caused in approximately 85% of the cases by mutations in the AMH gene or its type II receptor (AMHR2). We report on 2 brothers with normal external genitalia but high serum AMH levels. Sequence analysis of the AMHR2 gene in the 2 siblings revealed a novel homozygous missense mutation in exon 10 (p.V458L, c.1372G>T). PMDS is a rare condition, but it has to be considered in differential diagnosis of cryptorchidism with normal male genitalia.

show abstract

“…The condition is usually discovered unexpectedly at surgery for either impalpable testes or unilateral cryptorchidism with contralateral hernia. The anatomical pattern is not specific for AMH or AMHR-II mutations and may vary among siblings [3,6] as seen here for family I. Two variants have been described.…”

Section: Discussionmentioning

confidence: 99%

Mutations of the AMH Type II Receptor in Two Extended Families with Persistent Müllerian Duct Syndrome: Lack of Phenotype/Genotype Correlation

et al. 2012

View full text Add to dashboard Cite

Our goal was to compare phenotype and genotype in two extended Middle-Eastern families affected by persistent Müllerian duct syndrome due to mutations of the type II anti-Müllerian hormone receptor (AMHR-II). The first, consanguineous, family consisted of 6 boys and 2 girls, the second consisted of 4 girls and 2 boys. In family I, 4 boys and 1 girl were homozygous for a stop mutation in the 9th exon of AMHR-II, removing part of the intracellular domain of the protein. In family II, 1 girl and 1 boy were homozygous for a transversion changing conserved histidine 254 into a glutamine. Both homozygous girls were normal. In the homozygous males, the degree of development of Müllerian derivatives was variable. The uterus was well developed in 2 boys of family I and in the patient from family II; however, in 1 subject from family I, Müllerian derivatives were undetectable. Taken together, the diversity of clinical symptoms within the same sibship and the lack of correlation between the development of the Müllerian derivatives and the severity of the molecular defects suggest highly variable penetrance of the abnormal alleles and/or the existence of other genetic or epigenetic modifiers of gene expression.

show abstract

Persistent mullerian duct syndrome and transverse testicular ectopia: embryology, presentation, and management

Cited by 45 publications

References 12 publications

Persistent mullerian duct syndrome: A 24-year experience

Persistent mullerian duct syndrome: A 24-year experience

A Novel Mutation of <b><i>AMHR2</i></b> In Two Siblings with Persistent Müllerian Duct Syndrome

Mutations of the AMH Type II Receptor in Two Extended Families with Persistent Müllerian Duct Syndrome: Lack of Phenotype/Genotype Correlation

Contact Info

Product

Resources

About