Uterine adenosarcoma in a boy with persistent müllerian duct syndrome: first reported case

Thiel, David D.; Erhard, Michael

doi:10.1016/j.jpedsurg.2005.05.071

Cited by 49 publications

(37 citation statements)

References 7 publications

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“…In human patients, because surgical removal of the MD derivatives is often carried out when surgery in boys is also necessary for cryptorchid, nonpalpable testes and the vast majority of PMDS patients have mutations in MIS signaling components (8), later consequences of MD retention due to dysregulated Wnt/β-catenin signaling will be difficult to discern (37,38). However, there is one reported case of uterine adenosarcoma (39) and another of clear cell adenocarcinoma (40) in human patients with PMDS. We did not observe evidence of neoplastic transformation in the retained MD tissue of these mice by 3 mo.…”

Section: Discussionmentioning

confidence: 99%

Focal Müllerian duct retention in male mice with constitutively activated β-catenin expression in the Müllerian duct mesenchyme

Tanwar¹,

Zhang²,

Tanaka³

et al. 2010

Proc. Natl. Acad. Sci. U.S.A.

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Müllerian-inhibiting substance (MIS), which is produced by fetal Sertoli cells shortly after commitment of the bipotential gonads to testicular differentiation, causes Müllerian duct (MD) regression. In the fetal female gonads, MIS is not expressed and the MDs will differentiate into the internal female reproductive tract. We have investigated whether dysregulated β-catenin activity affects MD regression by expressing a constitutively activated nuclear form of β-catenin in the MD mesenchyme. We show that constitutively activated (CA) β-catenin causes focal retention of MD tissue in the epididymides and vasa deferentia. In adult mutant mice, the retained MD tissues express α-smooth muscle actin and desmin, which are markers for uterine differentiation. MD retention inhibited the folding complexity of the developing epididymides and usually led to obstructive azoospermia by spermatoceles. The MDs of urogenital ridges from mutant female embryos showed less regression with added MIS in organ culture compared with control MDs when analyzed by whole mount in situ hybridization for Wnt7a as a marker for the MD epithelium. CA β-catenin did not appear to affect expression of either MIS in the embryonic testes or its type II receptor (AMHR2) in the MD mesenchyme nor did it inhibit pSmad1/5/8 nuclear accumulation, suggesting that dysregulated β-catenin must inhibit MD regression independently of MIS signaling. These studies suggest that dysregulated Wnt/β-catenin signaling in the MD mesenchyme might also be a contributing factor in persistent Müllerian duct syndrome, a form of male pseudohermaphroditism, and development of spermatoceles.anti-Müllerian hormone | epididymis | Mullerian inhibiting substance type II receptor (MISRII or MISR2) | spermatocele | epididymis

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Section: Discussionmentioning

confidence: 99%

Focal Müllerian duct retention in male mice with constitutively activated β-catenin expression in the Müllerian duct mesenchyme

Tanwar¹,

Zhang²,

Tanaka³

et al. 2010

Proc. Natl. Acad. Sci. U.S.A.

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“…Malignancy can also develop from müllerian duct remnants. Adenocarcinoma of müllerian remnants and uterine adenosarcoma are reported in these patients [Romero et al, 2005;Thiel et al, 2005]. Malignancy was not detected in our patients neither at presentation nor during 6 and 4 years of followup, respectively.…”

Section: Resultsmentioning

confidence: 42%

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

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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.

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“…Earlier studies [8,12] opined that while removing the müllerian remnants, there is a high probability of damage to vas deferens and its blood supply with no disadvantage of conversion into malignancy, so they should not be removed. Thiel and Erhard reported the death of a 14-year-old boy with PMDS, due to metastasis of adenosarcoma arising from the müllerian remnant [14]. Romero et al reported a 39-year-old man who developed adenocarcinoma of endocervical origin, arising from the müllerian remnant [13].…”

Section: Discussionmentioning

confidence: 99%

Persistent Müllerian Duct Syndrome (PMDS): a Rare Anomaly the General Surgeon Must Know About

Agrawal¹,

Kataria²

2014

Indian J Surg

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Persistent Müllerian duct syndrome is a rare condition occasionally encountered in men with normal phenotype but with presence of Müllerian duct structures. In India, owing to neglect and lack of facilities, we encounter this condition in adult males. We encountered on the same day in the operation theatre two phenotypic males aged 40 years and 10 months who had inguinal hernia on one side along with contralateral undescended testis. Both patients intraoperatively had uterus with fallopian tubes and underwent subtotal hysterectomy with preservation of vas. Repair of inguinal hernia with fixation of the testis in the scrotum was done. Though rare, every surgeon operating upon inguinal hernia or undescended testes or cryptorchidism needs to know about the presence of the uterus in a phenotypic male patient at any age. High degree of suspicion and awareness is needed to diagnose this condition. Early treatment is needed to maintain fertility and to prevent the occurrence of malignancy in remnant müllerian structures.

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Uterine adenosarcoma in a boy with persistent müllerian duct syndrome: first reported case

Cited by 49 publications

References 7 publications

Focal Müllerian duct retention in male mice with constitutively activated β-catenin expression in the Müllerian duct mesenchyme

Focal Müllerian duct retention in male mice with constitutively activated β-catenin expression in the Müllerian duct mesenchyme

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

Persistent Müllerian Duct Syndrome (PMDS): a Rare Anomaly the General Surgeon Must Know About

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