Mixed Germ Cell Tumor after Bilateral Orchidopexy in Persistent Müllerian Duct Syndrome with Transverse Testicular Ectopia

Manassero, Francesca; Cuttano, Maria Giuseppa; Morelli, Girolamo; Salinitri, Giuseppe; Spurio, Michela; Selli, Cesare

doi:10.1159/000078809

Cited by 25 publications

(24 citation statements)

References 6 publications

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“…Manassero et al [2004] describe a patient with PMDS and transverse testicular ectopia with the presence of a mixed germ cell tumor (teratoma and embryonal carcinoma) in a testis in the scrotal position after orchidopexy at the age of 5 years, suggesting that orchidopexy early in life does not decrease the risk of malignancy in this patient group. Therefore, it has been suggested that orchidectomy should be performed [Berkmen, 1997].…”

Section: Discussionmentioning

confidence: 93%

A Novel AMH Missense Mutation in a Patient with Persistent Müllerian Duct Syndrome

Zwan¹,

Brüggenwirth²,

Drop³

et al. 2012

Sex Dev

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Persistent Müllerian duct syndrome (PMDS) is characterized by the presence of a uterus, fallopian tubes, and the upper part of the vagina in phenotypic normal male patients. 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. Biopsy of both gonads revealed that germ cells were present in an irregular distribution. However, the absence of OCT3/4, PLAP and c-KIT expression indicated physiological maturation.

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Section: Discussionmentioning

confidence: 93%

A Novel AMH Missense Mutation in a Patient with Persistent Müllerian Duct Syndrome

Zwan¹,

Brüggenwirth²,

Drop³

et al. 2012

Sex Dev

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“…Most tumours occur after puberty, therefore long-term follow-up should be mandatory for patients with PMDS [ 20,22,24 ] . The testis should be palpated and examined for any inconsistencies.…”

Section: Discussionmentioning

confidence: 99%

Persistent Müllerian duct syndrome: lessons learned from managing a series of eight patients over a 10‐year period and review of literature regarding malignant risk from the Müllerian remnants

Ehtisham²,

et al. 2012

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Study Type – Therapy (case series)Level of Evidence 4What's known on the subject? and What does the study add?Approximately 200 cases of persistent Müllerian duct syndrome have been reported over the last 50 years and most authors suggest leaving the Müllerian remnant in situ because of the difficulty in dissection and the presumed absence of risk of malignancy. However, with increasing reports of Müllerian malignancies emerging, we report our 10‐year experience of managing patients with persistent Müllerian duct syndrome, with removal of müllerian remnants.This case series shows that there is an increased risk of Müllerian malignancy that was previously unknown. With the laparoscopic approach, orchidopexy with simultaneous removal of Müllerian remnants could be accomplished with minimal surgical trauma and the benefit of no malignancy risk in the future. This is a new technique that has not been previously performed. Considering the current evidence of malignancy in the Müllerian remnant, surgeons would need to discuss with families about removal of remnants or long‐term monitoring.OBJECTIVES To describe the presentation and management of eight patients with persistent Müllerian duct syndrome (PMDS) seen over a 10‐year period at our tertiary centre. To review the literature of Müllerian malignancies reported in PMDS. PATIENTS AND METHODS The hospital records of eight patients with PMDS were retrospectively reviewed between 2001 and 2011. Extensive PubMed searches for PMDS and Müllerian malignancy were performed. RESULTS Eleven cases with PMDS and malignancy of the Müllerian remnants were identified. From our own PMDS series: five males presented with bilateral undescended testes and three had unilateral undescended testis. We found that the Müllerian remnants could be removed by laparoscopy and three patients had simultaneous laparoscopic removal of the Müllerian structures and laparoscopic orchidopexy. CONCLUSIONS The principle aim of orchidopexy with simultaneous laparoscopic removal of the Müllerian structures can be accomplished with minimal surgical trauma and the benefit of no malignancy risk in the future. Surgeons should consider excision of the Müllerian remnants where possible.

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“…Our own perusal of the literature yields a much higher figure: 33% of PMDS patients 18 years and older experienced some form of unilateral or bilateral malignant testicular degeneration. Seminomas are the most frequent, but choriocarcinomas [Giri et al, 2004;Aboutorabi et al, 2005], mixed germ cell tumors [Eastham et al, 1992;Manassero et al, 2004;Jaka and Shankar, 2007;Mohapatra and Subramanya, 2016], embryonal cell carcinoma [Melman et al, 1981;Carré-Eusèbe et al, 1992;Barad et al, 2016], gonadoblastomas [Morillo-Cucci and German, 1971], or yolk sac tumor [Snow et al, 1985] have also been described. In our own cohort, we encountered 3 testicular tumors (H069 and H050) [Carré-Eusèbe et al, 1992] and H009, all adults with AMH mutations (online suppl.…”

Section: Malignant Degenerationmentioning

confidence: 99%

The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases

Picard¹,

Cate

Racine³

et al. 2017

Sex Dev

132

169

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Male sex differentiation is driven by 2 hormones, testosterone and anti-müllerian hormone (AMH), responsible for the regression of müllerian ducts in male fetuses. Mutations inactivating AMH or its receptor AMHRII lead to the persistent müllerian duct syndrome (PMDS) in otherwise normally virilized 46,XY males. Our objective was to review the clinical, anatomical, and molecular features of PMDS based upon a review of the literature and upon 157 personal cases. Three clinical presentations exist: bilateral cryptorchidism, unilateral cryptorchidism with contralateral hernia, and transverse testicular ectopia. Abnormalities of male excretory ducts are frequent. Testicular malignant degeneration occurs in 33% of adults with the disorder, while cancer of müllerian derivatives is less frequent. Fertility is rare but possible if at least one testis is scrotal and its excretory ducts are intact. Eighty families with 64 different mutations of the AMH gene have been identified, mostly in exons 1, 2, and 5. AMHRII gene mutations representing 58 different alleles have been discovered in 75 families. The most common mutation, a 27-bp deletion in the kinase domain, was found in 30 patients of mostly Northern European origin. In 12% of cases, no mutation of AMH or AMHRII has been detected, suggesting a disruption of other pathways involved in müllerian regression.

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Mixed Germ Cell Tumor after Bilateral Orchidopexy in Persistent Müllerian Duct Syndrome with Transverse Testicular Ectopia

Cited by 25 publications

References 6 publications

A Novel <b><i>AMH</i></b> Missense Mutation in a Patient with Persistent Müllerian Duct Syndrome

A Novel <b><i>AMH</i></b> Missense Mutation in a Patient with Persistent Müllerian Duct Syndrome

Persistent Müllerian duct syndrome: lessons learned from managing a series of eight patients over a 10‐year period and review of literature regarding malignant risk from the Müllerian remnants

The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases

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