Testicular Fusion in a Patient With Transverse Testicular Ectopia and Persistent Mullerian Duct Syndrome

Zhapa, Evisa; Castagnetti, Marco; Alaggio, Rita; Talenti, Enrico; Rigamonti, Waifro

doi:10.1016/j.urology.2009.10.032

Cited by 11 publications

(7 citation statements)

References 10 publications

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“…Both testes have descended into the same hemi-scrotum and are contained in the same hernial sac, together with the uterus and tubes. Testicular fusion has been reported in this condition [Zhapa et al, 2010].…”

Section: Position Of the Testesmentioning

confidence: 70%

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

Picard¹,

Cate

Racine³

et al. 2017

Sex Dev

144

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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Section: Position Of the Testesmentioning

confidence: 70%

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

Picard¹,

Cate

Racine³

et al. 2017

Sex Dev

144

169

View full text Add to dashboard Cite

show abstract

“…Both the testes are located in the same hernial sac along with the Müllerian structures (TTE). [6] Three patients of this series were of female, and two of them were of male type. Our last patient was a rare form of TTE ie.…”

Section: Discussionmentioning

confidence: 90%

Management of the patients with persistent Müllerian duct syndrome: Is the ultimate goal testicular descent?

Sancar¹,

Ozcakir²,

Kaya³

2018

Turkish Journal of Urology

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Objective: Persistent Müllerian duct syndrome (PMDS) is a rare congenital disease characterized by the presence of rudimentary Müllerian structures within an intra-abdominal or hernial sac in a virilized male, often presenting as undescended testes. In this study, we aim to present a series of the PMDS patients who were managed by orchiopexy without removal of Müllerian remnants (MR). Material and methods:Between May 2010 and June 2017, we treated six cases diagnosed as PMDS in our department. Laparoscopy and gonadal biopsy were performed in all patients, and vessel ligation was done in four patients for the first session of Stephen-Fowler orchiopexy. After initial diagnosis, genetic analyses and endocrine investigations were performed. Demographic and clinical features of the patients, operative methods and follow-up data were analyzed retrospectively.Results: Mean age of the patients was 5.5 years. Three boys had undergone inguinal surgery due to hernia or undescended testis, while others were diagnosed during laparoscopic investigation of nonpalpable testis. As a definitive operation, testes and MR were completely removed in an adult patient, and the remaining patients were treated with laparoscopic or open orchiopexy with or without utero-cervical splitting and the MRs were left in situ. Two testes atrophied during follow-up period. Conclusion:The goal of the approach in PMDS patients is to preserve testes, as well as carry them to their natural location. Leaving the MR in place is a suitable option for blood circulation of the testes but the longterm results are still unknown.

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“…шательства по поводу крипторхизма [3][4][5][6][7][8]. Таким образом, истинная частота СПМП остается неизвестной.…”

Section: случай поздней диагностики синдрома персистирующих мюллеровыunclassified

Familial case of late diagnosis of Persistence of Müllerian derivatives syndrome type 1

Kalinchenko

Brovin

Коstrova³

et al. 2018

Probl Endokrinol (Mosk)

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Persistent müllerian duct syndrome (PMDS) is a rare variant of the disorder of sex development (DSD) 46,XY characterized by the presence of Müllerian duct derivatives in 46,XY males. Since cryptorchidism is the only external manifestation of PMDS, until recently, PMDS was not diagnosed in patients and detection of Müllerian duct derivatives during the surgical treatment of cryptorchidism in patients with 46,XY karyotype was regarded as a variant of gonadal dysgenesis, leading to an erroneous choice of treatment strategy in these patients. Only the development of the molecular diagnostics methods, in particular, new generation sequencing, which enable simultaneous investigation of several candidate genes, provided accurate differential diagnosis of the PMDS. This article reports a clinical case of late diagnosis of the familial form of PMDS caused by mutation in the AMH gene. Detected persistent Müllerian derivatives in combination with agenesis of the testicle in the proband at an early age led to the diagnosis gonadal dysgenesis. Given the proven high risk of malignization of the gonads located outside the scrotum in patients with gonadal dysgenesis, the patient underwent removal of the only gonad located in the inguinal canal. The correct diagnosis was established after a comprehensive molecular genetic study using a new generation sequencing with the «disorders of sex development» panel. This study detected a homozygous mutation in the AMH gene.

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Testicular Fusion in a Patient With Transverse Testicular Ectopia and Persistent Mullerian Duct Syndrome

Cited by 11 publications

References 10 publications

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

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

Management of the patients with persistent Müllerian duct syndrome: Is the ultimate goal testicular descent?

Familial case of late diagnosis of Persistence of Müllerian derivatives syndrome type 1

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