Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management

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ABSTRACT

Main findings:

A typical male looking adolescent with a legal female gender assignment presented with haematuria. Investigations led to the diagnosis of Persistent Mullerian Duct Syndrome. The condition is indeed a rare entity that needs a multidisciplinary team management.

Case hypothesis:

A case of Persistent Mullerian Duct Syndrome undiagnosed at birth because karyotyping was defaulted, thus resulting in a significant impact on the legal gender assignment and psychosocial aspects.

Promising future implications:

The reporting of this case is important to create awareness due to its rarity coupled with the rare presentation with hematuria as a possible masquerade to menstruation. There were not only medical implications, but also psychosocial and legal connotations requiring a holistic multidisciplinary management.

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Most cited references 73

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Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers.

Leendert H. J. Looijenga, Stenvert Drop, Katja Wolffenbuttel … (2006)

The risk for the development of germ cell tumors is an important factor to deal with in the management of patients with disorders of sex development (DSD). However, this risk is often hard to predict. Recently, major progress has been made in identifying gene-products related to germ cell tumor development (testis-specific protein-Y encoded and octamer binding transcription factor 3/4) and in recognizing early changes of germ cells (maturation delay, preneoplastic lesions, and in situ neoplasia). The newly recognized "undifferentiated gonadal tissue" has been identified as a gonadal differentiation pattern bearing a high risk for the development of gonadoblastoma. It is expected that the combination of these findings will allow for estimation of the risk for tumor development in the individual patient (high risk/intermediate risk/low risk). This article reviews the recent literature regarding the prevalence of germ cell tumors in patients with DSD. Some major limitations regarding this topic, including a confusing terminology referring to the different forms of intersex disorders and unclear criteria for the diagnosis of malignant germ cells at an early age (maturation delay vs. early steps in malignant transformation) are discussed. Thereafter, an overview of the recent advances that have been made in our knowledge of germ cell tumor development and the correct diagnosis of early neoplastic lesions in this patient population is provided. A new classification system for patients with DSD is proposed as a tool to refine our insight in the prevalence of germ cell tumors in specific diagnostic groups.

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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.

Jasmin Farikullah, Sarah Ehtisham, Simona Nappo … (2012)

Study Type--Therapy (case series) Level of Evidence 4. What'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.

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Is Open Access

State of the art review in gonadal dysgenesis: challenges in diagnosis and management

Bonnie McCann-Crosby, Roshanak Mansouri, Jennifer Dietrich … (2014)

Gonadal dysgenesis, a condition in which gonadal development is interrupted leading to gonadal dysfunction, is a unique subset of disorders of sexual development (DSD) that encompasses a wide spectrum of phenotypes ranging from normally virilized males to slightly undervirilized males, ambiguous phenotype, and normal phenotypic females. It presents specific challenges in diagnostic work-up and management. In XY gonadal dysgenesis, the presence of a Y chromosome or Y-chromosome material renders the patient at increased risk for developing gonadal malignancy. No universally accepted guidelines exist for identifying the risk of developing a malignancy or for determining either the timing or necessity of performing a gonadectomy in patients with XY gonadal dysgenesis. Our goal was to evaluate the literature and develop evidence-based medicine guidelines with respect to the diagnostic work-up and management of patients with XY gonadal dysgenesis. We reviewed the published literature and used the Grading of Recommendation, Assessment, Development, and Evaluation (GRADE) system when appropriate to grade the evidence and to provide recommendations for the diagnostic work-up, malignancy risk stratification, timing or necessity of gonadectomy, role of gonadal biopsy, and ethical considerations for performing a gonadectomy. Individualized health care is needed for patients with XY gonadal dysgenesis, and the decisions regarding gonadectomy should be tailored to each patient based on the underlying diagnosis and risk of malignancy. Our recommendations, based on the evidence available, add an important component to the diagnostic and management armament of physicians who treat patients with these conditions.

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Author and article information

Journal

Journal ID (nlm-ta): Int Braz J Urol

Journal ID (iso-abbrev): Int Braz J Urol

Journal ID (publisher-id): ibju

Title: International Brazilian Journal of Urology : official journal of the Brazilian Society of Urology

Publisher: Sociedade Brasileira de Urologia

ISSN (Print): 1677-5538

ISSN (Electronic): 1677-6119

Publication date (Print and electronic): Nov-Dec 2016

Publication date (Print): Nov-Dec 2016

Volume: 42

Issue: 6

Pages: 1237-1243

Affiliations

[1 ]Department of Obstetrics & Gynaecology, Hospital Sultanah Bahiyah, Kedah Darul Aman, Malaysia

[2 ]Fertility Clinic, Skive Regional Hospital, Denmark

[3 ]Androfert, Andrology & Human Reproduction Clinic, Referral Center for Male Reproduction, Campinas, Brazil

[4 ]Faculty of Health, Aarhus University, Denmark

Author notes

Correspondence address: Peter Humaidan, DMSc, The Fertility Clinic, Skive Regional Hospital, Faculty of Health, Aarhus University, Resenvej 25, 7800 Skive, Denmark, Telephone: +45 23 815-991, E-mail: peter.humaidan@ 123456midt.rm.dk

CONFLICT OF INTEREST

None declared.

Article

Publisher ID: S1677-5538.IBJU.2016.0225

DOI: 10.1590/S1677-5538.IBJU.2016.0225

PMC ID: 5117982

PubMed ID: 27532119

SO-VID: 25c988ce-57f3-4e79-977e-42595cb1a435

License:

This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

History

Date received : 16 April 2016

Date revision received : 25 April 2016

Date accepted : 17 August 2016

Page count

Figures: 2, Tables: 1, Equations: 0, References: 40, Pages: 7

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Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management

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ABSTRACT

Main findings:

Case hypothesis:

Promising future implications:

Related collections

Cures Within Reach: Autoimmune Lymphoproliferative Syndrome (ALPS)

Most cited references 73

Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers.

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.

State of the art review in gonadal dysgenesis: challenges in diagnosis and management

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