Overview
Persistent Müllerian Duct Syndrome (PMDS) is a rare genetic disorder characterized by the persistence of Müllerian duct structures (uterus, fallopian tubes) in otherwise normally virilized males due to defects in anti-Müllerian hormone (AMH) synthesis or receptor function 1245.Diagnosis
Key Diagnostic Criteria:
- Presence of Müllerian structures (uterus, fallopian tubes) in males with normal male external genitalia.
- Normal serum testosterone levels with undetectable or low AMH levels 24.
Recommended Tests:
- Karyotyping to rule out chromosomal abnormalities.
- Gonadal biopsy for further genetic analysis.
- Preoperative sonography to identify Müllerian remnants preoperatively 4.
Grading:
- Diagnosis confirmed through clinical examination and genetic testing 14.Management
First-Line Treatments:
- Orchidopexy to manage cryptorchidism, ensuring careful dissection to avoid damage to the vas deferens 16.
- Surgical removal of Müllerian remnants if symptomatic, with caution to preserve testicular function 16.
Adjunctive Treatments:
- Lifelong palpatory follow-up for testicular health and monitoring for potential degeneration 3.
- Hormonal stimulation (e.g., human chorionic gonadotropin) for assessing testicular responsiveness 6.Special Populations
Pediatrics:
- Early surgical intervention for cryptorchidism and Müllerian remnant removal is crucial to prevent complications 16.
- Long-term follow-up necessary due to increased risk of testicular tumors 6.
Comorbidities:
- Testicular degeneration may occur, necessitating careful monitoring and potential early intervention 3.Key Recommendations
Perform orchidopexy in patients with cryptorchidism associated with PMDS to ensure proper testicular descent and function (Evidence: Moderate 16).
Conduct preoperative imaging (sonography) to identify Müllerian remnants preoperatively, facilitating better surgical planning (Evidence: Moderate 4).
Implement lifelong follow-up for testicular health and tumor surveillance in PMDS patients due to increased risk (Evidence: Expert opinion 6).References
1 Marcus KA, Halbertsma FJ, Picard JY, Otten BJ. A visual pitfall: persistent Müllerian duct syndrome (PMDS). Acta paediatrica (Oslo, Norway : 1992) 2008. link
2 Imbeaud S, Belville C, Messika-Zeitoun L, Rey R, di Clemente N, Josso N et al.. A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome. Human molecular genetics 1996. link
3 Imbeaud S, Rey R, Berta P, Chaussain JL, Wit JM, Lustig RH et al.. Testicular degeneration in three patients with the persistent müllerian duct syndrome. European journal of pediatrics 1995. link
4 Josso N, Picard JY, Imbeaud S, Carré-Eusèbe D, Zeller J, Adamsbaum C. The persistent müllerian duct syndrome: a rare cause of cryptorchidism. European journal of pediatrics 1993. link
5 Carré-Eusèbe D, Imbeaud S, Harbison M, New MI, Josso N, Picard JY. Variants of the anti-Müllerian hormone gene in a compound heterozygote with the persistent Müllerian duct syndrome and his family. Human genetics 1992. link
6 Fernandes ET, Hollabaugh RS, Young JA, Wilroy SR, Schriock EA. Persistent müllerian duct syndrome. Urology 1990. link80191-o)