Objectives: To report the findings and management of patients with persistent Müllerian duct syndrome (PMDS).
Patients And Methods: Nineteen phenotypically male patients (aged 8 months to 27 years) presented with testicular maldescent. All of them had normal male external genitalia. Two of them had had a previous diagnosis of persistent Müllerian structures. All patients were karyotyped, and had a hormonal profile, diagnostic laparoscopy, retrograde urethrocystogram, gonadal biopsies, and surgical management according to the findings. The follow-up was based on a clinical examination, abdominal ultrasonography (US) and scrotal colour-Doppler US at 3 and 6 months after surgery, and every 6 months thereafter.
Results: Diagnostic laparoscopy showed the presence of persistent Müllerian structures in all 19 patients. All patients had a normal male karyotype (46XY). Ten patients had a laparoscopic excision of their Müllerian structures while the remaining nine patients had their Müllerian structures left in place. No malignant changes were found in the excised Müllerian tissues. Of the 37 gonadal biopsies taken, 31 (84%) indicated normal testes.
Conclusions: The incidence and prevalence of PMDS are not well estimated. Müllerian structures should be removed whenever possible to avoid the risk of malignant transformation. The early diagnosis of PMDS makes possible the excision of Müllerian structures and a primary orchidopexy. A long-term follow-up is needed for patients with intact Müllerian structures and magnetic resonance imaging might be a better method than US for that purpose. Most of the patients had normal testicular histology, which might allow fertility.
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| http://dx.doi.org/10.1016/j.aju.2014.04.001 | DOI Listing |
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