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CASE REPORT
Year : 2020  |  Volume : 9  |  Issue : 3  |  Page : 253-256

Persistent Mullerian duct syndrome in two brothers from a Saudi family with a homozygous variant in the AMHR2 gene


King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center, Jeddah, Saudi Arabia

Correspondence Address:
Adnan Al Shaikh
King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center, Jeddah
Saudi Arabia
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/sjhs.sjhs_169_20

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Persistent Mullerian duct syndrome (PMDS) is a rare disease characterized by normal virilization and XY genotype including failure of Mullerian duct regression. In this article, we report two cases of PMDS in Saudi patients with a pathogenic homozygous variant in the AMHR2 gene and review the literature. PMDS should be taken into consideration in all cases of bilateral cryptorchidism. Laparoscopy is the elective procedure for the diagnosis of this disease, and laparoscopic surgery for orchidopexy of intra-abdominal testes is the intervention of choice. It remains unclear at present whether the anti-Mullerian hormone is necessary to maintain normal testicular function. Early surgical intervention is important to reduce the risk of malignancy. The patient and his family should be completely informed about the diagnosis, the surgical options, and the need for long-term follow-up. A genetic cause can be strongly suggested in the presence of parental consanguinity.


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