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Published on: August 15, 2019
A novel AMHR2 gene mutation causing transverse testicular ectopia: A rare case report and literature review
Tien Dung Mai Ba1,2, Quang Tuan Dang2, Van Hao Pham2
1Department of Andrology and Nephro-Urology, Pham Ngoc Thach University of Medicine, Ho Chi Minh City, Viet Nam.
Abstract:
Transverse testicular ectopia (TTE) is a rare anomaly often associated with persistent Müllerian duct syndrome and infertility. We report a 34-year-old man with primary infertility, a vacant right hemiscrotum, and a left scrotal mass. MRI showed both testes in the left hemiscrotum, with a heterogeneous right ectopic testicular tumor. Surgery confirmed TTE without gross Müllerian remnants; bilateral orchiectomy was performed because of malignancy and contralateral atrophy. Histopathology revealed seminoma. Genetic testing identified novel compound heterozygous AMHR2 variants. This case highlights the value of MRI, genetic evaluation, and early management to reduce infertility and malignant transformation risks in TTE patients worldwide.
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