Overview
Testicular regression syndrome (TRS) involves the partial or complete disappearance of one or both testes, often associated with cryptorchidism, infertility, and testicular cancer, potentially linked to genetic factors and perinatal trauma 12.Diagnosis
Clinical Presentation: History of maldescended testes, infertility, or testicular cancer 1.
Physical Examination: Absence or markedly reduced testicular volume 2.
Imaging: Ultrasound to assess for testicular remnants or absence 2.
Genetic Testing: Screening for mutations in INSL3 gene in patients with TDS-related symptoms 1.
Histological Analysis: Examination post-surgical exploration to confirm absence or regression 2.Management
Surgical Exploration: Indicated for definitive diagnosis and potential orchiopexy if testicular tissue is found 2.
Hormonal Support: Not specifically addressed in abstracts; consider based on fertility concerns 1.
Psychological Support: Essential for patients and families dealing with infertility and cancer risks 12.Special Populations
Pediatrics: Increased risk of TRS due to susceptibility to perinatal trauma, especially left testes 2.
Pregnancy/Delivery: Close to term deliveries may correlate with higher incidence of TRS due to increased risk of trauma 2.Key Recommendations
Screen for INSL3 gene mutations in patients presenting with symptoms of testicular dysgenesis syndrome, including TRS, to identify potential genetic contributors (Evidence: Moderate) 1.
Consider surgical exploration in cases of suspected TRS to rule out testicular remnants and assess for potential reconstructive options (Evidence: Expert opinion) 2.
Provide psychological support services for patients and families affected by TRS, addressing concerns related to infertility and cancer risk (Evidence: Expert opinion) 12.References
1 Ferlin A, Bogatcheva NV, Gianesello L, Pepe A, Vinanzi C, Agoulnik AI et al.. Insulin-like factor 3 gene mutations in testicular dysgenesis syndrome: clinical and functional characterization. Molecular human reproduction 2006. link
2 Sutcliffe JR, Wilson-Storey D, Smith NM. Ante-natal testicular torsion: only one cause of the testicular regression syndrome?. Journal of the Royal College of Surgeons of Edinburgh 1996. link