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Testicular Regression Syndrome: a case report.

Christiana de Freitas Vinhas1, Aloísio Felipe-Silva2, Ricardo Frank Coelho da Rocha3

  • 1Department of Pathology - Faculdade de Medicina - Universidade de São Paulo, São Paulo/SP - Brazil.

Autopsy & Case Reports
|September 19, 2019
PubMed
Summary

Testicular Regression Syndrome (TRS) is a condition where testes are absent or underdeveloped in 46XY individuals. Histological analysis confirmed TRS in a 7-year-old boy initially diagnosed with cryptorchidism.

Keywords:
BiopsyCryptorchidismGonadal dysgenesis, 46, XYOrchiopexyTestis

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Area of Science:

  • Pediatric Endocrinology
  • Developmental Biology
  • Surgical Pathology

Background:

  • Testicular Regression Syndrome (TRS) affects 46XY individuals with normal external genitalia, presenting as absent or incompletely developed testes.
  • TRS prevalence is estimated between 3-20% in cases initially diagnosed as cryptorchidism.

Observation:

  • A 7-year-old boy presented with a clinical diagnosis of cryptorchidism, necessitating surgical exploration.
  • During surgery, no identifiable testicular structure was found, and presumed testicular remnants were collected for analysis.

Findings:

  • Histological examination of the presumed remnants revealed a fibrovascular nodule, spermatic cord structures, and calcification.
  • These histological findings definitively supported a diagnosis of Testicular Regression Syndrome.

Implications:

  • This case highlights the importance of histological analysis in differentiating TRS from other conditions presenting as cryptorchidism.
  • Accurate diagnosis of TRS is crucial for appropriate patient management and genetic counseling.