Standardizing terminology and management of testicular developmental disorders: A comprehensive review and...

To establish a unified terminology and management framework for testicular developmental disorders (TDDs) through a comprehensive review of the literature and an international expert consensus. Although these disorders, ranging from testicular agenesis to regression and dysgenesis, are clinically significant, inconsistent terminology has led to confusion in diagnosis and management.

Between January and March 2025, a thorough literature review was conducted across PubMed, Scopus, MEDLINE, and Embase to identify studies addressing the definition, histopathology, and management of testicular remnants, vanishing testis, agenesis, streak dysgenetic gonad, hypoplasia, atrophy, and hypotrophy. Findings were summarized and critically analyzed by an informal international expert panel comprising pediatric urologists, endocrinologists, geneticists and pathologists. The consensus process aimed to standardize definitions and management strategies when high-level evidence was lacking.

Seven distinct entities were identified within the TDD spectrum. Testicular remnants ("nubbins") and vanishing testes were determined to represent different endpoints of the same regression process, with viable germ cells found in 0-16% of remnants and an overall theoretical malignancy risk below 1%. Dysgenetic gonads associated with Y-chromosome material carried a markedly higher risk (30-50%) of gonadoblastoma, for which prophylactic gonadectomy may be advised. Testicular aplasia and hypoplasia were primarily linked to genetic and hormonal causes, while atrophy and hypotrophy were associated with secondary ischemic or acquired processes. Diagnostic laparoscopy remains the gold standard for non-palpable testis evaluation.

This consensus provides a standardized classification and management framework for TDDs, clarifying previously ambiguous terminology. Most entities demonstrate negligible malignant potential, except for dysgenetic gonads containing Y-chromosome material. The proposed framework enhances diagnostic accuracy, facilitates international comparability, and supports individualized, evidence-based management in pediatric urology.