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Gonadal Function in Boys with Bilateral Undescended Testes
Angela K Lucas-Herald1, Khalid I Alkanhal1,2, Emma Caney1
1Developmental Endocrinology Research Group, University of Glasgow, Royal Hospital for Children, Glasgow G51 4TF, UK.
Journal of the Endocrine Society
|January 11, 2024
Summary
Bilateral undescended testes (BUDT) are often linked to underlying conditions affecting sex development. Routine endocrine and genetic evaluations are crucial for managing these cases.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Developmental Biology
Background:
- Bilateral undescended testes (BUDT) can indicate underlying issues with sex development or maturation.
- Early identification and management are essential for optimal outcomes.
Purpose of the Study:
- To assess the prevalence of gonadal dysfunction in boys with BUDT.
- To determine the extent of endocrine and genetic abnormalities in these patients.
Main Methods:
- Retrospective review of boys with BUDT undergoing endocrine evaluation (2008-2021).
- Statistical analysis including Mann-Whitney U, Fisher's exact test, and logistic regression.
- P < .05 considered statistically significant.
Main Results:
- Of 130 boys evaluated, 55% had extragenital anomalies and 25% had additional genital features.
- Genetic abnormalities were found in 54% of tested boys, with chromosomal variants being most common.
- Endocrine dysfunction was identified in 38% of tested boys.
Conclusions:
- Genetic findings and gonadal dysfunction are frequent in boys with BUDT.
- Comprehensive endocrine and genetic evaluation should be standard care for all BUDT cases.
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