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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
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Bilateral undescended testes (BUDT) are often linked to underlying conditions affecting sex development. Routine endocrine and genetic evaluations are crucial for managing these cases.

Keywords:
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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.