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XO/XY mosaicism in delayed puberty.

G S Aranoff1, A Morishima

  • 1Department of Pediatrics, College of Physicians and Surgeons, Columbia University, New York, NY 10032.

Journal of Adolescent Health Care : Official Publication of the Society for Adolescent Medicine
|November 1, 1988
PubMed
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XO/XY mosaicism, a chromosomal abnormality, is more common in phenotypic males than previously thought. Early cytogenetic analysis is recommended for boys with pubertal delay and hypospadias to monitor for testicular issues.

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • 45,X/46,XY (XO/XY mosaicism) is a rare chromosomal abnormality.
  • Phenotypic males with this condition often present with delayed puberty and short stature.
  • Previous understanding may underestimate its prevalence in males.

Observation:

  • Two adolescent boys with XO/XY mosaicism presented with pubertal delay and short stature.
  • Both had a history of hypospadias repair with otherwise normal male genitalia and scrotal testes.
  • Pelvic ultrasound revealed no Müllerian structures.

Findings:

  • XO/XY mosaicism may be more prevalent in phenotypic males than previously recognized.
  • The condition is associated with an increased risk of testicular neoplasia.

Related Experiment Videos

  • Early identification is crucial for patient management.

    • Implications:

    • Cytogenetic analysis is recommended for boys presenting with pubertal delay and hypospadias.
    • Diagnosed patients require close monitoring for testicular failure and gonadoblastoma development.
    • This finding highlights the importance of genetic screening in specific pediatric populations.