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Related Experiment Videos

46,XX male. A case report.

J L Davis1, J Williams

  • 1Department of Obstetrics and Gynecology, University of California at Los Angeles School of Medicine 90048.

The Journal of Reproductive Medicine
|December 1, 1987
PubMed
Summary
This summary is machine-generated.

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A rare 46,XX male condition was diagnosed neonatally, confirmed by second-trimester amniocentesis. This early diagnosis offers new insights into male 46,XX karyotype identification.

Area of Science:

  • Genetics
  • Reproductive Medicine
  • Pediatric Endocrinology

Background:

  • The 46,XX male karyotype, also known as de la Chapelle syndrome, is a rare genetic condition.
  • It occurs in approximately 1 in 9,000 newborn males, typically presenting with male phenotype despite the female chromosomal complement.
  • Diagnosis is frequently delayed until puberty due to the absence of early distinguishing features.

Observation:

  • This report details a case where a 46,XX male was diagnosed during the neonatal period.
  • The diagnosis was supported by prenatal findings from amniocentesis conducted in the second trimester.
  • This represents an unusually early detection for this condition.

Findings:

  • Genetic analysis confirmed the 46,XX karyotype in the neonatal male.

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  • Prenatal karyotyping via amniocentesis accurately identified the condition before birth.
  • The case highlights the possibility of early diagnosis in specific instances.

    • Implications:

    • Early diagnosis of 46,XX males allows for timely intervention and management.
    • Neonatal diagnosis can facilitate comprehensive genetic counseling for families.
    • This case expands the understanding of the diagnostic window for 46,XX male syndrome.