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Related Experiment Videos

46,XX/46,XY chimerism in a phenotypically normal man.

E Schoenle, W Schmid, A Schinzel

    Human Genetics
    |January 1, 1983
    PubMed
    Summary

    Phenotypically normal men with XX/XY chimerism can be misdiagnosed with Klinefelter syndrome. A positive X-chromatin in prepuberty necessitates karyotype analysis to avoid misdiagnosis.

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    Area of Science:

    • Human genetics
    • Reproductive biology
    • Endocrinology

    Background:

    • Dispermic chimeras (46,XX/46,XY) are rare, often presenting with gonadal dysgenesis or true hermaphroditism.
    • Previous cases of XX/XY chimerism were typically identified due to significant clinical abnormalities.

    Observation:

    • A phenotypically normal male initially diagnosed with Klinefelter syndrome based on prepubertal X-chromatin positivity.
    • Re-evaluation at age 23 revealed normal physical characteristics, endocrine parameters, libido, potency, and a normal spermiogram.
    • Karyotype analysis confirmed a 46,XX/46,XY mosaicism in a 1:2 ratio.

    Findings:

    • Maternal genetic markers were identical in both cell lines, while paternal markers showed differences.
    • Blood enzyme groups revealed dual phenotypes, indicating paternal origin duality.

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  • The patient exhibited a mosaic karyotype with both XX and XY cell lines.

    • Implications:

    • Positive X-chromatin in prepuberty, without corroborating clinical signs, warrants karyotype investigation.
    • This case highlights the importance of comprehensive genetic analysis in diagnosing rare conditions like XX/XY chimerism.
    • Accurate diagnosis of XX/XY chimerism is crucial for appropriate patient management and genetic counseling.