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XX males: two new cases.

E Yunis, E D De La Cruz, M A Nossa

    Clinical Genetics
    |May 1, 1975
    PubMed
    Summary
    This summary is machine-generated.

    Two males with a 46,XX karyotype were studied. Evidence suggests the mutation theory may explain this rare XX male syndrome, challenging typical Y chromosome association with male development.

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    Area of Science:

    • Genetics
    • Human Biology
    • Reproductive Medicine

    Background:

    • Phenotypic males typically possess a Y chromosome.
    • The 46,XX karyotype is usually associated with female development.
    • XX male syndrome presents a rare exception to typical sex determination.

    Purpose of the Study:

    • To present two new cases of phenotypic males with a 46,XX karyotype.
    • To investigate the genetic basis of the XX male phenotype in these individuals.
    • To explore the potential role of mutation theory in explaining this condition.

    Main Methods:

    • Karyotyping to determine chromosome complement.
    • Fluorescence in situ hybridization (FISH) and autoradiography to detect Y chromosome material.
    • Centromeric heterochromatin studies.

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  • Xg blood group typing and family studies.

    • Main Results:

    • No evidence of Y chromosome or translocated Yq material was found in either patient.
    • Genetic studies in one patient and his family demonstrated X chromosome transmission from father to son.
    • Indirect evidence supports the mutation theory as a potential cause for the XX male phenotype.

    Conclusions:

    • The absence of Y chromosome material in these XX male cases is confirmed.
    • X chromosome inheritance patterns provide insights into genetic transmission.
    • The mutation theory is supported as a plausible explanation for XX male syndrome, highlighting genetic factors beyond the Y chromosome.