Med Sci Monit 2001; 7(2): CS304-307 :: ID: 421144
BACKGROUND: The 47,XXX karyotype is a rare sex chromosome anomaly. Thiskaryotype is usually not associated with a characteristic physical phenotype.
CASE REPORT: In presentedcase a 47 triple X women with pituitary tumor and premature ovarian failure is identified. Diagnosisof a 47,XXX individual remains difficult because specific clinical criteria used to identify this conditionare not available.
CONCLUSIONS: The case described should attract attention to how difficult it is todiagnose properly a genetic disease in young women with correct phenotype.
Keywords: karyotype 47,XXX, pituitary tumor, Diagnosis
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