Pituitary tumor in a woman with a 47,XXX karyotype--case report

The 47,XXX karyotype is a rare sex chromosome anomaly. This karyotype is usually not associated with a characteristic physical phenotype.

In presented case a 47 triple X women with pituitary tumor and premature ovarian failure is identified. Diagnosis of a 47,XXX individual remains difficult because specific clinical criteria used to identify this condition are not available.

The case described should attract attention to how difficult it is to diagnose properly a genetic disease in young women with correct phenotype.