Pituitary tumor in a woman with a 47,XXX karyotype--case report.
BACKGROUND
The 47,XXX karyotype is a rare sex chromosome anomaly. This karyotype is usually not associated with a characteristic physical phenotype.


METHODS
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.


CONCLUSIONS
The case described should attract attention to how difficult it is to diagnose properly a genetic disease in young women with correct phenotype.
Department of Gynaecological Endocrinology, Silesian Medical University, Katowice, Poland.
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Witek
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Skałba
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Zieba
D000328:Adult; D005260:Female; D012739:Gonadal Steroid Hormones / Q000097:blood; D006801:Humans; D007621:Karyotyping; D010053:Ovary / Q000473:pathology; D010907:Pituitary Hormones / Q000097:blood; D010911:Pituitary Neoplasms / Q000235:genetics* / Q000473:pathology; D012729:Sex Chromosome Aberrations; D014960:X Chromosome
D012739:Gonadal Steroid Hormones; D010907:Pituitary Hormones