A Witek1, P Skałba, M Zieba. 1. Department of Gynaecological Endocrinology, Silesian Medical University, Katowice, Poland.
Abstract
BACKGROUND: The 47,XXX karyotype is a rare sex chromosome anomaly. This karyotype is usually not associated with a characteristic physical phenotype. CASE REPORT: 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.
BACKGROUND: The 47,XXX karyotype is a rare sex chromosome anomaly. This karyotype is usually not associated with a characteristic physical phenotype. CASE REPORT: 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.
Authors: Anthony J Swerdlow; Minouk J Schoemaker; Craig D Higgins; Alan F Wright; Patricia A Jacobs Journal: Hum Genet Date: 2005-11-15 Impact factor: 4.132