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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders.

OBJECTIVE: To determine the prevalence of triple X females among patients with premature ovarian failure and to describe the clinical features of the syndrome. DESIGN: Case report. SETTING: Tertiary care hospital. PATIENT(S): Fifty-two consecutive patients with secondary amenorrhea due to premature ovarian failure and no clinical stigmata of Turner's syndrome. MAIN OUTCOME MEASURE(S): Triple X syndrome and clinical features, as assessed by karyotype analysis using Giemsa trypsin banding of metaphase chromosomes. RESULT(S): Two of the 52 patients with premature ovarian failure had triple X syndrome. Both cases had associated autoimmune thyroid disorder. One of the women with triple X syndrome had two pregnancies that were complicated by premature birth, idiopathic thrombocytopenia, neonatal death, and occipital encephalocoele. CONCLUSION(S): Among patients with premature ovarian failure, 3.8% have triple X syndrome. The syndrome may be associated with autoimmune thyroid disorder and poor pregnancy outcome due to congenital malformation.[1]


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