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.
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.
Authors: Kristen Wigby; Cheryl D'Epagnier; Susan Howell; Amy Reicks; Rebecca Wilson; Lisa Cordeiro; Nicole Tartaglia Journal: Am J Med Genet A Date: 2016-09-19 Impact factor: 2.802
Authors: Nicole Tartaglia; Susan Howell; Shanlee Davis; Karen Kowal; Tanea Tanda; Mariah Brown; Cristina Boada; Amanda Alston; Leah Crawford; Talia Thompson; Sophie van Rijn; Rebecca Wilson; Jennifer Janusz; Judith Ross Journal: Am J Med Genet C Semin Med Genet Date: 2020-06-07 Impact factor: 3.908