C M Holland1. 1. Section of Adolescent Medicine, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Abstract
BACKGROUND: Premature ovarian failure (POF) may be idiopathic or may be associated with genetic or autoimmune disorders. The 47,XXX karyotype has been associated with POF and other genitourinary anomalies. CASE: A 17-year-old woman with a history of immune thrombocytopenic purpura was referred to the adolescent medicine clinic for evaluation of oligomenorrhea with secondary amenorrhea. Evaluation revealed hypergonadotrophic premature ovarian failure, a positive antinuclear antibody, and the 47,XXX karyotype. She has since developed a positive anti-cardiolipin antibody but does not meet diagnostic criteria for systemic lupus erythematosis. CONCLUSION: The presence of known autoimmune disease in a woman with POF should not dissuade the clinician from evaluating for a potential genetic cause.
BACKGROUND:Premature ovarian failure (POF) may be idiopathic or may be associated with genetic or autoimmune disorders. The 47,XXX karyotype has been associated with POF and other genitourinary anomalies. CASE: A 17-year-old woman with a history of immune thrombocytopenic purpura was referred to the adolescent medicine clinic for evaluation of oligomenorrhea with secondary amenorrhea. Evaluation revealed hypergonadotrophic premature ovarian failure, a positive antinuclear antibody, and the 47,XXX karyotype. She has since developed a positive anti-cardiolipin antibody but does not meet diagnostic criteria for systemic lupus erythematosis. CONCLUSION: The presence of known autoimmune disease in a woman with POF should not dissuade the clinician from evaluating for a potential genetic cause.
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
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