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Updated: Aug 17, 2026

Fertility Preservation in Patients with Severe Ovarian Dysfunction
Published on: March 25, 2021
47,XXX in an adolescent with premature ovarian failure and autoimmune disease
1Section of Adolescent Medicine, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
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.
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