title: 47,XXX in an adolescent with premature ovarian failure and autoimmune disease.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  The presence of known autoimmune disease in a woman with POF should not dissuade the clinician from evaluating for a potential genetic cause.
authors.affiliation: Section of Adolescent Medicine, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
authors.forename: C M
authors.initials: CM
authors.lastname: Holland
mesh_terms: D000293:Adolescent; D001323:Autoantibodies / Q000097:blood; D001327:Autoimmune Diseases / Q000150:complications / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007621:Karyotyping; D008599:Menstruation Disturbances / Q000209:etiology*; D016649:Primary Ovarian Insufficiency / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D011696:Purpura, Thrombocytopenic / Q000209:etiology*; D012729:Sex Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D014960:X Chromosome
chemical_list: D001323:Autoantibodies