47,XXX in an adolescent with premature ovarian failure and autoimmune disease.
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.
Holland
C M
CM
Section of Adolescent Medicine, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
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
D001323:Autoantibodies