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Seizures, renal and genitourinary abnormalities, and premature ovarian failure POF can also be associated findings. It was first described in in a year-old woman with normal intellectual abilities who presented with secondary amenorrhea at 19 years of age [ 1 ]. The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly. There is considerable variation in the phenotype, with some individuals very mildly affected and others with more significant physical and psychological features.

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Patients should be referred to support organizations to receive individual and family support. It is the most common female chromosomal abnormality, occurring in approximately 1 in 1, female births. Adolescents and adult women presenting with late menarche, menstrual irregularities, or fertility problems should be evaluated for POF.


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