Secondary amenorrhea associated with balanced X-autosome translocation

Abstract

This is the first reported instance of a patient with gonadal dysgenesis that involves translocation of part of the long arm of an X chromosome to the short arm of a number 7 autosome. The importance of considering gonadal dysgenesis early in the evaluation of patients with secondary amenorrhea considered for ovulation induction is stressed. The relation between chromosomal rearrangement, phenotypic expression, and clinical presentation is discussed.