Klinefelter Syndrome in Twins: It Is All in the Family

Abstract

Klinefelter’s Syndrome is a form of male hypogonadism which may present with; either a congenital chromosome abnormality; or alternatively with a mixture of 47XXY/46XY mosaics or higher-grade sex chromosomal aneuploidy as well as structurally abnormal X chromosomes. Clinically, the syndrome is characterized by findings of small, firm testes and symptoms of androgen deficiency but they may also present with azoospermia, tall stature and bilateral painless gynecomastia. This article will describe the presentation, investigation and eventual diagnosis of identical twins with Klinefelter’s Syndrome. Both presented with varying levels of morphological features indicative of Klinefelter’s Syndrome and required further hormonal and genetic investigation. These two cases illustrate the difference in presentation of Klinefelter’s Syndrome and the challenges experienced regularly by clinicians when attempting to treat patients diagnosed with sensitive Syndromes. This is made especially difficult when there are background issues of language barriers and compliance issues.