Macroorchidism as presenting feature of Fragile X Syndrome

Abstract

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability.1 We report the case of a 6-yearold boy who presented with the complaints of excessive cry and increased testicular volume, during the preceding six months. Physical examination revealed elongated faces, protruding cupped ears and macroorchidism (testicular volume 6-8 mL), anxiety, hyperactivity and attention deficit, clinically suggestive of FXS.

Keywords

• Fragile X syndrome
• Macroorchidism