Testicular torsion in an adolescent with Fragile X Syndrome

Fragile X syndrome (FraX) is the most common hereditary form of mental retardation. The clinical syndrome includes mental retardation, macroorchidism, and typical but variable facial features. Although macroorchidism has been recognized as a cardinal feature of FraX, descriptions of testicular pathology are rare. Testicular torsion is a relatively common surgical emergency in young men, peaking at the onset of puberty when the testes undergo a period of rapid growth. However, testicular torsion has never been associated with macroorchidism. We report the first known case of testicular torsion in a 14-year-old boy with FraX and macroorchidism. Although we are unable to establish a definitive relationship between macroorchidism and testicular torsion in an isolated case report, primary care takers of children with macroorchidism should be aware of this occurrence. We recommend measurement of testicular volume during annual evaluations of children and adolescents with macroorchidism. Acute scrotal pain or increased testicular volume should be promptly evaluated.