ABSTRACT. 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. ragile X syndrome (FraX) affects 1 in 1250 to 1 in 4000 individuals, making it the most common cause of inherited mental retardation. Although macroorchidism has been recognized as a cardinal characteristic of men with FraX for over 25 years, descriptions of associated symptoms or testicular pathology are rare. 1,2 A relatively common surgical emergency in young males, testicular torsion occurs most commonly at puberty with a calculated annual incidence of 1 in 4000 males under 25 years of age. 3,4 However, a literature search failed to locate any previous reports of testicular torsion in association with FraX and macroorchidism. We describe a case of testicular torsion in a 14-year-old pubertal boy with FraX and macroorchidism who presented with 48 hours of mild left groin and testicular pain with asymmetrical testicular enlargement. Physical examination and color Doppler ultrasound findings were consistent with testicular torsion. Scrotal exploration and manual detorsion were performed; however, the testis was nonviable and therefore removed.
CASE REPORTA 14-year-old male with a history of fragile X mosaicism with moderate mental retardation (Wechsler Intelligence Scale for Children-III Full Scale IQ 48) and bilateral macroorchidism presented with 48 hours of mild, vague left groin and testicular pain unrelated to exertion. The pain had awoken him the night before evaluation. He denied masturbation, sexual activity, voiding abnormalities, gastrointestinal symptoms, and genitourinary and abdominal trauma. His medical history was unremarkable for previous testicular pain, immunosupression, malignancy, diabetes mellitus, urinary tract infection, or manipulation. FraX had been diagnosed in the patient and his younger brother 7 years earlier based on the brother's more classic symptoms of developmental delay, autistic features, and typical facial appearance. Our patient had no significant behavioral problems. The majority of the DNA molecules isolat...