Klinefelter’s Syndrome Associated with Unilateral Cryptorchidism in Childhood

Abstract

We report a case of Klinefelter’s syndrome in a 3-year-old boy with unilateral cryptorchidism. The literature is reviewed, and hormonal condition and treatment of Klinefelter’s syndrome are discussed.

Testosterone and the child (0–12 years) with Klinefelter syndrome (47XXY): a review

“…Descriptive studies of boys with KS consistently document an increased frequency of cryptorchidism ranging from 4.5% to 68.75% of referrals (Table 1) (12–16). Among cryptorchid boys, however, KS represented only 1.3% of cases (6).…”

Perspectives in Pediatric Pathology, Chapter 14. Natural History of Undescended Testes

“…Although cryptorchidism usually appears as an isolated anomaly, it is often associated with congenital endocrine or chromosomal disorders and disorders of sexual development [118,119]. Cryptorchidism has been reported in patients with GnRH deficit and Maestre de San Juan syndrome (commonly referred to as Kallmann syndrome).…”