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Case Studies | Pediatric Specialty | Colombia | Volume 11 Issue 2, February 2022 | Rating: 4.6 / 10
Klinefelter's Syndrome Patient with Micropenis, Bilateral Cryptorchidism and Normal Proportionated Height, A Case Report
Karen Tous-Barrios [2] | Roberto Garcia-Bermejo [3]
Abstract: Klinefelter's Syndrome (KS) is the most frequent observed sex chromosomal anomaly. The classic form of KS is defined by a 47, XXY karyotype; its diagnostic rate is estimated to be only 25%, and less than 3-10% patients are diagnosed before puberty. We present a case report of a patient without previous studies, with a late diagnostic at 11 years-old with KS with micropenis, bilateral cryptorchidism and normal proportionated height. We emphasize the importance of an early diagnosis in order to offer treatment and intervention at the appropriate ages and stages of development for androgenization and minimizing potential metabolic, learning and psychosocial problems.
Keywords: Cryptorchidism, Klinefelter syndrome, Disorders of Sex Development, 47, XXY
Edition: Volume 11 Issue 2, February 2022,
Pages: 130 - 132