Central precocious puberty in 48,XXYY Klinefelter syndrome variant

Silvano Bertelloni, Roberta Battini, Giampiero I. Baroncelli, Renzo Guerrini, Paolo Viacava, Claudio Spinelli, Paolo Simi

Research output: Contribution to journalArticlepeer-review


We report the first case of central precocious puberty in a patient with 48,XXYY Klinefelter syndrome variant. We also report clinical characteristics, growth pattern, endocrine data and pathological testicular findings. The patient did not receive medical care for his precocious pubertal development, because of adequate height prognosis, and reached normal height for both his target height and Klinefelter patients. Since precocious puberty seems to occur in Klinefelter syndrome and its variants, we advise karyotype analysis in boys with mental retardation, gynecomastia, small testes and precocious onset of puberty.

Original languageEnglish
Pages (from-to)459-465
Number of pages7
JournalJournal of Pediatric Endocrinology and Metabolism
Issue number3
Publication statusPublished - 1999


  • 48,XXYY Klinefelter syndrome variant
  • Central precocious puberty
  • Growth
  • Testicular biopsy

ASJC Scopus subject areas

  • Endocrinology
  • Pediatrics, Perinatology, and Child Health


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