title: Central precocious puberty in 48,XXYY Klinefelter syndrome variant.
abstract: 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.
authors.affiliation: Department of Reproductive Medicine and Pediatrics, University of Pisa, Santa Chiara Hospital, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Bertelloni
authors.forename: R
authors.initials: R
authors.lastname: Battini
authors.forename: G I
authors.initials: GI
authors.lastname: Baroncelli
authors.forename: R
authors.initials: R
authors.lastname: Guerrini
authors.forename: P
authors.initials: P
authors.lastname: Viacava
authors.forename: C
authors.initials: C
authors.lastname: Spinelli
authors.forename: P
authors.initials: P
authors.lastname: Simi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D001827:Body Height; D001846:Bone Development / Q000502:physiology; D002648:Child; D005260:Female; D012739:Gonadal Steroid Hormones / Q000097:blood; D007987:Gonadotropin-Releasing Hormone / Q000097:blood; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000097:blood / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D011629:Puberty, Precocious / Q000097:blood / Q000000981:diagnostic imaging / Q000235:genetics*; D013737:Testis / Q000473:pathology; D014463:Ultrasonography
chemical_list: D012739:Gonadal Steroid Hormones; D007987:Gonadotropin-Releasing Hormone