Central precocious puberty in 48,XXYY Klinefelter syndrome variant

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

Central precocious puberty in 48,XXYY Klinefelter syndrome variant

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

Fondazione Stella Maris

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	459-465
Number of pages	7
Journal	Journal of Pediatric Endocrinology and Metabolism
Volume	12
Issue number	3
Publication status	Published - 1999

Keywords

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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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.",

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AU - Bertelloni, Silvano

AU - Battini, Roberta

AU - Baroncelli, Giampiero I.

AU - Guerrini, Renzo

AU - Viacava, Paolo

AU - Spinelli, Claudio

AU - Simi, Paolo

PY - 1999

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N2 - 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.

AB - 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.

KW - 48,XXYY Klinefelter syndrome variant

KW - Central precocious puberty

KW - Growth

KW - Testicular biopsy

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