Klinefelter syndrome: clinical and auxological features of 14 patients diagnosed in childhood
Klinefelter syndrome (KS) is the most frequent chromosomal aneuploidy with a prevalence of 1: 500 men but it often remains a largely undiagnosed condition and only 10% of cases are identified in childhood and adolescence. We report the anamnestic, clinical and auxological findings of 14 KS patients...
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doaj-e5af015514ff4ceeb7e3bc61c05e6ef42020-11-24T23:31:24ZengPAGEPress PublicationsLa Pediatria Medica e Chirurgica0391-53872420-77482013-08-0135410.4081/pmc.2013.3939Klinefelter syndrome: clinical and auxological features of 14 patients diagnosed in childhoodM.F. Messina0D. Corica1S. Santucci2E. Pitrolo3M. Romeo4F. De Luca5Dipartimento di Scienze Pediatriche Mediche e Chirurgiche, Università di Messina, MessinaDipartimento di Scienze Pediatriche Mediche e Chirurgiche, Università di Messina, MessinaDipartimento di Scienze Pediatriche Mediche e Chirurgiche, Università di Messina, MessinaDipartimento di Scienze Pediatriche Mediche e Chirurgiche, Università di Messina, MessinaDipartimento di Scienze Pediatriche Mediche e Chirurgiche, Università di Messina, MessinaDipartimento di Scienze Pediatriche Mediche e Chirurgiche, Università di Messina, MessinaKlinefelter syndrome (KS) is the most frequent chromosomal aneuploidy with a prevalence of 1: 500 men but it often remains a largely undiagnosed condition and only 10% of cases are identified in childhood and adolescence. We report the anamnestic, clinical and auxological findings of 14 KS patients diagnosed in paediatric age. 3/14 patients (21%) with KS were diagnosed in prenatal age by amniocentesis, 1 patient was diagnosed at birth due to genital ambiguity and the remaining 10/14 (71.4%) were diagnosed at a chronological age younger than 15 years old for a clinical picture characterized by a peculiar cognitive and behavioral pattern or genital anomalies and abnormalities of pubertal development. The classical karyotype 47 XXY was present in 10/14 subjects (72%), a mosaic form (46 XY/47 XXY) was present in 2/14 (14%) and a complex aneuploidy (48 XXYY and 48 XXXY) was present in the remaining 2/14 (14%) patients. All KS patients diagnosed in childhood and adolescence (10/14 =71.4 %) showed a stature taller than the respective target height and also the predicted final height (calculated from a chronological age older than 7 years old) and the reached final height were significantly taller than target height. Conclusion: according to our retrospective data we can assert that KS in paediatric age is characterized by a stature taller than target height, often associated with a characteristic cognitive and behavioral pattern while the typical clinical signs and symptoms of KS are lacking and manifest only in late adolescence or adulthood.http://www.pediatrmedchir.org/index.php/pmc/article/view/39Klinefelter syndromehypergonadotropic hypogonadismneurocognitive profilespeech disordersbehavioral disorderslearning disabilities |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
M.F. Messina D. Corica S. Santucci E. Pitrolo M. Romeo F. De Luca |
spellingShingle |
M.F. Messina D. Corica S. Santucci E. Pitrolo M. Romeo F. De Luca Klinefelter syndrome: clinical and auxological features of 14 patients diagnosed in childhood La Pediatria Medica e Chirurgica Klinefelter syndrome hypergonadotropic hypogonadism neurocognitive profile speech disorders behavioral disorders learning disabilities |
author_facet |
M.F. Messina D. Corica S. Santucci E. Pitrolo M. Romeo F. De Luca |
author_sort |
M.F. Messina |
title |
Klinefelter syndrome: clinical and auxological features of 14 patients diagnosed in childhood |
title_short |
Klinefelter syndrome: clinical and auxological features of 14 patients diagnosed in childhood |
title_full |
Klinefelter syndrome: clinical and auxological features of 14 patients diagnosed in childhood |
title_fullStr |
Klinefelter syndrome: clinical and auxological features of 14 patients diagnosed in childhood |
title_full_unstemmed |
Klinefelter syndrome: clinical and auxological features of 14 patients diagnosed in childhood |
title_sort |
klinefelter syndrome: clinical and auxological features of 14 patients diagnosed in childhood |
publisher |
PAGEPress Publications |
series |
La Pediatria Medica e Chirurgica |
issn |
0391-5387 2420-7748 |
publishDate |
2013-08-01 |
description |
Klinefelter syndrome (KS) is the most frequent chromosomal aneuploidy with a prevalence of 1: 500 men but it often remains a largely undiagnosed condition and only 10% of cases are identified in childhood and adolescence. We report the anamnestic, clinical and auxological findings of 14 KS patients diagnosed in paediatric age. 3/14 patients (21%) with KS were diagnosed in prenatal age by amniocentesis, 1 patient was diagnosed at birth due to genital ambiguity and the remaining 10/14 (71.4%) were diagnosed at a chronological age younger than 15 years old for a clinical picture characterized by a peculiar cognitive and behavioral pattern or genital anomalies and abnormalities of pubertal development. The classical karyotype 47 XXY was present in 10/14 subjects (72%), a mosaic form (46 XY/47 XXY) was present in 2/14 (14%) and a complex aneuploidy (48 XXYY and 48 XXXY) was present in the remaining 2/14 (14%) patients. All KS patients diagnosed in childhood and adolescence (10/14 =71.4 %) showed a stature taller than the respective target height and also the predicted final height (calculated from a chronological age older than 7 years old) and the reached final height were significantly taller than target height. Conclusion: according to our retrospective data we can assert that KS in paediatric age is characterized by a stature taller than target height, often associated with a characteristic cognitive and behavioral pattern while the typical clinical signs and symptoms of KS are lacking and manifest only in late adolescence or adulthood. |
topic |
Klinefelter syndrome hypergonadotropic hypogonadism neurocognitive profile speech disorders behavioral disorders learning disabilities |
url |
http://www.pediatrmedchir.org/index.php/pmc/article/view/39 |
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