Klinefelter syndrome: clinical and auxological features of 14 patients diagnosed in childhood

M.F. Messina, D. Corica, S. Santucci, E. Pitrolo, M. Romeo, F. De Luca
  • M.F. Messina
    Dipartimento di Scienze Pediatriche Mediche e Chirurgiche, Università di Messina, Messina, Italy | francesca.messina@unime.it
  • D. Corica
    Dipartimento di Scienze Pediatriche Mediche e Chirurgiche, Università di Messina, Messina, Italy
  • S. Santucci
    Dipartimento di Scienze Pediatriche Mediche e Chirurgiche, Università di Messina, Messina, Italy
  • E. Pitrolo
    Dipartimento di Scienze Pediatriche Mediche e Chirurgiche, Università di Messina, Messina, Italy
  • M. Romeo
    Dipartimento di Scienze Pediatriche Mediche e Chirurgiche, Università di Messina, Messina, Italy
  • F. De Luca
    Dipartimento di Scienze Pediatriche Mediche e Chirurgiche, Università di Messina, Messina, Italy

Abstract

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.

Keywords

Klinefelter syndrome, hypergonadotropic hypogonadism, neurocognitive profile, speech disorders, behavioral disorders, learning disabilities

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Submitted: 2014-11-17 16:21:38
Published: 2013-08-31 00:00:00
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Copyright (c) 2013 M.F. Messina, D. Corica, S. Santucci, E. Pitrolo, M. Romeo, F. De Luca

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