[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 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.


CONCLUSIONS
according to our retrospective data we can assert that KS in paediatric age is characterized by a stature taller than target
Dipartimento di Scienze Pediatriche Mediche e Chirurgiche, Università di Messina, Messina, Italia. francesca.messina@unime.it
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MF
Messina
D
D
Corica
S
S
Santucci
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E
Pitrolo
M
M
Romeo
F
F
De Luca
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D006128:Growth; D006801:Humans; D007231:Infant, Newborn; D007713:Klinefelter Syndrome / Q000175:diagnosis* / Q000503:physiopathology; D008297:Male; D012189:Retrospective Studies