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An unusual combination of Klinefelter syndrome and growth hormone deficiency in a prepubertal child.
J Clin Res Pediatr Endocrinol
; 6(3): 187-9, 2014 Sep.
Article
in English
| MEDLINE
| ID: mdl-25241616
ABSTRACT
Klinefelter syndrome (KS) is the most common chromosomal aneuploidy in males. It is very difficult to diagnose this disorder in childhood due to absence of significant manifestations before puberty. These patients usually present with tall stature. We report a case of KS with short stature due to growth hormone deficiency. The boy's height was below the 3rd centile with significant delay in bone age. He responded well to growth hormone injections. In view of mental subnormality karyotyping was done, which revealed KS (47XXY).