An Unusual Combination of Klinefelter Syndrome and Growth Hormone Deficiency in a Prepubertal Child

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 gr...

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Detalles Bibliográficos
Autores principales: Ramesh, Jayanthy, Nagasatyavani, Mudiganti, Venkateswarlu, Javvadii, Nagender, Jakka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4293651/
https://www.ncbi.nlm.nih.gov/pubmed/25241616
http://dx.doi.org/10.4274/jcrpe.1225
Descripción
Sumario: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).

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