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

J. Ramesh | Zendy; Mudiganti Nagasatyavani | Zendy; Javvadii Venkateswarlu | Zendy; Jakka Nagender | Zendy

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

Author(s) -

J. Ramesh,

Mudiganti Nagasatyavani,

Javvadii Venkateswarlu,

Jakka Nagender

Publication year - 2014

Publication title -

journal of clinical research in pediatric endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.566

H-Index - 35

eISSN - 1308-5735

pISSN - 1308-5727

DOI - 10.4274/jcrpe.1225

Subject(s) - short stature , medicine , klinefelter syndrome , growth hormone deficiency , aneuploidy , pediatrics , bone age , tall stature , growth hormone , endocrinology , turner syndrome , delayed puberty , chromosomal abnormality , karyotype , hormone , genetics , chromosome , biology , gene

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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