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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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
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author Ramesh, Jayanthy
Nagasatyavani, Mudiganti
Venkateswarlu, Javvadii
Nagender, Jakka
author_facet Ramesh, Jayanthy
Nagasatyavani, Mudiganti
Venkateswarlu, Javvadii
Nagender, Jakka
author_sort Ramesh, Jayanthy
collection PubMed
description 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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spelling pubmed-42936512015-03-27 An Unusual Combination of Klinefelter Syndrome and Growth Hormone Deficiency in a Prepubertal Child Ramesh, Jayanthy Nagasatyavani, Mudiganti Venkateswarlu, Javvadii Nagender, Jakka J Clin Res Pediatr Endocrinol Case Report 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). Galenos Publishing 2014-09 2014-09-05 /pmc/articles/PMC4293651/ /pubmed/25241616 http://dx.doi.org/10.4274/jcrpe.1225 Text en © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Ramesh, Jayanthy
Nagasatyavani, Mudiganti
Venkateswarlu, Javvadii
Nagender, Jakka
An Unusual Combination of Klinefelter Syndrome and Growth Hormone Deficiency in a Prepubertal Child
title An Unusual Combination of Klinefelter Syndrome and Growth Hormone Deficiency in a Prepubertal Child
title_full An Unusual Combination of Klinefelter Syndrome and Growth Hormone Deficiency in a Prepubertal Child
title_fullStr An Unusual Combination of Klinefelter Syndrome and Growth Hormone Deficiency in a Prepubertal Child
title_full_unstemmed An Unusual Combination of Klinefelter Syndrome and Growth Hormone Deficiency in a Prepubertal Child
title_short An Unusual Combination of Klinefelter Syndrome and Growth Hormone Deficiency in a Prepubertal Child
title_sort unusual combination of klinefelter syndrome and growth hormone deficiency in a prepubertal child
topic Case Report
url 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
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