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Unusual presentation of Klinefelter syndrome

INTRODUCTION: Klinefelter syndrome usually presents in the puberty and adulthood with its characteristic features. We report a boy who had Klinefelter syndrome with hypospadias and hydrocele. CASE NOTE: Six and half year old boy had complaints of genitourinary problem in the form of hypospadias, sma...

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Detalles Bibliográficos
Autores principales: Das, Chanchal, Sahana, Pranab Kumar, Sengupta, Nilanjan, Roy, Mukut, Dasgupta, Ranen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4046601/
https://www.ncbi.nlm.nih.gov/pubmed/24910838
http://dx.doi.org/10.4103/2230-8210.123567
Descripción
Sumario:INTRODUCTION: Klinefelter syndrome usually presents in the puberty and adulthood with its characteristic features. We report a boy who had Klinefelter syndrome with hypospadias and hydrocele. CASE NOTE: Six and half year old boy had complaints of genitourinary problem in the form of hypospadias, small phallus and hydrocele. Karyotyping showed 47,XXY. CONCLUSION: This case illustrates that Klinefelter syndrome was presented in the infancy with hypospadias and hydrocele which are very uncommon presentation of the disease