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Case Reports
. 2012 Nov;6(9):1544-6.
doi: 10.7860/JCDR/2012/4331.2555.

A Rare Presentation of the Klinefelter's Syndrome

Sharabeh Hezarkhani  1 , Mohammad Moujerloo, Sima Sedighi, Negar Sadat Taheri
Affiliations
Case Reports

A Rare Presentation of the Klinefelter's Syndrome

Sharabeh Hezarkhani et al. J Clin Diagn Res. 2012 Nov.

Abstract

A 16 years old boy with Chronic Renal Failure (CRF) was not suspected of having Klinefelter's syndrome until he complained of painful gynecomastia. He was under haemodialysis for 2 years. At first, he was in an approximately full pubertal development (P5, G5), but he had a small and a firm testis (length 2.2cm) and some degree of facial male pattern hair. He also had a decreased upper to lower body segment ratio and despite having chronic renal failure, he was taller than his parents and siblings. His laboratory tests showed high levels of FSH and normal levels of LH and testosterone. With regards to all these findings, we suspected that there might be an occult Klinefelter's syndrome. So, we made his karyotype that showed a 47XXY pattern. Because there are only a few number of cases that have occult Klinefelter's syndrome in the basis of chronic renal failure, we decided to report this case.

Keywords: CRF; Haemodialysis; Occult klinefelter.

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Figures

[Table/Fig-1]
[Table/Fig-1]
Gynecomastia and facial male pattern
[Table/Fig-2]
[Table/Fig-2]
Kariotype of the patients indicate klinefelter syndrome
See this image and copyright information in PMC

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