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CASE REPORT
Year : 2015  |  Volume : 6  |  Issue : 1  |  Page : 3

Exceptional association between Klinefelter syndrome and growth hormone deficiency


1 Department of Endocrinology and Metabolism, University Hospital Hassan II, Fez, Morocco
2 Department of Biophysics and Clinical MRI Methods, Faculty of Medicine and Pharmacy, University of Fez, BP. 1893, Km 2.200, Sidi Hrazem Road, Fez - 30000, Morocco
3 Department of Endocrinology and Metabolism, University Hospital Hassan II; Medical Center of Biomedical and Translational Research; Department of Pharmacology, Central Laboratory for Medical Analyses, University of Fez, Fez, Morocco

Correspondence Address:
Saïd Boujraf
Department of Biophysics and Clinical MRI Methods, Faculty of Medicine and Pharmacy, University of Fez, BP. 1893, Km 2.200, Sidi Hrazem Road, Fez - 30000
Morocco
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2041-9414.165531

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Klinefelter syndrome (KS) is characterized in adults by the combination of a tall stature, small testes, gynecomastia, and azoospermia. This case is described in a North African population of the Mediterranean region of North Africa. We report the case of a male 16 years old, of Arab ethnic origin, and diagnosed with this syndrome, who had a small height in relation to a growth hormone (GH) deficiency and a history of absence seizures (generalized myoclonic epilepsy). The patient's size was <−2.8 standard deviation (SD) with weight <−3 SD. GH deficiency was isolated and confirmed by two dynamic tests (insulin - hypoglycemia tolerance test and clonidine) with normal hypothalamic magnetic resonance imaging (MRI). GH supplementation using recombinant GH was advocated, while gonadotropin treatment was deferred. Small size in children or adolescents should not eliminate the diagnosis of Klinefelter syndrome - on the contrary, the presence of any associated sign (brain maturation, delay in puberty, aggressiveness) should encourage one to request a karyotype for the diagnosis and appropriate care of any case of KS that can be associated with GH deficiency, or which is in a variant form (isochromosome Xq, 49,XXXXY).


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