Genome Integrity

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

Exceptional association between Klinefelter syndrome and growth hormone deficiency


Sana Doubi1, Zoubida Amrani1, Hanan El Ouahabi1, Sad Boujraf2, Farida Ajdi3 
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:
Sad 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

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 patientSQs 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).


How to cite this article:
Doubi S, Amrani Z, Ouahabi HE, Boujraf S, Ajdi F. Exceptional association between Klinefelter syndrome and growth hormone deficiency.Genome Integr 2015;6:3-3


How to cite this URL:
Doubi S, Amrani Z, Ouahabi HE, Boujraf S, Ajdi F. Exceptional association between Klinefelter syndrome and growth hormone deficiency. Genome Integr [serial online] 2015 [cited 2021 Mar 8 ];6:3-3
Available from: https://www.genome-integrity.org/article.asp?issn=2041-9414;year=2015;volume=6;issue=1;spage=3;epage=3;aulast=Doubi;type=0