{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T19:49:25Z","timestamp":1773344965155,"version":"3.50.1"},"reference-count":13,"publisher":"ScienceOpen","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>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 &lt;\u22122.8 standard deviation (SD) with weight &lt;\u22123 SD. GH deficiency was isolated and confirmed by two dynamic tests (insulin \u2014 hypoglycemia tolerance test and clonidine) with normal hypothalamic magnetic resonance imaging (MRI). GH supplementation using recombinant GH was advocated, while gonadotropin treatment was deferred.<\/jats:p>\n<jats:p>Small size in children or adolescents should not eliminate the diagnosis of Klinefelter syndrome \u2014 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).<\/jats:p>","DOI":"10.4103\/2041-9414.165531","type":"journal-article","created":{"date-parts":[[2015,9,16]],"date-time":"2015-09-16T05:39:27Z","timestamp":1442381967000},"source":"Crossref","is-referenced-by-count":5,"title":["Exceptional Association Between Klinefelter Syndrome and Growth Hormone Deficiency"],"prefix":"10.14293","volume":"6","author":[{"given":"Sana","family":"Doubi","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism, University Hospital Hassan II, Fez, Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zoubida","family":"Amrani","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, University Hospital Hassan II, Fez, Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanan El","family":"Ouahabi","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, University Hospital Hassan II, Fez, Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sa\u00efd","family":"Boujraf","sequence":"additional","affiliation":[{"name":"Department of Biophysics and Clinical MRI Methods, University of Fez, Fez, Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farida","family":"Ajdi","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, University Hospital Hassan II, Fez, Morocco"},{"name":"Medical Center of Biomedical and Translational Research, University of Fez, Fez, Morocco"},{"name":"Department of Pharmacology, Central Laboratory for Medical Analyses, University of Fez, Fez, Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"5403","published-online":{"date-parts":[[2015,9,16]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1210\/jcem-2-11-615","article-title":"Syndrome characterized by gynecomastia, aspermatogenesis without a leydigism and increased excretion of follicle-stimulating hormone","volume":"2","author":"HF Klinefelter","year":"1942","journal-title":"J Clin Endocrinol"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1038\/ncpuro0775","article-title":"Klinefelter syndrome in clinical practice","volume":"4","author":"A Bojesen","year":"2007","journal-title":"Nat Clin Pract Urol"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/S0140-6736(04)16678-6","article-title":"Klinefelter's syndrome","volume":"364","author":"F Lanfranco","year":"2004","journal-title":"Lancet"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1007\/BF03034316","article-title":"Le syndrome de Klinefelter chez l\u2019enfant","volume":"4","author":"CH Sultan","year":"1994","journal-title":"Andrologie"},{"key":"ref5","first-page":"E","article-title":"Syndrome de Klinefelter","volume":"32","author":"B Bauduceau","year":"2010","journal-title":"EMC Endocr-Nutri"},{"key":"ref6","first-page":"923","article-title":"Small size Klinefelter syndrome","volume":"15","author":"M P\u00e9pin-Donat","year":"2008","journal-title":"Arch Pediat"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1002\/ajmg.1320320110","article-title":"A man with isochromosome Xq Klinefelter syndrome with lack of height increase and normal androgenization","volume":"32","author":"CL Richer","year":"1989","journal-title":"Am J Med Genet"},{"key":"ref8","first-page":"907","article-title":"Fraccaro syndrome: Report of two Iranian cases: An infant and an adult in a family","volume":"51","author":"F Hadipour","year":"2013","journal-title":"Acta Med Iran"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"187","DOI":"10.4274\/jcrpe.1225","article-title":"An unusual combination of Klinefelter syndrome and growth hormone deficiency in a prepubertal child","volume":"6","author":"J Ramesh","year":"2014","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1002\/ajmg.1320490217","article-title":"Short stature in a patient with Klinefelter syndrome and growth hormone deficiency","volume":"49","author":"A Rossodivita","year":"1994","journal-title":"Am J Med Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1007\/s12020-011-9454-5","article-title":"Klinefelter syndrome and short stature: An unusual combination","volume":"39","author":"MP Bah\u00edllo-Curieses","year":"2011","journal-title":"Endocrine"},{"key":"ref12","first-page":"55","article-title":"A patient with Klinefelter's syndrome and growth hormone deficiency","volume":"16","author":"I Be\u00f1-Skowronek","year":"2010","journal-title":"Pediatr Endocrinol Diabetes Metab"},{"key":"ref13","first-page":"50","article-title":"Klinefelter syndrome with partial deficiency of growth hormone","volume":"10","author":"C Tori","year":"1999","journal-title":"Rev Med Hered"}],"container-title":["Genome Integrity"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/scienceopen.com\/document_file\/5cbce6e1-2f29-409e-9b6b-d2cbadfe5c82\/ScienceOpen\/5cbce6e1-2f29-409e-9b6b-d2cbadfe5c82.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/scienceopen.com\/hosted-document?doi=10.4103\/2041-9414.165531","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T11:09:56Z","timestamp":1694776196000},"score":1,"resource":{"primary":{"URL":"https:\/\/scienceopen.com\/hosted-document?doi=10.4103\/2041-9414.165531"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":13,"URL":"https:\/\/doi.org\/10.4103\/2041-9414.165531","relation":{},"ISSN":["2041-9414"],"issn-type":[{"value":"2041-9414","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2015]]},"published":{"date-parts":[[2015]]}}}