Bahadır BAKIM, Ersin TÜRKYILMAZ, Oğuz KARAMUSTAFAOĞLU, Onur TANKAYA, Burcu YAVUZ GÖKSAN

Kallmann sendromu ve şizofreni eştanısı: Bir olgu sunumu

Kallmannn Sendromu (KS), anozmi veya hipozminin eşlik ettiği, hipogonadotropik hipoganodizm ile karakterize kalıtsal bir hastalıktır. Ek olarak, bu hastalarda iskelet sistemi anormallikleri, anormal göz hareketleri, konjenital pitoz, duyma kusuru, korpus kallosum agenezi, renal agenez, bir veya birden çok dişin agenezi görülebilir. Yazında, KS ve şizofreni birlikteliği ile ilgili sadece bir olgu bildirimi mevcuttur. KS ve şizofreni ortak gen çalışmaları da bulunmaktadır. Bu olgu bildiriminde, şizofreni tanısı ile takip edilen Kallmann sendromlu bir erkek hasta sunulmuş ve yazın bilgileri ışığında tartışılmıştır.

Comorbidity of schizophrenia and Kallmann’s Syndrome: a case report

Kallmann’s Syndrome (KS) is a genetic disorder characterized by hypogonadotropic hypogonadism accompanied by anosmia or hyposmia. In addition, various abnormalities may be seen including anomalies in skeletal system, abnormal eye movements, congenital ptosis, impairment in hearing, agenesis of corpus callosum and of kidneys and of one or more teeth. There is only one case report in the literature considering the comorbidity of KS and schizophrenia. Studies of shared genes by both disorders were also reported. In this case report, a male patient with schizophrenia and KS is presented and discussed in the light of the literature.+

PDF

___

1. Maestre de San Juan A. Falta total de los nervios olfactorios con anosmı´a en un individuo en quien existı´a una atrofı´a conge´nita de los testı´culos y miembro viril. Siglo Medico 1856; 131:211.
2. Kallmannn FJ, Schoenfeld WA, Barrera SE. The genetic aspects of primary eunuchoidism. Am J Ment Defic 1944; 158:203-236.
3. Waldstreicher J, Seminara SB, Jameson JL, Geyer A, Nachtigall LB, Boepple PA, Holmes LB, Crowley Jr WF. The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human. J Clin Endocrinol Metab 1996; 81:4388-4395.
4. Dode C, Hardelin JP. Kallmann Syndrome. Eur J Hum Genet 2009; 17:139-146.
5. Kirk J, Grant D, Besser GM, Shalet S, Quinton R, Smith CS, White M, Edwards O, Bouloux P-M G. Unilateral renal aplasia in X-linked Kallmann’s Syndrome. Clin Genet 1994; 46:260–262.
6. Seminara SB, Hayes FJ, Crowley WF Jr. Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmannn’s Syndrome): pathophysiological and genetic considerations. Endocr Rev 1998; 6. 19:521-539.
7. Doraiswamy PM, Potts JM, Axelson DA, Husain MM, Lurie SN, Na C, Escalona PR, McDonald WM, Figiel GS, Ellinwood EH Jr. MR assessment of pituitary gland morphology in healthy volunteers: age and gender-related differences. Am J Neuroradiol 1992; 13:1295-1299.
8. de Roux N. GnRH resistance and the gene GPR54. Rev Prat 2005; Spec. No:16-9.
9. Pitteloud N, Meysing A, Quinton R, Acierno JS Jr, Dwyer AA, Plummer L, Fliers E, Boepple P, Hayes F, Seminara S, Hughes VA, Ma J, Bouloux P, Mohammadi M, Crowley WF Jr. Mutations in fibroblast growth factor receptor 1 cause Kallmannn Syndrome with a wide spectrum of reproductive phenotypes. Mol Cell Endocrinol 2006; 254-255:60-69.
10. Vagenakis GA, Hyphantis TN, Papageorgiou C, Protonatariou A, Sgourou A, Dimopoulos PA, Mavreas V, Vagenakis AG, Georgopoulos NA. Kallmannn’s Syndrome and schizophrenia. Int J Psychiatry Med 2004; 34:379-390.
11. Rupp CI. Olfactory function and schizophrenia: an update. Curr Opin Psychiatry 2010; 23:97-102.