Computed tomography of the anterior skull base in kallmann syndrome reveals specific ethmoid bone abnormalities associated with olfactory bulb defects

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 3, 2013, Pages

  Maione, Luigi ^a,b,e,g   Benadjaoud, Samir ^c   Eloit, Corinne ^d   Sinisi, Antonio A ^f   Colao, Annamaria ^g   Chanson, Philippe ^a,b,e   Ducreux, Denis ^a,c   Benoudiba, Farida ^c   Young, Jacques ^a,b,e  

^a UNIVERSITÉ PARIS SACLAY   (France)

^b BICÊTRE HOSPITAL   (France)

^c Service de Neuroradiologie   (France)

^d HÔPITAL LARIBOISIÈRE   (France)

^e Institut National de la Santéet de la Recherche Médicale U693   (France)

^f SECOND UNIVERSITY OF NAPLES   (Italy)

^g UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BODY SURFACE; CONTROLLED STUDY; CRIBRIFORM PLATE; DISEASE ASSOCIATION; ETHMOID BONE; FEMALE; GENE; HEIGHT; HIGH RESOLUTION COMPUTER TOMOGRAPHY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMAGE RECONSTRUCTION; INTERMETHOD COMPARISON; KAL1 GENE; KALLMANN SYNDROME; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; OLFACTORY BULB DEFECT; OLFACTORY FOSSA; PRIORITY JOURNAL; PROSPECTIVE STUDY; SENSITIVITY AND SPECIFICITY; SKULL BASE; SMELLING DISORDER;

ADOLESCENT; ADULT; DIAGNOSIS, DIFFERENTIAL; ETHMOID BONE; FEMALE; HUMANS; HYPOGONADISM; KALLMANN SYNDROME; MAGNETIC RESONANCE IMAGING; MALE; OLFACTION DISORDERS; OLFACTORY BULB; PROSPECTIVE STUDIES; REPRODUCIBILITY OF RESULTS; ROC CURVE; SKULL BASE; TOMOGRAPHY, X-RAY COMPUTED; YOUNG ADULT;

EID: 84874866315     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-3553     Document Type: Article

References (30)

1. Schwanzel-Fukuda M, Jorgenson KL, Bergen HT, Weesner GD, Pfaff DW. Biology of normal luteinizing hormone-releasing hormone neurons during and after their migration from olfactory placode. Endocr Rev. 1992;13:623-634. (Pubitemid 23037207)
2. Maestre de San Juan A. Teratologia: falta total de los niervos olfactorios con anosmia en un individuo en quien existia una atrofia congenita de los testiculos y miembro viril. Siglo Medico. 1856;3: 211-221.
3. De Morsier G. [Studies in cranio-encephalic dysraphia. I. Agenesia of the olfactory lobe (lateral telencephaloschisis) and of the callous and anterior commissures (median telencephaloschisis); olfactogenital dysplasia]. Schweiz Arch Neurol Psychiatr. 1954;74:309-361.
4. Schwanzel-Fukuda M, Bick D, Pfaff DW. Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome. Brain Res Mol Brain Res. 1989;6:311-326. (Pubitemid 19283316)
5. Teixeira L, Guimiot F, Dode C, et al. Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions. J Clin Invest. 2010;120:3668-3672.
6. Klingmuller D, Dewes W, Krahe T, Brecht G, Schweikert HU. Magnetic resonance imaging of the brain in patients with anosmia and hypothalamic hypogonadism (Kallmann's syndrome). J Clin Endocrinol Metab. 1987;65:581-584. (Pubitemid 17131443)
7. Quinton R, Duke VM, de Zoysa PA, et al. The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis. J Clin Endocrinol Metab. 1996;81:3010-3017. (Pubitemid 26323901)
8. Fuerxer F, Carlier R, Iffenecker C, Schaison G, Doyon D. [Magnetic resonance imaging of the olfactory pathways in Kallmann de Morsier syndrome]. J Neuroradiol. 1996;23:223-230.
9. Koenigkam-Santos M, Santos AC, Versiani BR, Diniz PR, Junior JE, de Castro M. Quantitative magnetic resonance imaging evaluation of the olfactory system in Kallmann syndrome: correlation with a clinical smell test. Neuroendocrinology. 2011;94:209-217.
10. Quinton R, Beirne P, Bouloux PM, Stanhope RG, Conway GS. Routine neuroimaging in classical isolated gonadotrophin deficiency is of limited clinical value. Clin Endocrinol (Oxf). 2001;54: 127-129. (Pubitemid 32158717)
11. Li C, Yousem DM, Doty RL, Kennedy DW. Neuroimaging in patients with olfactory dysfunction. AJR Am J Roentgenol. 1994;162: 411-418. (Pubitemid 24065446)
12. Young J. Approach to the male patient with congenital hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2012;97:707-718.
13. Eloit C, Trotier D. Anew clinical olfactory test to quantify olfactory deficiencies. Rhinology. 1994;32:57-61. (Pubitemid 24253138)
14. Massin N, Pecheux C, Eloit C, et al. X Chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene. J Clin Endocrinol Metab. 2003;88:2003-2008. (Pubitemid 36549868)
15. Abolmaali ND, Hietschold V, Vogl TJ, Huttenbrink KB, Hummel T. MR evaluation in patients with isolated anosmia since birth or early childhood. AJNR Am J Neuroradiol. 2002;23:157-164.
16. Knorr JR, Ragland RL, Brown RS, Gelber N. Kallmann syndrome: MR findings. AJNR Am J Neuroradiol. 1993;14:845-851.
17. Truwit CL, Barkovich AJ, Grumbach MM, Martini JJ. MR imaging of Kallmann syndrome, a genetic disorder of neuronal migration affecting the olfactory and genital systems. AJNR Am J Neuroradiol. 1993;14:827-838.
18. Vogl TJ, Stemmler J, Heye B, et al. Kallman syndrome versus idiopathic hypogonadotropic hypogonadism at MR imaging. Radiology. 1994;191:53-57.
19. Yousem DM, Turner WJ, Li C, Snyder PJ, Doty RL. Kallmann syndrome: MR evaluation of olfactory system. AJNR Am J Neuroradiol. 1993;14:839-843.
20. Lebowitz RA, Terk A, Jacobs JB, Holliday RA. Asymmetry of the ethmoid roof: analysis using coronal computed tomography. The Laryngoscope. 2001;111:2122-2124. (Pubitemid 33117208)
21. Pagani JJ, Thompson J, Mancuso A, Hanafee W. Lateral wall of the olfactory fossa in determining intracranial extension of sinus carcinomas. AJR Am J Roentgenol. 1979;133:497-501. (Pubitemid 9223456)
22. Schwanzel-Fukuda M, Crossin KL, Pfaff DW, Bouloux PM, Hardelin JP, Petit C. Migration of luteinizing hormone-releasing hormone (LHRH) neurons in early human embryos. J Comp Neurol. 1996;366:547-557. (Pubitemid 26070619)
23. Matsumoto S, Yamazaki C, Masumoto KH, et al. Abnormal development of the olfactory bulb and reproductive system in mice lacking prokineticin receptor PKR2. Proc Natl Acad Sci USA. 2006;103:4140-4145.
24. Ng KL, Li JD, Cheng MY, Leslie FM, Lee AG, Zhou QY. Dependence of olfactory bulb neurogenesis on prokineticin 2 signaling. Science. 2005;308:1923-1927. (Pubitemid 40941878)
25. Sato N, Hasegawa T, Hori N, Fukami M, Yoshimura Y, Ogata T. Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report. Hum Reprod. 2005;20:2173-2178. (Pubitemid 41418502)
26. Dode C, Levilliers J, Dupont JM, et al. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet. 2003;33:463-465. (Pubitemid 36390006)
27. Dode C, Fouveaut C, Mortier G, et al. Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis. Hum Mutat. 2007;28:97-98.
28. Pitteloud N, Acierno JS Jr, Meysing A, et al. Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci USA. 2006;103:6281-6286.
29. Kim HG, Kurth I, Lan F, et al. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet. 2008;83:511-519.
30. Blustajn J, Kirsch CF, Panigrahy A, Netchine I. Olfactory anomalies in CHARGE syndrome: imaging findings of a potential major diagnostic criterion. AJNR Am J Neuroradiol. 2008;29:1266-1269.