Thomas Hacquart1, Aïcha Ltaief-Boudrigua2, Cécile Jeannerod3, Salem Hannoun4, Gérald Raverot5, Michel Pugeat5, Aude Brac de la Perriere5, Véronique Lapras6, Frédérique Nugues7, Catherine Dode8, Francois Cotton9. 1. Département universitaire d'anatomie de Rockefeller, UFR médecine Lyon-Est, 8, avenue Rockefeller, 69373 Lyon, France; Radiologie ostéo-articulaire et neuroradiologie, groupement hospitalier Edouard-Herriot, hospices civils de Lyon, 5, place d'Arsonval, 69437 Lyon, France. 2. Radiologie ostéo-articulaire et neuroradiologie, groupement hospitalier Edouard-Herriot, hospices civils de Lyon, 5, place d'Arsonval, 69437 Lyon, France. 3. UFR médecine Lyon-Est, 8, avenue Rockefeller, 69373 Lyon, France. 4. Abu-Haidar neuroscience institute, faculty of medicine, american university of Beirut, 11-0236 Riad-El-Solh, 1107 2020 Beirut, Lebanon. 5. Fédération d'endocrinologie, groupement hospitalier Est, hospices civils de Lyon, 59, boulevard Pinel, 69500 Bron, France. 6. Service de radiologie, centre hospitalier Lyon-Sud, hospices civils de Lyon, 165, chemin du Grand-Revoyet, 69495 Pierre-Bénite, France. 7. Imagerie pédiatrique, hôpital couple-enfant, CHU de Grenoble, boulevard de la Chantourne, 38700 La Tronche, France. 8. Laboratoire de biochimie et génétique moléculaire, hôpital Cochin, APHP, université Paris-Descartes, 27, rue du Faubourg Saint-Jacques, 75014 Paris, France. 9. Département universitaire d'anatomie de Rockefeller, UFR médecine Lyon-Est, 8, avenue Rockefeller, 69373 Lyon, France; Service de radiologie, centre hospitalier Lyon-Sud, hospices civils de Lyon, 165, chemin du Grand-Revoyet, 69495 Pierre-Bénite, France; CREATIS, CNRS UMR 5220 Inserm U1044, université Lyon 1, 7, avenue Jean-Capelle, 69621 Villeurbanne, France. Electronic address: francois.cotton@chu-lyon.fr.
Abstract
OBJECTIVE: The aim of this retrospective study was to perform magnetic resonance imaging assessment of olfactory pathway and skull base abnormalities in Kallmann syndrome (KS) patients with hypogonadotropic hypogonadism and olfaction disorder. METHODS: Magnetic resonance brain patterns were retrospectively studied in 19 patients clinically classified as KS. Qualitative assessment of olfactory bulb region comprised bulb atrophy and rectus and medial orbital gyrus ptosis; quantitative assessment measured olfactory fossa depth and width, sulcus depth and ethmoid angle. Results were compared to an age- and sex-matched control population (n=19) with no impairment in the region of interest. Sixteen of the 19 KS patients were genetically screened for mutations associated with KS. RESULTS: On the above qualitative criteria, 15 of the 19 patients presented either unilateral (n=2) or bilateral (n=13) olfactory bulb agenesis; 16 showed tract agenesis and 16 showed gyrus malformation (ptosis or absence). On the quantitative criteria, 18 of the 19 patients showed abnormal sulcus depth and/or olfactory fossa malformation and/or abnormal ethmoid angle. CONCLUSION: The presence of malformation abnormalities in the olfactory fossae of 18 of the 19 patients appears to be a key factor for etiological diagnosis of hypogonadotropic hypogonadism, and should enable targeted study of genes involved in KS.
OBJECTIVE: The aim of this retrospective study was to perform magnetic resonance imaging assessment of olfactory pathway and skull base abnormalities in Kallmann syndrome (KS) patients with hypogonadotropic hypogonadism and olfaction disorder. METHODS: Magnetic resonance brain patterns were retrospectively studied in 19 patients clinically classified as KS. Qualitative assessment of olfactory bulb region comprised bulb atrophy and rectus and medial orbital gyrus ptosis; quantitative assessment measured olfactory fossa depth and width, sulcus depth and ethmoid angle. Results were compared to an age- and sex-matched control population (n=19) with no impairment in the region of interest. Sixteen of the 19 KS patients were genetically screened for mutations associated with KS. RESULTS: On the above qualitative criteria, 15 of the 19 patients presented either unilateral (n=2) or bilateral (n=13) olfactory bulb agenesis; 16 showed tract agenesis and 16 showed gyrus malformation (ptosis or absence). On the quantitative criteria, 18 of the 19 patients showed abnormal sulcus depth and/or olfactory fossa malformation and/or abnormal ethmoid angle. CONCLUSION: The presence of malformation abnormalities in the olfactory fossae of 18 of the 19 patients appears to be a key factor for etiological diagnosis of hypogonadotropic hypogonadism, and should enable targeted study of genes involved in KS.