Université Paris-Sud, Faculté de Médecine Paris-Sud, Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Le Kremlin Bicêtre, France.
J Clin Endocrinol Metab. 2013 Mar;98(3):E537-46. doi: 10.1210/jc.2012-3553. Epub 2013 Jan 24.
Kallmann syndrome (KS) is characterized by congenital hypogonadotropic hypogonadism (CHH) and an impaired sense of smell related to defective development of the olfactory system.
The aim of the study was to use high-resolution computed tomography (CT) to detect specific abnormalities in the ethmoid bone region surrounding the olfactory bulbs in patients with KS.
Thirty-seven KS patients were compared to normosmic CHH (nCHH) patients (n = 15) and controls (n = 30) of similar age.
We conducted a prospective study in a single referral center. Subjects underwent CT in bone windows with axial, coronal, and sagittal reconstructions centered on the olfactory fossa (OF) and cribriform plate (CP). We characterized the OF structure by measuring OF height, width, and surface area and a series of angles. The CP foramina were counted bilaterally. Olfactory bulb magnetic resonance imaging, performed in parallel, was compared with CT findings.
OF height, width, and surface area were all significantly lower in KS patients than in nCHH patients and controls (P < .0001). KS patients also had wider angles than nCHH patients and controls (P < .0001). KS subjects with olfactory bulb agenesis on magnetic resonance imaging or who harbored KAL1 mutations had the most marked changes in OF measurements and angles. Coronal OF height distinguished KS patients from controls with the best sensitivity and specificity. The mean number of CP foramina was similar in KS, nCHH, and control subjects.
KS is associated with specific ethmoid bone abnormalities. The preserved number of CP foramina in KS patients suggests that the integrity of olfactory structures is not mandatory for their formation during fetal development or their maintenance in adult life.
卡尔曼综合征（KS）的特征是先天性促性腺激素低下性性腺功能减退症（CHH）和嗅觉障碍，这与嗅觉系统发育缺陷有关。
本研究旨在使用高分辨率计算机断层扫描（CT）检测 KS 患者嗅球周围筛骨区域的特定异常。
将 37 例 KS 患者与嗅觉正常的 CHH（nCHH）患者（n=15）和年龄匹配的对照组（n=30）进行比较。
我们在一家单转诊中心进行了一项前瞻性研究。受试者在骨窗中进行 CT 检查，轴位、冠状位和矢状位重建以嗅腔（OF）和筛板（CP）为中心。我们通过测量 OF 高度、宽度和表面积以及一系列角度来描述 OF 结构。双侧计数 CP 孔。同时进行嗅球磁共振成像（MRI）检查，并与 CT 结果进行比较。
KS 患者的 OF 高度、宽度和表面积均明显低于 nCHH 患者和对照组（P<.0001）。KS 患者的角度也比 nCHH 患者和对照组宽（P<.0001）。具有嗅球发育不全的 KS 患者和具有 KAL1 突变的 KS 患者的 OF 测量和角度变化最为明显。冠状面 OF 高度对 KS 患者的诊断具有最佳的敏感性和特异性。KS、nCHH 和对照组患者 CP 孔的平均数量相似。
KS 与特定的筛骨异常有关。KS 患者 CP 孔数量保持不变，提示嗅觉结构的完整性对于其在胎儿发育过程中的形成或在成人生活中的维持并非必需。
