National Health Commission, Key laboratory of Endocrinology, Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
Department of Psychology, University of Chinese Academy of Sciences, Beijing, China.
Front Endocrinol (Lausanne). 2022 Sep 16;13:909623. doi: 10.3389/fendo.2022.909623. eCollection 2022.
The aim of this study was to evaluate the diagnostic accuracy of different olfactory evaluation tools in congenital hypogonadotropic hypogonadism (CHH) patients.
Seventy-one CHH patients were prospectively recruited at Peking Union Medical College Hospital between November 2020 and July 2021. The Chinese Olfactory Function Test (COFT) and Self-reported Olfactory Scale (SROS) were adapted as the subjective tools for the evaluation of olfactory function, and magnetic resonance imaging of olfactory apparatus (MRI-OA) was the objective tool. The olfactory bulb volume (OBV) and the olfactory sulcus depth (OSD) were quantified.
Based on the COFT, 36 patients were categorized as having normosmic CHH (nCHH), and the other 35 patients were categorized as having Kallmann syndrome (KS). Among nCHH patients, 35 patients were classified as having normal olfaction and 1 patient had abnormal olfaction by SROS. For KS patients, there were 30 patients grouped into abnormal olfaction, while 5 patients had normal olfaction by SROS. For MRI-OA, 67% (18/27) of nCHH patients showed normal olfactory apparatus, and 33% (9/27) showed bilateral or unilateral olfactory bulb aplasia or hypoplasia. Among KS patients, 96% (27/28) of patients showed bilateral olfactory bulb hypoplasia or aplasia, and 4% (1/28) of patients showed normal olfactory apparatus. All six patients with unilateral olfactory bulb aplasia and three patients with bilateral olfactory bulb aplasia showed normal olfactory function. The accuracy of the SROS in the diagnosis of nCHH and KS was 91.5%, with a sensitivity of 0.857 and a specificity of 0.972, while the accuracy of MRI-OA is 92.7%, with a sensitivity of 0.964 and a specificity of 0.889.
SROS and MRI-OA both showed high accuracy to distinguish between KS and nCHH. The abnormal structure of the olfactory apparatus was relatively common in nCHH patients. CHH patients with unilateral olfactory bulb aplasia dysplasia usually had normal olfaction. Normal olfaction without apparent olfactory bulbs is rare but occurred in male CHH patients.
本研究旨在评估不同嗅觉评估工具在先天性低促性腺激素性性腺功能减退症（CHH）患者中的诊断准确性。
2020 年 11 月至 2021 年 7 月，前瞻性招募了 71 例 CHH 患者，在北京协和医院就诊。采用中文版嗅觉功能测试（COFT）和自我报告嗅觉量表（SROS）作为嗅觉功能评估的主观工具，磁共振嗅觉器官成像（MRI-OA）作为客观工具。定量嗅觉球体积（OBV）和嗅沟深度（OSD）。
根据 COFT，36 例患者被归类为正常嗅觉 CHH（nCHH），另 35 例患者被归类为 Kallmann 综合征（KS）。在 nCHH 患者中，35 例患者嗅觉正常，1 例 SROS 嗅觉异常。对于 KS 患者，30 例 SROS 嗅觉异常，5 例 SROS 嗅觉正常。对于 MRI-OA，27 例 nCHH 患者中 67%（18/27）嗅觉器官正常，33%（9/27）双侧或单侧嗅球发育不全或缺失。在 KS 患者中，28 例患者中 96%（27/28）双侧嗅球发育不全或缺失，4%（1/28）嗅觉器官正常。所有 6 例单侧嗅球缺失和 3 例双侧嗅球缺失的患者嗅觉功能均正常。SROS 诊断 nCHH 和 KS 的准确率为 91.5%，灵敏度为 0.857，特异性为 0.972，MRI-OA 的准确率为 92.7%，灵敏度为 0.964，特异性为 0.889。
SROS 和 MRI-OA 均具有较高的准确性来区分 KS 和 nCHH。嗅觉器官异常结构在 nCHH 患者中较为常见。单侧嗅球发育不良的 CHH 患者嗅觉通常正常。无明显嗅球的正常嗅觉很少见，但发生在男性 CHH 患者中。
