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Abstract：
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.
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.
摘要：
这项研究的目的是评估先天性低促性腺激素性腺功能减退症（CHH）患者不同嗅觉评估工具的诊断准确性。
2020年11月至2021年7月，北京协和医院前瞻性招募了71名CHH患者。采用中国嗅觉功能测试(COFT)和嗅觉自我报告量表(SROS)作为嗅觉功能评价的主观工具,嗅觉设备磁共振成像（MRI-OA）是客观工具。对嗅球体积(OBV)和嗅沟深度(OSD)进行定量。
基于COFT，36例患者被归类为正常CHH（nCHH），其他35例患者被归类为Kallmann综合征(KS).在nCHH患者中，通过SROS将35例患者分为正常嗅觉，1例患者分为异常嗅觉。对于KS患者，有30名患者分为异常嗅觉，5例患者通过SROS嗅觉正常。对于MRI-OA,67%(18/27)的nCHH患者显示正常嗅觉，33％（9/27）显示双侧或单侧嗅球发育不全或发育不全。在KS患者中，96%(27/28)的患者表现为双侧嗅球发育不全或发育不全,4%(1/28)的患者嗅觉正常。所有6例单侧嗅球发育不全患者和3例双侧嗅球发育不全患者的嗅觉功能均正常。SROS诊断nCHH和KS的准确率为91.5%,敏感性为0.857，特异性为0.972，而MRI-OA的准确性为92.7％，灵敏度为0.964，特异性为0.889。
SROS和MRI-OA均显示出区分KS和nCHH的高准确性。嗅器结构异常在nCHH患者中相对常见。单侧嗅球发育不良的CHH患者通常嗅觉正常。没有明显嗅球的正常嗅觉很少见，但发生在男性CHH患者中。
2020年11月至2021年7月，北京协和医院前瞻性招募了71名CHH患者。采用中国嗅觉功能测试(COFT)和嗅觉自我报告量表(SROS)作为嗅觉功能评价的主观工具,嗅觉设备磁共振成像（MRI-OA）是客观工具。对嗅球体积(OBV)和嗅沟深度(OSD)进行定量。
基于COFT，36例患者被归类为正常CHH（nCHH），其他35例患者被归类为Kallmann综合征(KS).在nCHH患者中，通过SROS将35例患者分为正常嗅觉，1例患者分为异常嗅觉。对于KS患者，有30名患者分为异常嗅觉，5例患者通过SROS嗅觉正常。对于MRI-OA,67%(18/27)的nCHH患者显示正常嗅觉，33％（9/27）显示双侧或单侧嗅球发育不全或发育不全。在KS患者中，96%(27/28)的患者表现为双侧嗅球发育不全或发育不全,4%(1/28)的患者嗅觉正常。所有6例单侧嗅球发育不全患者和3例双侧嗅球发育不全患者的嗅觉功能均正常。SROS诊断nCHH和KS的准确率为91.5%,敏感性为0.857，特异性为0.972，而MRI-OA的准确性为92.7％，灵敏度为0.964，特异性为0.889。
SROS和MRI-OA均显示出区分KS和nCHH的高准确性。嗅器结构异常在nCHH患者中相对常见。单侧嗅球发育不良的CHH患者通常嗅觉正常。没有明显嗅球的正常嗅觉很少见，但发生在男性CHH患者中。
