目的 分析Kallmann综合征（Kallmann syndrome， KS）患儿的临床及基因型特点，加强对该病的认识。方法 回顾性分析20例确诊KS患儿的临床特点、全外显子基因测序结果以及治疗效果。结果 20例患儿中男性17例，女性3例，平均诊断时年龄为13.13岁。男性患儿表现为小阴茎、睾丸体积小以及双侧隐睾，女性表现为原发性闭经及乳房无发育。完善中国气味识别测试提示93.75%（15/16）患儿有嗅觉丧失。KS患儿可能合并其他系统表现，包括神经发育迟缓、智力低下、指趾骨异常、听力障碍及先天性唇腭裂等。全外显子基因测序发现累及6个致病基因（FGFR1, CHD7, SOX10, PROKR2, KAL1, SOX2）的12个变异位点，分子诊断率达63.16%（12/19）。接受脉冲式GnRH泵治疗后患儿睾丸体积、阴茎长度、阴茎周长、T、LH、FSH均有显著改善，且无明显不良反应。结论 应用中国气味识别测试能更精确地评估KS患儿嗅觉功能。全外显子基因检测有助于提高该病的分子诊断，帮助此类罕见病患儿尽早明确诊断。脉冲式GnRH泵治疗有助于促进KS患儿的性征发育且无明显不良反应。

Objective To analyze the clinical and genotypic characteristics of children with Kallmann syndrome (KS), and to strengthen clinicians' understanding of the disease. Methods The clinical characteristics, whole-exome gene sequencing results, and treatment outcomes of 20 KS patients were retrospectively analyzed. Results Among the 20 patients, 17 were boys and 3 were girls. The mean age at diagnosis was 13.13 years old. Male children presented micropenis with small testicular size and history of bilateral cryptorchidism, while female patients presented primary amenorrhea and retardation of breast development. The results of Chinese odor recognition test indicated that 93.75% (15/16) children had olfactory disorder. Children with KS may have other systemic manifestations, including neurodevelopmental delay, mental retardation, phalangeal abnormalities, hearing impairment, and congenital cleft lip and palate. Among the 19 patients who underwent whole-exome gene sequencing, 12 variation sites in 6 genes were found, including FGFR1, CHD7, SOX10, KAL1, PROKR2 and SOX2. The molecular diagnosis rate was 63.16% (12/19). Testicular size, penile length, penile girth, T, LH and FSH were significantly improved after receiving pulsatile GnRH pump treatment, and there were no obvious adverse reactions. Conclusions The application of Chinese odor recognition tests can more accurately evaluate olfactory function in children with KS. The whole-exome gene sequencing technology is helpful to improve the molecular diagnosis of the disease, so as to diagnose the children with this rare disease as early as possible. Pulsatile GnRH pump therapy promotes sexual development in children with KS without obvious adverse effects.