| 熊冬琴,李瑞珍.青春期前嗅觉缺失型孤立性低促性腺激素性性腺功能减退症男童 1例早期诊断分析[J].安徽医药,2025,29(11):2237-2240. |
| 青春期前嗅觉缺失型孤立性低促性腺激素性性腺功能减退症男童 1例早期诊断分析 |
| A case analysis of early clinical diagnosis in a prepubertal boy with anosmic form of isolated hypogonadotropic hypogonadism |
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| DOI：10.3969/j.issn.1009-6469.2025.11.025 |
| 中文关键词: 卡尔曼综合征 小阴茎 小睾丸 青春期前 嗅觉缺乏 基因突变 早期诊断 |
| 英文关键词: Kallmann syndrome Micropenis Small testicles Prepubertal Anosmia Gene mutation Early diagnosis |
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| 中文摘要: |
| 目的分析嗅觉缺失型孤立性低促性腺激素性性腺功能减退症(又称卡尔曼综合征)青春期前男性儿童的临床资料及基因检测结果，探讨其早期临床诊断方式。方法采集 2020年 3月武汉儿童医院确诊的 1例卡尔曼综合征青春期前男性儿童的临床表现、性激素、影像学检查、嗅觉测试及全外显子基因测序检测等结果进行回顾性分析，总结临床特点。结果男， 11岁，身高 140.5 cm，体质量 35 kg，以“小阴茎、小睾丸”就诊；睾酮: 0.14 μg/L，促卵泡激素( FSH):0.00 IU/L，促黄体素( LH):0.05 IU/L；甲状腺轴功能、肾上腺轴功能、生长激素轴功能及泌乳素大致正常； 17羟孕酮、雄烯二酮未见异常；鞍区磁共振成像(MRI)未见下丘脑及垂体器质性病变；染色体核型正常；嗅球 MRI提示:嗅球、嗅束未见明确显示；全外显子基因测序检测提示 CHD7基因突变。结论以小阴茎、小睾丸为表现的青春期前卡尔曼综合征男性儿童可以通过临床表现、体格检查、实验室及 |
| 英文摘要: |
| Objective To analyze the clinical data and genetic testing results of a prepubertal male child with anosmic form of isolat-ed hypogonadotropic hypogonadism (Kallmann syndrome), and to explore its early clinical diagnosis methods.Methods A retrospec-tive analysis was performed on the clinical manifestations, sex hormones levels, imaging examinations, olfactory tests, and whole-exome sequencing results of a prepubertal boy diagnosed with Kallmann syndrome at Wuhan Children's Hospital in March 2020, to summa-rize the clinical characteristics.Results The patient was an 11-year-old male, height 140.5 cm, weight 35 kg, who presented with "mi-cropenis and small testicles". Testosterone was 0.14 μg/L, follicle-stimulating hormone (FSH) was 0.00 IU/L, luteinizing hormone (LH)basal value was 0.05 IU/L. Functions of the thyroid, adrenal, and growth hormone axes, as well as prolactin level, were generally nor-mal. Levels of 17-hydroxyprogesterone and androstenedione were normal. Sellar magnetic resonance imaging (MRI) showed no organiclesions in the hypothalamus or pituitary gland. Chromosomal karyotype was normal. Olfactory bulb MRI suggested that the olfactorybulbs and tracts were not clearly visualized. Whole-exome sequencing identified a CHD7 gene mutation. Conclusions Prepubertalboy with Kallmann syndrome presenting with micropenis and small tests can be clinically diagnosed early based on clinical manifesta-tions, physical examination, laboratory tests, and imaging studies. Genetic testing serves as a further auxiliary diagnostic tool. |
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