低IHH合并严重胰岛素抵抗一例并文献复习

Idiopathic hypogonadotropic hypogonadism combined with severe insulin resistance: one case report and literature review

目的分析特发性低促性腺激素性性腺功能减退症(IHH)的临床特点及该症合并严重胰岛素抵抗的原因。方法分析1例非肥胖青少年IHH合并严重胰岛素抵抗患者的临床表现、实验室检查和基因检测结果,并以"特发性低促性腺激素性性腺功能减退/idiopathie hypogonadotropic hypogonadism"和"胰岛素抵抗/insulin resistance"为检索词,在Pub Med、中国生物医学文献服务系统(Sino Med)、中国期刊全文数据库(CNKI)、万方数据知识服务平台和维普中文科技期刊数据库检索并分析相关文献。结果该患者16岁,因"发现阴茎、睾丸小10余年"入院,有勃起,无遗精,无胡须、腋毛、阴毛。颈背可见黑棘皮样改变,阴茎呈幼稚型。实验室检查显示卵泡刺激素、黄体生成素、睾酮水平均低,促性腺激素释放激素和人体绒膜促性腺激素兴奋试验均阳性,染色体核型为:男性,XY型。基因检测:未发现染色体非整倍体变异及已知的、致病性明确的100 kb以上的微缺失/微重复变异。葡萄糖钳夹实验提示严重胰岛素抵抗。检索文献,收集到IHH和胰岛素抵抗相关的国内外文献共23篇,提示IHH可引起胰岛素抵抗,但未见IHH合并胰岛素抵抗的个案报道,有关IHH疾病的报道中较少出现胰岛功能和代谢相关指标检测。结论 IHH合并严重胰岛素抵抗较少见,临床症状不典型。胰岛素抵抗与IHH相关,两者可相互作用,IHH患者常合并代谢异常,建议常规评估其胰岛功能、糖代谢情况。

Objective To analyze the clinical characteristics of idiopathic hypogonadotropic hypogonadism （IHH） and the cause of complicated with severe insulin resistance. Methods Clinical manifestations, laboratory examination and genetic test results of one case of non-obese adolescent diagnosed with IHH complicated with severe insulin resistance were retrospectively analyzed. Literature review was performed using the key words of idiopathic hypogonadotropic hypogonadism and insulin resistance in both English and Chinese from PubMed, SinoMed, CNKI, Wanfang data and Chongqing Vip databases. Results The 16-year old patient was admitted due to the chief complaint of short penis and micro-orchidia for over 10 years. He had erection function with no spermatorrhea, beard, pubic hair or armpit hair. Black thorn skin was visible in his neck and the penis was ateliosis. Laboratory tests demonstrated that the levels of FSH, LH and testosterone were low, and both GnRH and HCG stimulation tests yielded positive outcomes. The chromosome karyotype was XY. Genetic detection showed that there was no chromosome aneuploidy mutation or a known pathogenic microdeletion/microrepeated mutation of more than 100 kb. The glucose clamp technique prompted severe insulin resistance. A total of 23 literatures related to IHH and insulin resistance were retrieved, hinting that IHH can lead to insulin resistance, whereas no case of IHH complicated with insulin resistance has been reported. In addition, insulin function and metabolism-related index have been rarely investigated in IHH reports. Conclusions IHH complicated with severe insulin resistance has been rarely reported with atypical clinical symptoms. Insulin resistance is associated with IHH and they can mutually interact. IHH patients are likely to be complicated with metabolic disorder. It is recommended to perform routine evaluation of insulin function and glucose metabolism.