先天性小阴茎的病因学、诊断评估和治疗进展  

Etiology,diagnostic evaluation and progress in treatment of micropenis

作　　者：肖跃海 李彦锋 XIAO Yuehai;LI Yanfeng(Department of Urology,Affiliated Hospital of Guizhou Medical University,Guiyang 550004,China)

机构地区：[1]贵州医科大学附属医院泌尿外科,贵阳550004

出　　处：《西南医科大学学报》2024年第6期494-501,共8页Journal of Southwest Medical University

摘　　要：小阴茎是指阴茎外观结构正常,其拉伸长度小于同年龄组人群阴茎平均值减2.5倍标准差的异常短小阴茎。导致小阴茎的常见病因包括:下丘脑-垂体-性腺轴(HPG轴)功能障碍、雄激素合成和作用障碍、常染色体或性染色体非整倍体引起的综合征、阴茎发育不良或缺如、母亲抗真菌药物或抗雄激素药物使用、环境内分泌干扰物影响、特发性小阴茎等。小阴茎患者常合并小睾丸、男性第二性征不足、成年后不育症、身材矮小等表现。对阴茎长度的精准规范评估应测量其拉伸长度。小阴茎患者应由多学科团队进行临床、遗传学和内分泌综合评估,在明确病因基础上,积极临床干预,个性化选择治疗方案,以期有效改善阴茎长度,提高生活质量。根据性激素作用于HPG轴环节的不同,可将药物治疗分为应用GnRH脉冲泵治疗的青春期全模拟方案、应用促性腺激素治疗的部分模拟方案及应用睾酮或双氢睾酮的终端模拟方案。但目前尚无针对小阴茎的诊治规范和专家共识,其最佳治疗时机、药物方案选择和最佳适应证等均值得深入研究。Micropenis is defined as a penis that is normal in terms of shape and function,but is more than 2.5 standard deviations(SD)smaller than mean size in terms of length.The common causes of micropenis include:Hypothalamic-pituitary dysfunction,gonadal dysfunction,androgen synthesis and action disorders,syndromes caused by autosomal or sex chromosome aneuploidy,penile agenesis(aphallia),maternal use of antifungal and antiandrogenic drug,environmental endocrine disruptors,idiopathic micropenis,etc.Patients with micropenis are often combined with small testicles,lack of male secondary sexual characteristics,infertility after adulthood,short stature and other manifestations.An accurate normative assessment of the length of the penis should measure stretching penile length(SPL).Patients with micropenis should be evaluated by a multidisciplinary team in a comprehensive clinical,genetic,and endocrine manner.The Patients should actively accept clinical interventions and personalized treatment on the basis of definitive etiology,in order to effectively improve the length of the penis and quality of life.Drug therapy can be divided into adolescent full simulation using GnRH pulse pump therapy,partial simulation using gonadotropin therapy,and terminal simulation using testosterone or dihydrotestosterone based on the different effects of sex hormones on the HPG axis.However,there is currently no consensus or guidelines on micropenis for its diagnosis and treatment.The optimal treatment timing,drug regimen selection,and optimal indications are all worthy of in-depth study.

关 键 词：小阴茎 病因 诊断 治疗 

分 类 号：R4[医药卫生—临床医学]