Hereditary endocrine and metabolic diseases , caused by genetic factors, exhibit complex and diverse symptoms, including the possibility of concurrent sensorineural deafness. Currently, there is a limited clinical understanding of hereditary endocrine and metabolic diseases that manifest with deafness, the pathogenesis remains unclear,and there is a lack of effective diagnostic and treatment methods. This article summarizes the research progress of hereditary endocrine and metabolic diseases complicated with deafness from the pathogenesis, clinical phenotype, diagnosis and treatment. Understanding the current research progress and integrating genetic analysis into clinical practice are crucial for accurate diagnosis and treatment, evaluating clinical efficacy, and providing effective genetic counseling for these diseases.
摘要: 遗传性内分泌代谢疾病是遗传因素所致的内分泌代谢紊乱疾病，患者症状表现复杂多样，可合并感音神经性耳聋。目前临床上对合并感音神经性耳聋的遗传性内分泌代谢疾病认识十分有限，发病机制仍不明确，尚缺乏有效的诊治方法。本文从发病机制、临床表型、诊断和治疗等方面，对合并感音神经性耳聋的遗传性内分泌代谢疾病研究进展进行总结，并结合临床特征和相关基因分析，为其临床诊治、疗效评估及遗传咨询提供指导。.
Keywords: endocrinology disease; gene; hearing impairment; inherited metabolic disease.
Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.