Kusano Yoshiro
Third Department of Internal Medicine, Shirakawa Kosei General Hospital, Japan.
J Rural Med. 2020 Oct;15(4):217-220. doi: 10.2185/jrm.2020-011. Epub 2020 Oct 1.
Pendred syndrome is an autosomal recessive disorder characterized by the combination of sensorineural deafness and goiter and is caused by biallelic mutations in the gene. Thyroid function is generally reported as euthyroid or hypothyroid in this condition. We present a case of Pendred syndrome with hyperthyroidism. An 83-year-old woman with congenital deaf-mutism presented with complaints of nausea. She developed a large goiter and had hearing impairment. Her hearing level was 105 dB in both ears. She presented with hyperthyroidism and was treated with thiamazole. She had a homozygous mutation in c.1579A>C:p.T527P of the gene, confirming a diagnosis of Pendred syndrome. Pendred syndrome may develop into hyperthyroidism if the size of the goiter increases. Moreover, a homozygous mutation in c.1579A>C:p.T527P of the gene, which was previously reported to be associated with nonsyndromic hearing loss with enlarged vestibular aqueduct, may also cause Pendred syndrome.
彭德莱德综合征是一种常染色体隐性疾病，其特征为感音神经性耳聋和甲状腺肿，由该基因的双等位基因突变引起。在这种情况下，甲状腺功能通常报告为甲状腺功能正常或甲状腺功能减退。我们报告一例患有甲状腺功能亢进的彭德莱德综合征病例。一名83岁先天性聋哑女性因恶心前来就诊。她出现了一个大的甲状腺肿并有听力障碍。她双耳听力水平为105分贝。她患有甲状腺功能亢进并接受了甲巯咪唑治疗。她在该基因的c.1579A>C:p.T527P处有纯合突变，确诊为彭德莱德综合征。如果甲状腺肿增大，彭德莱德综合征可能会发展为甲状腺功能亢进。此外，先前报道与伴有扩大的前庭导水管的非综合征性听力损失相关的该基因c.1579A>C:p.T527P处的纯合突变，也可能导致彭德莱德综合征。
