Abstract：
Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder. Because HDR syndrome is caused by haploinsufficiency in GATA3, it exhibits variation in the onset and progression of hearing loss. In previous reports, the automated auditory brainstem response (AABR) was considered insufficient to detect sensorineural hearing loss caused by HDR syndrome. We report a case of HDR syndrome whose congenital hearing loss was detected by newborn hearing screening (NHS) using AABR. In this case, HDR syndrome was suspected due to hearing loss, hypocalcemia, and her family history. Genetic testing confirmed the diagnosis of HDR syndrome at 5 months of age. Because the phenotype of hearing loss due to HDR syndrome is variable and includes progressive hearing loss, these cases may not be detected by the HNS. However, most of the previous reports were published before the NHS became common and given the frequency of hearing loss complications in HDR syndrome. We consider that there is a reasonable number of HDR syndrome cases with abnormalities on the NHS. We believe that the NHS may also be useful for early detection of hearing loss due to HDR syndrome.
摘要：
甲状旁腺功能减退,耳聋,肾发育不良（HDR）综合征是一种常染色体显性疾病。由于HDR综合征是由GATA3中的单倍体功能不全引起的，因此它在听力损失的发作和进展中表现出变化。在以前的报告中，自动听觉脑干反应(AABR)被认为不足以检测HDR综合征引起的感觉神经性听力损失.我们报告了一例HDR综合征，其先天性听力损失是通过使用AABR进行新生儿听力筛查（NHS）检测到的。在这种情况下,HDR综合征被怀疑是由于听力损失，低钙血症,和她的家族史.基因检测证实了5个月大的HDR综合征的诊断。由于HDR综合征引起的听力损失的表型是可变的，包括进行性听力损失，这些病例可能未被HNS检测到。然而,考虑到HDR综合征中听力损失并发症的发生频率,以前的大部分报告都是在NHS变得普遍之前发表的.我们认为NHS上有合理数量的HDR综合症病例异常。我们认为，NHS也可能有助于早期发现HDR综合征引起的听力损失。
