Department of Otolaryngology-Head and Neck Surgery, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan.
Department of Otolaryngology-Head and Neck Surgery, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan.
Auris Nasus Larynx. 2024 Apr;51(2):406-410. doi: 10.1016/j.anl.2023.08.007. Epub 2023 Aug 27.
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.
甲状旁腺功能减退、耳聋和肾发育不良（HDR）综合征是一种常染色体显性遗传疾病。由于 HDR 综合征是由 GATA3 单倍不足引起的，因此其耳聋的发病和进展存在差异。在以前的报告中，自动听性脑干反应（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 综合征病例，该病例的先天性听力损失通过 AABR 进行的新生儿听力筛查（NHS）检测到。在该病例中，由于听力损失、低钙血症和家族史，怀疑患有 HDR 综合征。基因检测在 5 个月大时确诊为 HDR 综合征。由于 HDR 综合征引起的听力损失表型具有变异性，包括进行性听力损失，因此这些病例可能无法通过 NHS 检测到。然而，大多数以前的报告都是在 NHS 普及之前发表的，而且 HDR 综合征中听力损失并发症的发生率很高。我们认为 NHS 可能也有助于早期发现 HDR 综合征引起的听力损失。
