Ipek Rojan, Bozdogan Sevcan Tug, Kömür Mustafa, Okuyaz Cetin
Department of Pediatrics, Division of Neurology, Training and Research Hospital, Adıyaman University, Adıyaman, Turkey.
Department of Medical Genetics, Medical Faculty, Çukurova University, Adana, Turkey.
J Pediatr Genet. 2021 Dec 13;13(2):144-148. doi: 10.1055/s-0041-1740457. eCollection 2024 Jun.
Allan-Herndon-Dudley's syndrome (AHDS) is a rare X-linked recessive disease that causes abnormal serum thyroid function tests, severe hypotonia, intellectual disability, and motor deficit due to a mutation in the monocarboxylate transporter 8, which is a thyroid hormone transporter. A 6-month-old male patient presented to our outpatient clinic with a serious hypotonia complaint. With a preliminary diagnosis of AHDS, a molecular genetic examination was performed. The molecular genetic analysis detected a new previously unidentified variant in the gene. This case has been presented to report the AHDS, which is a rare cause of hypotonia in patients presenting/consulting with severe hypotonia, global developmental delay, and abnormal thyroid function test results. Besides, a novel pathogenic mutation in the gene has been described in the present article.
艾伦-赫恩登-达德利综合征（AHDS）是一种罕见的X连锁隐性疾病，由于单羧酸转运体8（一种甲状腺激素转运体）发生突变，导致血清甲状腺功能检查异常、严重肌张力减退、智力残疾和运动功能障碍。一名6个月大的男性患者因严重肌张力减退主诉前来我院门诊就诊。初步诊断为AHDS后，进行了分子遗传学检查。分子遗传学分析在该基因中检测到一个新的、以前未鉴定出的变异。本文报告了该病例，AHDS是出现严重肌张力减退、全面发育迟缓及甲状腺功能检查结果异常的患者肌张力减退的罕见病因。此外，本文还描述了该基因中的一种新的致病突变。
