Anteet Abeer M, Al Issa Sharifah T, Al-Ali Amer O, Al-Otaibi Hessah M, Mohamed Sarar, Babiker Amir, Al-Jurayyan Nasir A M
Department of pediatrics, College of Medicine , King Khalid University Hospital, King Saud University, Riyadh , Saudi Arabia.
Sudan J Paediatr. 2016;16(2):41-44.
Sanjad-Sakati Syndrome (SSS) is a rare autosomal recessive disorder characterized by congenital hypoparathyroidism, growth retardation and dysmorphism. Thyroid status of patients with SSS has not been widely explored. Therefore, we aimed to review the occurrence of autoimmune thyroiditis, which is commonly associated with other genetic disorders, in SSS. A retrospective hospital based study was conducted at King Khalid University Hospital, Riyadh, Saudi Arabia, to determine the thyroid status of patients with SSS attending the hospital between 1990 and 2015. Data were extracted from the medical records of patients diagnosed with Sanjad-Sakati syndrome with special emphasis on the clinical features, thyroid function, thyroid antibodies, molecular studies and other relevant investigations. A total of 18 patients with a diagnosis of Sanjad-Sakati Syndrome based on typical clinical features and low parathyroid hormone, were evaluated. Furthermore, molecular study was available on 15 patients; all had homozygous deletion of 12 bp (155-166) in exon 3 of the TCBE gene. In 6 patients the thyroid functions were abnormal (one patient with overt hypothyroidism and five patients with sub clinical hypothyroidism). Thyroid autoantibodies were positive in 4 patients. In conclusion, one third of this cohort with SSS had abnormal thyroid function test attributed mainly to autoimmune thyroiditis. Therefore, we recommend routine screening of patients with SSS for thyroid function and autoimmune antibodies during follow up.
桑贾德 - 萨卡蒂综合征（SSS）是一种罕见的常染色体隐性疾病，其特征为先天性甲状旁腺功能减退、生长发育迟缓及畸形。SSS患者的甲状腺状况尚未得到广泛研究。因此，我们旨在回顾SSS中自身免疫性甲状腺炎的发生情况，自身免疫性甲状腺炎通常与其他遗传疾病相关。在沙特阿拉伯利雅得的哈立德国王大学医院进行了一项基于医院的回顾性研究，以确定1990年至2015年间在该医院就诊的SSS患者的甲状腺状况。从被诊断为桑贾德 - 萨卡蒂综合征的患者的病历中提取数据，特别关注临床特征、甲状腺功能、甲状腺抗体、分子研究及其他相关检查。共有18例根据典型临床特征和低甲状旁腺激素诊断为桑贾德 - 萨卡蒂综合征的患者接受了评估。此外，15例患者进行了分子研究；所有患者在TCBE基因外显子3中均有12个碱基对（155 - 166）的纯合缺失。6例患者甲状腺功能异常（1例显性甲状腺功能减退，5例亚临床甲状腺功能减退）。4例患者甲状腺自身抗体呈阳性。总之，该SSS队列中有三分之一的患者甲状腺功能测试异常，主要归因于自身免疫性甲状腺炎。因此，我们建议在随访期间对SSS患者进行甲状腺功能和自身免疫抗体的常规筛查。
