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.
Key words: Autoimmune; Children; Sanjad Sakati Syndrome; Saudi Arabia; Thyroiditis