Establishing the Saudi pediatric and youth diabetes registry: initial data and challenges.

The Saudi National Diabetes Registry focuses mainly on adult patients. In 2020, the National Guard Health Authority (NGHA) launched the Saudi Pediatric and Youth Diabetes Registry (SPYDR), for children and adolescents with diabetes. This report is about the first data and the challenges we faced during SPYDR initiation. Patients were identified from the electronic medical records of the Saudi NGHA hospitals using the International Classification of Disease (ICD-10). A trained coordinator verified the diagnosis and entered patients' details into the registry and a random sample was validated by experienced endocrinologists. The data were analyzed according to patients' demography, diabetes subtypes, duration, control, and complications. The challenges faced by the team were identified and addressed. At the time of manuscript submission, 2,344 individuals were enrolled. Their mean age at diagnosis was 9.08 (±4.27) years and 1,136 (48.46%) were females. Of these, 91.3% have type 1 (T1D), and 6.4% have type 2 diabetes (T2D). The mean HbA1c was 10.45% (±2.36) and duration of diabetes was 5.31 (±3.05) years. The main challenges included the COVID-19 pandemic, data validation, and centers' participation. However, within 12 months of initiation enrolled subjects matched the expected number. Despite the challenges, the first step of SPYDR was achieved. The initial data confirmed that T1D is the most common form of childhood diabetes, and the frequency of T2D is comparable to regional and international data. SPYDR provides the infrastructure for data sharing and collaborative research with the enrollment of patients from other Saudi healthcare institutes.

Congenital hypothyroidism in Saudi population in two major cities: A retrospective study on prevalence and therapeutic outcomes.

OBJECTIVE: Congenital hypothyroidism (CH) is a common cause of preventable severe neurocognitive impairment in children. Previously conducted studies describing the natural history of CH in Saudi Arabia were either of shorter duration or a limited number of patients. In this study, we aim to assess our experience in the clinical course and therapeutic outcome of CH in two large tertiary centers in Saudi Arabia. METHODS: This is a retrospective chart review of patients <18 years of age diagnosed with CH at King Abdulaziz Medical City in Jeddah and Riyadh, Saudi Arabia, between 2000 and 2018. Data were collected from the patients' medical records, including epidemiological, clinical, laboratory, and radiological features as well as a long-term outcome of CH. Statistical analysis was carried out using the JMP statistical software. This study was approved by the Institutional Review Board (IRB) at King Abdullah International Medical Research Center (KAIMRC). RESULTS: Out of the 71 cases, 53.5% were female, and 80.3% of these cases were diagnosed in the 1st week of life. The estimated incidence of CH is 1:2470 in the two study centers. Ectopic thyroid (43%, n = 25/58), dyshormonogenesis (34.5%, n = 20/58), and thyroid agenesis and hypoplasia (22.4%, n = 13/58). Learning difficulty was significantly associated with delayed treatment onset (P = 0.044) and lower compliance with treatment (P = 0.001). CONCLUSION: In our study, the incidence of dyshormonogenesis in CH is higher than international rates (34.5% vs. 20%), possibly because of consanguinity. Effective neonatal screening program facilitates early diagnosis that leads to prompt management of CH and avoidance of long-term outcome of neurocognitive impairment.

A homozygous mutation in the insulin gene (INS) causing autosomal recessive neonatal diabetes in Saudi families.

PURPOSE: Insulin gene (INS) mutations are a rare cause of permanent neonatal diabetes and mature-onset diabetes of the young (MODY10). Homozygous mutations have been reported to cause diabetes by decreasing insulin biosynthesis through distinct mechanisms. In this study, we report a homozygous mutation c.-331C>G in the INS gene causing autosomal recessive neonatal diabetes in Saudi families and share our experience with diagnosis and management. METHODS: We retrospectively reviewed all cases diagnosed with diabetes during the first week of life. We identified 18 cases, and all underwent genetic testing to identify the cause. Most had mutations in common genes (9 in KCNJ11 and 5 in ABCC8). The inclusion criterion for this study was a mutation in the INS gene. RESULTS: Four patients from 3 Saudi families had mutations in the INS gene. All patients were born with low birth weight and were diagnosed with neonatal diabetes at the age of 2 days. Sanger sequencing analysis identified a homozygous INS pathogenic promoter variant, c.-331C>G. All patients were managed by insulin therapy. Two patients had persistent diabetes and in 2 cases diabetes resolved. CONCLUSION: This report indicates that a homozygous mutation in the INS gene is a probable and important cause of neonatal diabetes in Saudi Arabia. The c.-331C>G variant in the INS gene identified in our study showed variability both within and between families and different outcomes ranging from early resolution of diabetes after 2 months of life to permanent diabetes.

Use of Aspirin and Statin as primary prevention for cardiovascular diseases.

OBJECTIVE: To ascertain whether recommendations for the use of Statins and Aspirin as primary prevention in diabetic patients are correctly implemented at our institution. METHODS: This cross-sectional study was conducted between February 2014 and April 2014 at the General Practice Department of King Abdulaziz University Hospital. Three hundred twelve patients were included in the study. Data were collected from the electronic patient medical records for the characteristics of the patients, existing co-morbidities, and results of laboratory investigations. Descriptive statistics were performed for all variables. RESULTS: Of 312 patients, aspirin was indicated for 17.0% but it was not prescribed. It was both indicated and prescribed in 36.2% of the cases. Statin treatment was indicated in 27.2% of the patients but it was not prescribed, while in 63.1% of cases it was indicated and prescribed. CONCLUSION: The proportion of patients who achieved treatment targets at our institution is greater than that reported by other studies, albeit treatment targets are not being met in a significant number of cases.