This study shows that after a six-year follow-up in an iodine sufficient area, 6.7% of euthyroid subjects were found to progress to thyroid dysfunction, in particular subclinical hypothyroidism.

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In MetS without coronary artery disease, echocardiography demonstrated subclinical systolic and diastolic dysfunction.

Familial hypercholesterolemia (FH) is a common, yet underdiagnosed, genetic disorder characterized by lifelong elevated low-density lipoprotein cholesterol levels, which can increase the risk of early-onset coronary artery disease (CAD). In the present study, we screened the nucleotide variations of the LDLR and PCSK9 genes, as well as a part of the APOB gene, in Iranian patients with FH and premature CAD to find the genetic cause of the disorder. Fifteen unrelated individuals with a clinical diagnosis of FH and premature CAD were recruited. Direct DNA sequencing was applied to screen the whole coding exons and exon–intron boundaries of the LDLR and PCSK9 genes and the main parts of their introns, together with exon 26 of the APOB gene. The pathogenicity of the identified mutations was investigated via either segregation analyses in the family or in silico predictive software. Six different point mutations (p.Cys148Tyr, p.Cys216Tyr, p.Cys302Trp, p.Cys338Trp, p.Leu479Gln, and p.G593Afs∗72) in LDLR and a double mutation (p.Asp172His and p.Ala53Val) in both LDLR and PCSK9 genes were identified in seven families with clinically diagnosed FH (43%), whereas no pathogenic mutations were found in eight families with clinically diagnosed FH. This study is the first to identify 1 pathogenic mutation in the LDLR gene (c.1014C > G [p.Cys338Trp]) and to cosegregate it from the affected individual in the family. No mutations were found in the APOB gene, whereas several silent mutations/polymorphisms were identified in the LDLR and PCSK9 genes. Genetic testing and reports on nucleotide alterations in the Iranian population are still limited. Our findings not only further confirm the significant role of FH in the incidence of premature CAD but also enlarge the spectrum of LDLR and PCSK9 variations and exhibit the heterogeneity of FH in Iranians. In patients with no mutation in the examined genes, the disease could be begotten either by a polygenic cause or by gene defects occurring in other related genes and regions not targeted in this study.

Aims The relationship between insulin resistance (IR) and glucose intolerance with pulmonary hypertension (PH) has been suggested in recent investigations. In the present study, we aimed to show the prevalence of IR and its correlation with haemodynamic variables as well as its prognostic significance in this group of patients. Methods and results Among 100 new and returning patients with PH, scheduled for right heart catheterization (RHC), 59 non‐diabetic patients were enrolled. The homeostasis model assessment of insulin resistance (HOMA‐IR) was used to assess IR. The study population were followed up for a median (interquartile range) of 48 (23–48) months for all‐cause mortalities. Most of the study population [mean (standard deviation) age of 45.9 (17.3)] were classified as class I of PH classification (47.5%). Overall, 27% of our study population had IR considering the Iranian cut points of HOMA‐IR. The prevalence of IR in non‐diabetic, non‐metabolic syndrome patients with precapillary PH (PAH) was 34.2%, which was higher than the prevalence of IR in non‐diabetic, non‐metabolic syndrome Iranian population (24.1%). There was no difference between IR and insulin sensitive (IS) groups regarding demographic and clinical findings, 6 min walk test, and laboratory and haemodynamic data in univariable and multivariable analyses. The mortality rate in the follow‐up period was 44.1%. The survival of patient with IR was slightly lower than IS patients; however, IR was not an independent predictor of death. Conclusions The glucose metabolism is dysregulated in patients with PH, and IR may increase the risk of adverse events among these patients.

Background: CHD influences many aspects of life in affected individuals. Puberty, a major aspect of development, is a concern for patients and families. Objectives: We investigated pubertal status in children and adolescents with CHD. Methods: Patients with CHD aged 6–18 were enrolled. Cardiac diagnoses were confirmed using history, examination, and paraclinical tools including echocardiography. An endocrinologist determined pubertal stages, and the second Tanner stages for pubarche (P2), thelarche (B2), and gonadarche (G2) were considered as the pubertal onset. A study with a large sample size on pubertal onset in a normal population was used for comparison. Results: Totally, 451 patients (228 girls and 223 boys) at a median (10th–90th percentile) age of 10.79 (8.02–14.28) years for the girls and 10.72 (8.05–14.03) years for the boys were enrolled. The median (10th–90th percentile) ages at B2 and P2 in the girls with CHD were 10.77 (9.55–12.68) and 10.53 (9.39–12.28) years, respectively, which were higher than the median ages of 9.74 (8.23–11.94) and 10.49 (8.86–12.17) years in the normal girls. The median (10th–90th percentile) ages at G2 and P2 in the boys with CHD were 11.04 (8.85–13.23) and 11.88 (9.78–13.46) years, correspondingly, which were higher than the median ages of 9.01 (6.00–11.84) and 10.34 (6.84–13.10) years in the normal boys. Conclusions: Pubertal onset could be delayed in children with CHD when compared with the normal population.

Background: Metabolic syndrome (MetS) criteria are different but interconnected cardiovascular risk factors, including dysglycemia, hypertension, abdominal obesity, and dyslipidemia. Objectives: We aimed to determine the prevalence of MetS, its components, and related factors in the south coastal area of Iran, Bandare-Kong non-communicable diseases (BKNCD). Methods: This population-based study was performed on the baseline data from participants of BKNCD, which has recruited participants from Bandare Kong city, one of the 18 distinct geographical areas included in the prospective epidemiological research studies in Iran (Persian). MetS was diagnosed based on the National Cholesterol Education Program (NCEP) criteria and the Iranian-specific cut-off for waist circumference (≥ 95 cm). The socioeconomic status (SES) was estimated by multiple correspondence analysis (MCA) based on participants’ different properties. Results: Of 3,927 participants included in this study, 2,230 (56.8%) were female. Age-standardized prevalence of MetS was 34.5%. The most common MetS component was central obesity (45.1%), followed by decreased high-density lipoprotein (42.6%), elevated fasting plasma glucose (39.9%), elevated triglyceride (37.7%), and increased blood pressure (37.5%). Besides, 84.7% of the subjects displayed at least one component of MetS. Binary logistic regression analysis revealed that women aged 65 - 70 years were at higher risk of having MetS compared to those aged 35 - 39 years (aOR = 12.37, 95% CI 7.54 - 20.30, P < 0.001). Also, living in rural areas was a risk for MetS in women (aOR = 1.55, 95% CI 1.18 - 2.03, P = 0.002). Employment and education were protective against MetS in women. Being overweight significantly increased the risk of MetS in both men and women. Obesity was more problematic for men (aOR = 16.66, 95% CI 11.65 - 23.81, P < 0.001) compared to women (aOR = 10.43, 95% CI 7.82 - 13.90, P < 0.001). Marital status, education, smoking status, and SES did not significantly predict MetS in men. Conclusions: A high prevalence of MetS was observed in this study, emphasizing central obesity, high TG, and low HDL. This calls on the government authorities to establish screening programs to identify individuals with a lower number of abnormal MetS components to prevent them from developing MetS and the resultant cardiovascular complications.