Turner syndrome (TS) is a common genetic disorder caused by abnormalities of the X chromosome. We aimed to describe the phenotypic characteristics of TS patients and evaluate their association with presenting clinical characteristics and time at diagnosis. We studied females diagnosed with TS at King Abdul Aziz Medical City (KAMC), Riyadh between 1983 and 2010. Patients were classified based upon karyotype into females with classical monosomy 45,X (group A) and females with other X chromosome abnormalities (mosaic 45,X/46,XX, Xqisochromosomes, Xp or Xq deletion) (group B). Clinical features of the two groups were analyzed. Of the 52 patients included in the study, 16(30.8%) were diagnosed with classical monosomy 45,X and the rest with other X chromosome abnormalities. Only 19(36.5%) patients were diagnosed in infancy and the remaining during childhood or later (odds ratio (OR) = 4.5,95%CI 1.27-15.90, p=0.02). Short stature was universal in group A versus 77.8% in group B. All patients in group A had primary amenorrhea compared with 63.2% of those in group B (P = 0.04); the rest of group B had secondary amenorrhea. Cardiovascular abnormalities were higher in group A (OR=3.50, 95%CI 0.99-12.29, p-value =0.05). Renal defects and recurrent otitis media were similar in both groups. This study suggests that karyotype variations might affect the phenotype of TS; however, it may not reliably predict the clinical presentation. Chromosomal analysis for all suspected cases of TS should be promptly done at childhood in order to design an appropriate management plan early in life.

To assess the effect of education and economic status of parents on obesity in children. A cross-sectional survey was conducted in 2006 among school children in Riyadh, Saudi Arabia. A representative sample of 1243 (542 male and 701 female) children aged 6-16 years were contacted using multistage cluster sampling strategy. Social and demographic variables were collected using questionnaires completed by parents. Height and weight of the children were recorded by a trained team. The mean body mass index for all children was 19.8±5.4. The prevalence rates of overweight and obesity were 21.1% and 12.7%, respectively. Overweight and obesity were more prevalent in males than in females. By multivariate analysis, children were more likely to be overweight if they were male (OR=0.6, p<0.01), 12 years of age (OR=3.79, p<0.01, compared to age 6 years), and if their families had higher income (OR=3.12, p<0.01, compared to families with low income). Being male (OR=0.545, p<0.01), aged 12 years (OR=3.9, p=0.005, compared to the age of 6), and having a mother who is more educated were determined to be significant risk factors for obesity in children. Mothers educated at university level were found to have a three-fold higher risk of having obese children(OR=3.4, p<0.01, compared to mothers with lower education levels). Overweight and obesity among Saudi children is associated with educated mothers and higher family income. This finding calls for introducing interventions in health education for both children and parents.

Background: Congenital Adrenal Hyperplasia (CAH) is a chronic disease that requires lifelong treatment. Patients may face stigmatization, which may affect their quality of life (QoL). Therefore, we assessed the clinical characteristics and QoL of patients with CAH in the Middle East.Methods: This case-control study included patients with CAH aged >5 years from two tertiary centers (2020–2021). The patients were matched to a healthy control group and were then divided into pediatric and adult groups. Data were collected from their electronic medical records. Additionally, the EQ-5D-5L QoL questionnaire was completed by both the patients and control group to assess five domains (mobility, self-care, usual activities, pain/discomfort, and anxiety/depression).Results: The study included 248 patients with CAH (females: 58.8%), with a family history of the condition (57.3%) and/or parental consanguinity (68.1%). The most frequently reported gene defect was CYP21A2, while the most commonly reported symptoms/signs were ambiguous genitalia and obesity. Almost all female patients had received corrective surgery. The questionnaire response rate was 86.3% (n=214/248). The CAH patient group’s mean total QoL score was 85.2 compared with 99.8 in the control. Further, CAH patients had lower QoL scores in all domains compared to those in the control group (p ≤ 0.0001–0.0023). The pain/discomfort and anxiety/depression domains were affected significantly more than the other domains were, with 47.7% and 44.4% participants, respectively, p<0.0001. Additionally, obesity was found to be a predictor of reduced mobility following a logistic regression analysis (p ≤ 0.04, OR (0.18-0.98)).Conclusion: Patients with CAH reported lower QoL overall, particularly in the pain/discomfort and anxiety/depression domains. Based on this, we recommend the early involvement of psychologists in a multidisciplinary team approach, pre-marital screening, and the implementation of awareness programs for people diagnosed with CAH in communities with high consanguineous mating.

The College of Medicine at King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) is running a PBL-based curriculum. A progress test was used to evaluate components of the basic medical and clinical sciences curriculum. To evaluate the performance of students at different levels of the college of medicine curriculum through USMLE-based test that focused on basic medical and clinical sciences topics. The USMLE-based basic medical and clinical sciences progress test has been conducted since 2007. It covers nine topics, including: anatomy; physiology; histology; epidemiology; biochemistry; behavioral sciences, pathology, pharmacology and immunology/microbiology. Here we analyzed results of three consecutive years of all students in years 1-4. There was a good correlation between progress test results and students' GPA. Progress test results in the clinical topics were better than basic medical sciences. In basic medical sciences, results of pharmacology, biochemistry, behavioral sciences and histology gave lower results than the other disciplines. Results of our progress test proved to be a useful indicator for both basic medical sciences and clinical sciences curriculum. Results are being utilized to help in modifying our curriculum.

To determine factors associated with pubertal gynecomastia. A cross-sectional study among healthy male school children and adolescents in Riyadh, Saudi Arabia. Subjects were selected from diverse socioeconomic backgrounds. Tanner stage, height, weight, blood hormonal levels (leutilizing hormone [LH], follicle-stimulating hormone [FSH], total testosterone, and estradiol), and anthropometric and lipid parameters (body mass index [BMI], triglycerides, high-density lipoprotein [HDL], and low-density lipoprotein [LDL]), were collected and compared in children with and without gynecomastia. The study included 542 children and adolescents. Median (interquartile range) age in the whole group was 11(8-13) years. The prevalence of gynecomastia was 185/542 (34%), with a peak at age 14. The 2 groups compared had nonsignificant difference in cholesterol (P=.331), LH (P=.215) and FSH (P=.571) levels. Those with gynecomastia were significantly older, had lower gonad stage, had higher anthropometric (height, weight, and BMI), and lipid (triglycerides, HDL, and LDL) values. In multivariate regression analysis, factors significantly associated with gynecomastia were BMI (odds ratio [OR]=1.05; 95%CI 1.00-1.10; P=.013), HDL (OR=0.42; 95%CI 0.19-0.92; P=.03), and gonad (Stage II OR=2.23; 95%CI 1.27-3.92; P=.005, Stage III OR=6.40; 95%CI 2.70-15.0; P < .0001, Stage IV OR=3.24; 95%CI 1.32-7.95; P=.01, Stage V OR=1.37; 95%CI 0.52-3.56; P=.53, compared with stage I). Pubertal gynecomastia tends to increase in mid-puberty. In our setting, BMI, HDL, and gonad stage were the major factors associated with the development of pubertal gynecomastia.

To estimate age at menarche and to assess trends in menarcheal age among Saudi women. A prospective longitudinal study was conducted among healthy prepubertal female school children and adolescents from September 2006 to July 2012 in Riyadh, Kingdom of Saudi Arabia. Study participants were invited from diverse socioeconomic backgrounds. Tanner stage, height, weight, body mass index, and socioeconomic parameters including parent's level of education were collected. Age at menarche was compared with maternal age at menarche. The study included 265 girls and mothers. Mean±standard deviation (SD) age at menarche for girls was 13.08 ± 1.1 years, and their distribution category across the ≤10 years was 4 (1.5%), 11-14 years was 239 (90.2%), and ≥15 years was 22 (8.3%) girls. Anthropometric measurements, mother's level of education, and family income were not statistically significant determining factors associated with age at menarche. Mean ± SD age at menarche for mothers was 13.67 ± 1.4 years, and their distribution category across the ≤10 years was 7 (2.6%), 11-14 years was 172 (64.9%), and ≥15 years was 86 (32.5%). Girls attained menarche at younger age compared with their mothers (p less than 0.0001). A downward secular trend in age of menarche was observed (Cuzick test for trend = 0.049). Saudi girls attain menarcheal age earlier than their mothers, reflecting a downward secular trend in menarcheal age.