Early Onset Inflammatory Bowel Disease Due to Immunodeficiency as a Result of ICOS Gene Homozygous Mutation.

INTRODUCTION: Inflammatory bowel disease (IBD) is classified as very early-onset IBD (VEO-IBD) if it occurs before age six. VEO-IBD may progress with more severe and resistant inflammation findings in the gastrointestinal and non-gastrointestinal systems. CASE REPORT: We describe the clinical presentation of a 4-year-old female presenting with recurring episodes of bloody diarrhea, vomiting, abdominal pain, fever, arthritis, erysipelas, and bilateral ankle pain. Monogenic primary immunodeficiency (PID) was suspected due to her age, different clinical findings and the presence of atypical gastroscopic findings and deep transmural ulcerations resembling Crohn's disease. The gene analysis showed a homozygous mutation in the inducible T cell co-stimulator (ICOS) deficiency genes. DISCUSSION/CONCLUSION: This case presentation shares our clinical experience and demonstrates the link between IBD progression and ICOS deficiency.

The evaluation of non-alcoholic fatty liver disease in children with obesity with vibration-controlled transient elastography.

INTRODUCTION: Parallel to the worldwide increase in obesity, the epidemic of chronic liver disease is increasing also in pediatric population. Our aim is to provide a different outlook on the current screening confusion in pediatric non-alcoholic fatty liver disease (NAFLD) with the non-invasive vibration-controlled transient elastography (VCTE) method. MATERIALS AND METHODS: This single-center, cross-sectional, comparative study was performed at the tertiary center, included 95 patients with obesity and 116 controls, both groups were 9-18 years of ages. VCTE examinations performed in all patients. The cut-off values for controlled attenuation parameter (CAP) and liver stiffness measurement (LSM) were established by comparing the study and control groups. RESULTS: The cut-off for CAP was determined as >236 dB/m when comparing the two groups. The AUC was 0.900 (95% CI, 0.851-0.937) and the diagnostic accuracy was 77.9% and 91.4% for sensitivity and specificity, respectively. The cut-off value for LSM >5 kPa was determined by comparison of the two groups. The AUC was 0.794 (95% CI, 0.733-0.846) and the diagnostic accuracies were 50.5% and 90.5% for sensitivity and specificity, respectively. CONCLUSIONS: There is no benchmark method for screening pediatric NAFLD. However, VCTE is a promising method for screening pediatric NAFLD. It is accessible, repeatable and practical.

Relationship between nonalcoholic fatty liver disease and hyperandrogenemia in adolescents with polycystic ovary syndrome.

BACKGROUND: Nonalcoholic fatty liver disease (NAFLD) is common in adults with polycystic ovary syndrome (PCOS), and several studies on adults have investigated its influencing factors. However, factors associated with NAFLD in adolescents with PCOS remain unknown. PURPOSE: This study aimed to investigate the presence of NAFLD in adolescents with PCOS using the noninvasive methods of vibration-controlled transient elastography (VCTE) and ultrasonography (USG), along with assessing NAFLD-related metabolic and hormonal risk factors. METHODS: This study included patients aged 12-18 years who were diagnosed with PCOS according to the Rotterdam criteria. The control group included young women with similar age and body mass index (BMI) z scores, who had menstruated regularly for more than 2 years. Patients with PCOS were divided into hyperandrogenemia and nonhyperandrogenemia groups based on serum androgen level. USG was performed on all patients to evaluate the presence of hepatic steatosis. Liver stiffness measurement (LSM) and controlled attenuation parameter (CAP) were assessed using VCTE (Fibroscan). Clinical, laboratory, and radiological data were compared between groups. RESULTS: This study included 124 adolescent girls aged 12-18 years (61 with PCOS, 63 controls). BMI z scores were similar between groups. Waist circumference and total cholesterol, triglyceride, and alanine aminotransferase levels were higher in the PCOS versus the control group. The presence of hepatic steatosis on USG was similar between groups. However, the rate of hepatic steatosis on USG was higher in patients with hyperandrogenic PCOS (P=0.01). LSM and CAP measurements were similar between groups. CONCLUSION: No increase in prevalence of NAFLD was observed among adolescents with PCOS. However, hyperandrogenemia is a risk factor for NAFLD. Therefore, adolescents with PCOS and elevated androgen level should be screened for NAFLD.