A third of patients with paraganglial tumors, pheochromocytoma, and paraganglioma, carry germline mutations in one of the susceptibility genes, RET, VHL, NF1, SDHAF2, SDHA, SDHB, SDHC, SDHD, TMEM127, and MAX. Despite increasing importance, data for long-term prognosis are scarce in pediatric presentations. The European-American-PheochromocytomaParaganglioma-Registry, with a total of 2001 patients with confirmed paraganglial tumors, was the platform for this study. Molecular genetic and phenotypic classification and assessment of gene-specific long-term outcome with second and/or malignant paraganglial tumors and life expectancy were performed in patients diagnosed at !18 years. Of 177 eligible registrants, 80% had mutations, 49% VHL, 15% SDHB, 10% SDHD, 4% NF1, and one patient each in RET, SDHA, and SDHC. A second primary paraganglial tumor developed in

Background: Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women. Depending on the diagnostic criteria applied, it occurs in up to 16.6% of the general female population. Congenital adrenal hyperplasia includes a group of autosomal recessive disorders, the most common of which is non-classical congenital adrenal hyperplasia (NCAH) caused by mutations in the CYP21A2 gene. PCOS and NCAH have similar clinical manifestations (hyperandrogenemia, i.e., hirsutism, acne, alopecia, and increased androgen levels in the blood) and potential impact on long-term health (infertility, increased risk of type 2 diabetes, and cardiovascular disease. Consequently, it is thought that NCAH mutations in the heterozygous state may play a role in PCOS development and phenotypic expression. Objective: To determine the prevalence of the most common pathogenic alleles of the CYP21A2 gene in adolescents with PCOS and adolescents at risk of PCOS development, and to compare the results with healthy adolescents matched for gynecological age. Methods: A cross-sectional study was conducted with 55 PCOS patients, 23 risk patients (with hyperandrogenism but a normal menstrual cycle), and 49 healthy adolescents. Genetic variations in the CYP21A2 gene were analyzed using a standard Multiplex Ligation-dependent Probe Amplification test (SALSA MLPA Probemix P050-C1 CAH; MRC Holland). Results: No significant differences were found among the three groups regarding the frequency of carriers of NCAH variations in the heterozygous state. It was found that the I172N carrier in the PCOS group had a significantly higher Global Acne Grading Scale score than PCOS patients without this variation (p = 0.038). Within the control group of healthy adolescents, compound heterozygous carriers (IVS2-12A > G and -113G > A) had a significantly higher body mass index than non-carriers (p = 0.036). Conclusion: We found no differences in the incidence of NCAH-causing variations in the heterozygous state in adolescent PCOS patients, risk adolescents (with hirsutism but normal menstruation), and healthy adolescents. Future studies of larger cohorts and rarer pathogenic CYP21A2 gene variations are required.

Background: Polycystic ovary syndrome (PCOS) affects 3-8% of adolescents. It is characterized by hyperandrogenism and oligoovulation/anovulation. PCOS has a negative impact on health-related quality of life (HRQoL). However, the extents to which factors influence total HRQoL of adolescents are not known. Adult PCOS patients have a higher incidence of binge eating than the general reproductiveage female population. Limited data on binge eating in adolescents with PCOS are available. Aim of this study was to investigate how PCOS and its associated factors, including binge eating, affect the HRQoL of adolescent girls. Methods: This case-control study recruited 63 adolescent girls 13-18 years of age with PCOS and 66 age-matched healthy controls. The PCOS health-related quality of life questionnaire (PCOSQ) and Binge Eating Scale (BES) were used. Multiple linear regression was executed to establish exact predictors and their effect on total HRQoL. Results: HRQoL was significantly lower in adolescents with PCOS than controls (4.9 (interquartile range (IQR) 1.5) vs. 5.8 (IQR 0.9) points). The lowest scores were found in the body hair and weight domains. BES results were not significantly higher in the PCOS group than in the control group (p = 0.727). The main predictors for total HRQoL were PCOS diagnosis per se (β = -1.002; p < 0.001), BES score (β = -0.27; p = 0.004) and body mass index (BMI) percentile (β = -0.007; p = 0.013). Conclusions:The lower HRQoL in adolescents with PCOS is attributable to the diagnosis of PCOS, BES score and BMI percentile, confirming the importance of tailoring clinical interventions and counselling to address the domains (i.e., symptoms of hirsutism and weight concerns) causing distress and lowering HRQoL. Further implementation research is required to evaluate the impact of targeted interventions on the HRQoL of adolescent girls with PCOS.

Background and objectives: The efficacy of a weight correction programme can be affected by such predictors as the number of contact hours, gender, age, baseline weight, parental weight status, psycho-emotional status, insulin resistance, and socioeconomic status. The aim of this current study was to evaluate the overall efficacy of the Weight Correction Programme at Children’s Clinical University Hospital, and explore the impact of the probable predictors. We evaluated the efficacy depending on gender, age, parental weight status, signs of depression, baseline body mass index z-score (z-BMI), and baseline waist circumference. Materials and Methods: The data were gathered from medical records. The inclusion criteria were as follows: Entered the programme by 13 June 2017, at least five years old, follow-up data available. All the respondents were divided into two age groups: <10 years old and ≥10 years old. Results: The study included 181 respondents. They were 5 to 17 years old on the first day of participation in the Weight Correction Programme. Results indicated that 117 (65%) patients managed to reduce z-BMI and 69 (38%) patients achieved clinically significant reduction of z-BMI. Boys had four times higher odds (odds ratio (OR) = 4,22; CI 1.37–13.05; p = 0.012) to reduce their z-BMI by at least 0.20 units than girls. The respondents of the older age group (≥10 years) had a better chance to reduce z-BMI than the younger ones (OR = 11,51; CI 2.04–64.83; p = 0.006). The odds to reduce z-BMI were lower by 7% for every extra cm of waist circumference (OR = 0.93; CI 0.88–0.99; p = 0.014) for reducing z-BMI. The follow-up time was also a positive predictor, and with every month the odds for clinically significant z-BMI reduction increased by 7% (OR = 1.07; CI 1.00–1.15; p = 0.047). The parental weight status, signs of depression, and baseline z-BMI were not significant predictors. Conclusions: More than half of the patients of the respondents managed to reduce their z-BMI. Female gender, younger age, and larger waist circumference were negative predictors.