Clinical and Laboratory Characteristics of Hyperprolactinemia in Children and Adolescents: National Survey

Conclusion: We present the largest cohort of children and adolescents with hyperprolactinemia in the literature to date. Hyperprolactinemia is more common in females and cabergoline is highly effective and practical to use in adolescents, due to its biweekly dosing. Indications for surgery in pediatric cases need to be revised

Effect of Telehealth System on Glycemic Control in Children and Adolescents with Type 1 Diabetes

Objective: A close diabetes team-patient relationship is required for establishing satisfactory metabolic control. The purpose of this study was to investigate the effect of a telehealth system on diabetes control. Methods: The study was carried out between June 2015 and January 2016 at the Gazi University Faculty of Medicine, Pediatric Endocrinology Department. The telehealth system was developed by the diabetes team. The demographic characteristics, frequency of use and hemoglobin A1c (HbA1c) changes of type 1 diabetic (T1DM) patients using this communication network were analysed. Results: Eighty two patients {[}43 (52.4\%) females, mean (+/- standard deviation) age 10.89 +/- 4 years] used the telehealth system. Fourteen (17.1 \%) of the cases were on pump therapy and 59 (72.0 \%) were counting carbohydrates. The individuals with diabetes or their families preferred WhatsApp communication. Whatsapp provided a means for instant messaging in most instances (57.3 \%), contact with diabetes education nurse (32.9\%) and consultation with the diabetes team about insulin doses and blood glucose regulation (42.7 \%). HbA1c values after six months were significantly lower in patients/parents calling frequently (p <0.001) compared with HbA1c values recorded at the beginning of the study. Conclusion: Increase in frequency of counselling by the diabetes team led to improved blood glucose control in T1DM patients. A telehealth system is useful for early detection of the need for changes in treatment and for intervention. It also promoted better self care

Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height

WOS: 000408795100008PubMed ID: 28672743Background: The clinical, laboratory, genetic properties and final height of a large cohort of patients with nonclassical 21-hydroxylase deficiency (NC21OHD) in Turkey were analyzed. Methods: This multicenter, nationwide web-based study collected data. Results: The mean age was 9.79 +/- 4.35 years (229 girls, 29 boys). The most common symptoms were premature pubarche (54.6%) and hirsutism (28.6%). The peak cortisol was found below 18 mu g/dL in three (15.45%) patients. A mutation was detected in the CYP21A2 gene of 182 (87.5%) patients. The most common mutation was V281L. Final height in female patients who were diagnosed and treated before attaining final height or near final height was found to be shorter than the final height in female patients who were diagnosed after attaining final height or near final height. Conclusions: The final height of the patients who were treated during childhood was found to be shorter than the final height of patients during the adolescent period

Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children

Objective: Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was to determine the clinical and laboratory features, the admission characteristics and distribution of monogenic form of diabetes in childhood in Turkey. Methods: Patients aged 0-18 years, who were molecularly diagnosed with monogenic diabetes, and consented to participate, were included in the study. Results: Seventy-seven (45.6%) female and 92 male cases with a mean age of 8.18 +/- 5.05 years at diagnosis were included. 52.7% of the cases were diagnosed with monogenic diabetes by random blood glucose measurement. The reason for genetic analysis in 95 (56.2%) of cases was having a family member diagnosed with diabetes under the age of 25. At the time of diagnosis, ketone was detected in urine in 16.6% of the cases. Mean hemoglobin A1c on admission, fasting blood glucose, fasting insulin, and c-peptide values were 7.3 +/- 2.1%, 184.9 +/- 128.9 mg/dL, 9.4 +/- 22.9 IU/L, 1.36 +/- 1.1 and ng/L respectively. GCK-MODY was found in 100 (59.2%), HNF1A-MODY in 31 (18.3%), and variants in ABCC8 in 6 (3.6%), KCNJ11 in 5 (3%), HNF4A in 2 (1.2%), and HNF1B in 2 (1.2%). Conclusion: Recent studies have indicated HNF1A-MODY is the most frequent of all the MODY-monogenic diabetes cases in the literature (50%), while GCK-MODY is the second most frequent (32%). In contrast to these reports, in our study, the most common form was GCK-MODY while less than 20% of cases were diagnosed with HNF1A-MODY