NUTRITIONAL HABITS, COMPLIANCE WITH HEALTHY DIET AND INSULIN THERAPY, DEPRESSION AND FAMILY FUNCTIONALITY IN CHILDREN WITH TYPE 1 DIABETES MELLITUS DURING THE COVID-19 PANDEMIC PERIOD.

Context: The relationship between life changes and glycemic control in children with type 1 diabetes during the pandemic period was examined. Objective: We aimed to investigate the effect of the pandemic period on 66 children (aged 5-18 years) with type 1 diabetes using scales evaluating family functionality, nutritional habits, adherence to treatment and depression status. Design: It is a cross-sectional clinical and laboratory study using certain scales for its descriptive features. Subjects and Methods: Demographic characteristics, anthropometric measurements, laboratory investigations were evaluated. Family functionality of the patients were evaluated with Smilkstein's family APGAR scale, motivation and knowledge levels were evaluated with the 6-item Morisky medication adherence scale (MMAS-6), nutritional habits were evaluated with the Mediterranean diet quality index (KIDMED), and depression status was evaluated with the children depression inventory (CDI). Results: The mean HbA1c level increased significantly in the first year of the pandemic compared to the onset of the pandemic period (8.5% vs. 8.9%, p: 0.003). In the responses to these scales, children with diabetes have high family functionality (89.4%), high motivation (90.9%) and high knowledge level about adherence to treatment (97%). Furthermore, healthy eating habits (high KIDMED index scores 92.4%), and low degree of depression score (95.5%) have been observed. We detected a statistically significant positive correlation between HbA1c and CDI scores (r: 0.27; p: 0.02), and a negative correlation between HbA1c and MMAS-6 motivation score (r: -0.30; p: 0.01). Conclusions: In this study, the effect of motivation and mood changes on glycemic control was more clearly demonstrated.

TWO OPPOSITE PHENOTYPES OF GLUCOSE DISORDERS IN A FAMILY WITH HETEROZYGOUS P.SER453LEU (C.1358C> T) MUTATION IN THE GLUCOKINASE (GCK) GENE: MATURITY ONSET DIABETES IN YOUNG AND INSULINOMA.

Background: Heterozygous gain-of-function mutations in the glucokinase (GCK) gene cause hyperinsulinaemic hypoglycaemia (GCK-HI), while loss-of-function mutations lead to a monogenic type of diabetes (GCK-MODY). We, herein, report a heterozygous GCK gene mutation in a large family with GCK-MODY and insulinoma in one individual from the same family. Patients and methods: The proband, an 11-year-old male, was referred for asymptomatic mild hyperglycemia (fasting glucose:121 mg/dL) and HbA1c of 6.1%. Segregation analysis of the family revealed multiplex members with asymptomatic fasting hyperglycaemia or non-insulin-dependent diabetes and 33-year-old maternal uncle of the proband case had a history of distal pancreatectomy due to the diagnosis of insulinoma. His preoperative investigations were revealed fasting glucose of 31 mg/dL, insulin: 7µU/mL, C-peptide: 2.6 mg/dL, and a low HbA1c(4.0%) which was suggestive for recurring hypoglycaemia episodes. Post-pancreatectomy he developed mild fasting hyperglycemia (115-136 mg/dL). Results: Genetic analysis revealed heterozygous p.Ser453Leu(c.1358C> T) mutation in the GCK gene in the proband. In segregation analysis, the identical heterozygous p.Ser453Leu(c.1358C> T) GCK gene mutation was detected in all of the other affected family members for whom a DNA analysis was applicable. The maternal uncle was first diagnosed with insulinoma and underwent a pancreatectomy. He also had an identical mutation in a heterozygous state. Conclusion: We, to the best of our knowledge, firstly identified these two entirely distinct phenotypes of glucose metabolism, GCK-MODY and GCK-HI, due to an identical heterozygous p.Ser453Leu (c.1358C> T) mutation in the GCK. Further studies required to elucidate this new phenomenon and understanding the genotype-phenotype relationship of GCK gene mutations.

Evaluation of intraocular pressure and retinal nerve fiber layer, retinal ganglion cell, central macular thickness, and choroidal thickness using optical coherence tomography in obese children and healthy controls.

OBJECTIVE: Obesity affects many organ systems. There have been few studies on the ophthalmological effects of obesity. The aim of the present study was to evaluate the changes in the ophthalmological parameters in obese children. SUBJECTS AND METHODS: The study included 61 obese and 35 age-and gender-matched control subjects. Obesity was defined as body mass index-standard deviation score (BMI-SDS) >2 SD. Children with a BMI-SDS between >-1 SD and <+1 SD whilst otherwise healthy were recruited as the control group. All clinical and ophthalmological investigations were performed by a pediatric endocrinologist and an experienced ophthalmologist. The ophthalmological examination and intraocular pressure (IOP) measurement was performed. The average retinal fiber layer (RNFL), retinal ganglion cell (RGC), central macular thickness (CMT), cup-to-disk ratio (C/D), and central choroidal thickness (CT) were measured using spectral domain optical coherence tomography. The anthropometric, biochemical, and ophthalmological parameters of the obese and control subjects were compared. RESULTS: IOP was higher in the obese group compared to the control group (P = 0.008), whereas the average RNFL was lower in the obese group (P = 0.035). There was a negative correlation between the average RNFL and BMI-SDS (P = -0.044) and waist-hip ratio (P = 0.015). There was no statistically significant difference between the RGC, C/D, CMT, and CT of the obese and control groups. IOP was negatively correlated with HOMA-IR, body fat mass, body fat percentage, and diastolic blood pressure. CONCLUSION: In the present study, which evaluated obesity and its effects on ophthalmological parameters, the elevated IOP and decreased RNFL thickness detected in the obese group may suggest an increased risk for these patients of developing glaucoma at a younger age. Therefore, regular ophthalmological examinations of obese children are essential for prompt diagnosis and appropriate management.

Anemia and neutropenic fever with high dose diazoxide treatment in a case with hyperinsulinism due to Munchausen by proxy.

BACKGROUND: The etiology of hyperinsulinemic hypoglycemia in adolescents is similar to that of adults. Patients resistant to medical treatment may undergo pancreatectomy. Diazoxide is the mainstay of medical treatment. Rarely bone marrow suppression is reported due to diazoxide. PATIENT: An adolescent with severe hyperinsulinemic hypoglycemia was referred for pancreatectomy after she was treated with high doses of diazoxide, octreotide and glucose. She developed anemia and febrile neutropenia in the course of diazoxide treatment that resolved with cessation of medication. The cause of the hyperinsulinemia proved to be classical Munchausen by proxy. CONCLUSION: This is the first report of bone marrow suppression involving erythroid series by diazoxide. Follow-up of blood count may be considered in patients on high dosages since anemia may be dose dependent. Munchausen by proxy poses a serious threat to children with significant morbidity and mortality. Awareness and a high index of suspicion in clinical settings with unusual causes are the mainstay for the diagnosis.

Assessment of thyroid function during the long course of Hashimoto's thyroiditis in children and adolescents.

CONTEXT: The prognosis of Hashimoto's thyroiditis (HT) in children and adolescents is not well known and studies reporting long-term outcome of the disease are scarce. OBJECTIVE: To assess the thyroid hormone status during long-term follow-up and to establish the prognosis of children and adolescents with HT. PATIENTS: One hundred and twenty-nine patients with HT were re-evaluated for thyroid hormone status after a mean follow-up period of 50 months. RESULTS: Seventy-seven per cent of the euthyroid patients were still euthyroid, while 21.1% of these patients became hypothyroid at the time of re-evaluation. However, 69.5% of hypothyroid patients remained hypothyroid (overt or subclinical) and 30.5% recovered. CONCLUSION: HT is a dynamic process. Thyroid functions can show variation during follow-up. Therefore, thyroid function tests should be repeated periodically to detect progression to hypothyroidism in initially euthyroid patients as well as reversibility of hypothyroidism.

Hashimoto's thyroiditis in children and adolescents: a retrospective study on clinical, epidemiological and laboratory properties of the disease.

UNLABELLED: Hashimoto's thyroiditis (HT) is the most common cause of goiter and acquired hypothyroidism in children and adolescents in iodine replete areas. To find out the clinical, epidemiological and laboratory characteristics of the disease in childhood, we reviewed files of 162 children and adolescents with HT followed in the Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine. RESULTS: Female patients constituted 86.4% (n = 140) of all patients with a female:male ratio of 6.4. Mean age at diagnosis was 11.4 +/- 2.97 years (age range 4.4-16.5 years). At the time of diagnosis 43.2% of the patients (n = 70) were euthyroid, 24.1% (n = 39) had subclinical hypothyroidism, 21% (n = 34) had overt hypothyroidism, and 8.6% (n = 14) had overt and 3.1% (n = 5) subclinical hyperthyroidism. CONCLUSIONS: Autoimmune thyroiditis is more frequent in females, and increases in frequency over age during childhood and adolescence. At the time of diagnosis, frequency of overt and subclinical hypothyroidism is similar to that of euthyroid goiter.