Band 36, Heft 5

Objectives The Internet, an integral part of modern life, can lead to internet addiction, which negatively affects academic performance, family relationships, and emotional development. This study aimed to evaluate the Internet addiction scores (IAS) during COVID-19 in children with type 1 diabetes mellitus (T1DM) compared with healthy controls. Methods Children with T1DM and healthy controls aged 8–18, were evaluated with the Parent–Child Internet Addiction Test (PCIAT20). Internet addiction scores of the participants were assessed. The relationship between diabetes duration, mean HbA 1c level and IAS were also examined in children with T1DM. Results The study included 139 patients with T1DM and 273 controls. The IAS were significantly lower in patients compared with controls (25.28 ± 15.52 vs. 29.69 ± 19.08, p=0.019). There was a weak negative correlation between the duration of diabetes and IAS in children with diabetes (r=−0.21, p=0.021). There was no significant association between IAS and mean HbA 1c (r=0.14, p=0.128) or age (r=0.08, p=0.115). Furthermore, there was no statistically significant difference in IAS between children with well-controlled diabetes (n=17) and those with poorly-controlled diabetes (n=122) (IAS: 27.1 ± 17.2; 24.8 ± 15.5, p=0.672, respectively). Conclusions Internet addiction scores were lower in patients with T1DM compared with their healthy peers. Unlike previous studies reporting an increase in problematic internet use, the results of the present study did not confirm internet use as a real challenge in front of the diabetes management for the majority of children with T1DM. This result may be attributed to the important role played by families in the management of T1DM.

Objectives Polycystic ovary syndrome (PCOS) increases non-alcoholic fatty liver disease (NAFLD) risk and severity in adults, but data in adolescents with diverse backgrounds are limited. We evaluated NAFLD prevalence and characterized NAFLD risk factors in overweight/obese adolescents by PCOS status. Methods Retrospective study of overweight (n=52)/obese (n=271) female adolescents (12–18 years old), evaluated clinically 2012–2020, was conducted comparing PCOS patients to age-matched non-PCOS controls. NAFLD was defined as ALT≥44U/L x2 and/or ≥80U/L x1, hepatic steatosis on imaging, or NAFLD on biopsy, in absence of other liver disease. Metabolic comorbidities were captured. Log-binomial regression models estimated prevalence risk ratios (PR). Results NAFLD prevalence was 19.1 % in adolescents with PCOS (n=161), similar to those without (n=162) (16.8 %, p=0.6). Adolescents with PCOS were more likely to have insulin resistance, hypercholesterolemia, and higher triglycerides (p<0.05). Those with PCOS and concomitant type 2 diabetes (T2DM) did have increased NAFLD risk (PR 2.5, p=0.04), but those with PCOS without T2DM did not (PR 0.9, p=0.8). Adolescents with PCOS and NAFLD, compared to those with PCOS without NAFLD, had a higher prevalence of metabolic comorbidities including hypercholesterolemia (77 vs. 48 %), T2DM (29 vs. 8 %), and hypertriglyceridemia (65 vs. 37 %) (p<0.01). Conclusions Almost 1 in 5 overweight/obese female adolescents had NAFLD, but PCOS did not increase NAFLD risk in this diverse cohort. Among young women with PCOS, concomitant T2DM did increase the risk for NAFLD. Closer monitoring of obesity comorbidities in adolescents with PCOS is essential for optimizing health and merits updating current guidelines.

Objectives Few studies addressed the efficacy of human insulin regimens (mostly premix insulin) used in many low-and-middle income countries on glycemic control of children and adolescents with diabetes. The aim of this study was to assess the efficacy of the premix insulin on the glycated hemoglobin (HbA 1c ) in comparison to the regular with NPH insulin scheme. Methods A retrospective study was carried out from January 2020 to September 2022 on patients with type 1 diabetes aged below 18 years followed in Burkina Life For A Child program. They were categorized into three groups, on regular with NPH insulin (Group A), on premix insulin (Group B) and on regular with premix insulin (Group C). Outcome was analyzed based on HbA 1c level. Results Sixty-eight patients with a mean age of 15.38 ± 2.26 years and the sex ratio (M/W) 0.94 were studied. There were 14 in Group A, 20 in Group B, and 34 patients in Group C. The mean HbA 1c value in the corresponding insulin regimen was 12.8 ± 1.39%, 9.87 ± 2.18%, and 10.66 ± 2.1%, respectively. Glycemic control was better in Groups B and C than Group A (p<0.05) but there was no difference between groups B and C. Conclusions Our results indicate that the use of premix insulin gives a better glycemic control than NPH insulin. However, further prospective study of these insulin regimens with a strengthening education strategy and glycemic control by continuous glucose monitoring and HbA 1c is required to corroborate these preliminary findings.

Objectives Metabolically healthy obesity (MHO) has been reported with varying frequencies in children. The reasons of metabolically healthy phenotype in some obese subjects are unclear. Our aim was to identify the frequency of MHO in obese subjects, to assess the potential associations of demographic characteristics, serum uric acid, alanine transaminase (ALT), pediatric nonalcoholic fatty liver disease fibsosis score probability (PNFS p) with MHO status and to evaluate the differences between MHO and metabolically unhealthy obesity (MUO) with regard to metabolic syndrome surrogates. Methods 251 consecutive obese subjects (125 females) aged 7–18 years were included. Subjects were classified as having MHO according to Damanhoury’s criteria. Several metabolic variables were measured, PNFS p was calculated by using the formula: z=1.1+(0.34*sqrt(ALT))+ (0.002*ALP)–(1.1*log(platelets)–(0.02*GGT). Results Median age of the subjects was 12.5 yr (range: 7.0–17.0 yr). The frequency of MHO was 41 %. Subjects with MHO were significantly younger, had lower waist circumference (WC) and waist height ratio (WHtR) and lower HOMA-IR than those without MHO(p<0.05 for all). Frequencies of hyperuricemia, hypertransaminasemia, hepatosteatosis and PNFS p values≥8 were similar betwen the groups. When putatively influential factors associated with MHO status were assessed with logistic regression analysis, only WC(β=1.03) and HOMA-IR(β=1.166) emerged as significant factors(Nagelkerke R2=0.142). None of the investigated demographic factors were associated with MHO status. Conclusions We found a remarkably high frequency of MHO status. Nevertheless, the absence of decreased frequencies of hyperuricemia, hypertransaminasemia and PNFS in subjects with MHO may suggest the need to reconsider the validity of the criteria defining MHO.

Objectives Vitamin D deficiency is common in the pediatric group with obesity and is a risk factor for metabolic syndrome. Supplementation of vitamin D may require higher dosing than in normal-weight children. The aim of our study was to investigate the response of supplementation on vitamin D levels and the metabolic profile in youths with obesity. Methods Children and adolescents with obesity (Body mass index >2.3 SDS, age ≤18 years) and hypovitaminosis D (level <20 μg/L) who entered a residential weight-loss program in Belgium, were included during summer. Subjects were randomized: Group 1 received 6,000 IU vitamin D daily for 12 weeks, whereas Group 2 simultaneously participating in the weight-loss program received no supplementation. Differences in vitamin D levels, weight, insulin resistance, lipid patterns, and blood pressure after 12 weeks were assessed. Results A total of 42 subjects (12–18 years) with hypovitaminosis D were included, group 1 (n=22) received supplementation after randomization. After 12 weeks, a median increase in vitamin D levels of 28.2 (24.1–33.0) and 6.7 (4.1–8.4) µg/L was observed in group 1 and group 2, respectively (p-value<0.001), resulting in vitamin D sufficiency in 100 and 60% of subjects. No significant differences in weight loss (p-value 0.695), insulin resistance (p-value 0.078), lipid patterns (p-value 0.438), or blood pressure (p-value 0.511) were observed between both groups after 12 weeks of treatment. Conclusions Supplementation with 6,000 IU vitamin D daily during 12 weeks in children and adolescents with obesity and hypovitaminosis D is safe and sufficient to reach vitamin D sufficiency. However, no positive effects on weight loss, insulin resistance, lipid patterns, or blood pressure were observed.

Objectives Laron dwarfism is a rare genetic disorder first reported among Israeli jewish children, subsequently about 350 cases cases have been reported worldwide. We aim to describe the clinical profile of nine children with Laron dwarfism from Institute of Child Health, Chennai. Methods Analysis of case records from 2010 to 2018. Results Male:female ratio is 6:3. Mean age of the children at the time of diagnosis was 3 years. All children were extremely short, and mean height Z score (SD) was −7.7(0.8). All children had characteristic facies with no hypoglycaemic episodes. Microcephaly was present in four children out of which two had developmental delay. Three out of six boys had micropenis. All children had low insulin like growth factor-1 (IGF-1) and high basal growth hormone (GH) with a mean (SD) of 39.6 (11.2) ng/mL. Conclusions Suspicion of Laron syndrome should be high when child presents with features of Growth Hormone Deficiency (GHD) with extreme stunting.

Objectives Elevated free T3 (FT3) is an important feature for the early diagnosis of several diseases among which Grave’s disease or Allan-Hernon-Dudley syndrome. However, there is a lack of age-adapted reference intervals for plasma thyroid hormones in children. We conducted a study to define reference values of peripheral FT3 in children using a commonly used automated immunoassay. Methods All thyroid function test (TFT) results from our lab collected during 9 months were extracted anonymously, and reference intervals establishment followed recommendations validated by International Federation of Clinical Chemistry (IFCC). Results We defined five reference intervals covering the whole pediatric period. Overall, 26.1% of peripheral FT3 measured in children with normal TSH are out of the adult reference range, and 22.2% are upper it leading to misinterpretation. In a 9-month old patient with severe neurodevelopmental disorders, a pathological elevated FT3 has been securely interpreted using the newly established interval. Conclusions The study highlights the poor relevance of adult intervals in pediatric cares, as it confirms that plasmatic FT3 is higher during the whole pediatric period. This work reports useful age-adapted reference intervals for free T3 in pediatrics using a widely used electrochemiluminescent Immunoassay (ECLIA) kit.

Objectives Childhood-onset craniopharyngiomas (CPs) have a high incidence of growth hormone deficiency (GHD) leading to growth failure and metabolic disorders. We aim to evaluate the benefits and risks of recombinant human growth hormone replacement therapy (GHRT) in postoperative children. Methods We retrospectively analyzed auxological and metabolic parameters and adverse events before and after GHRT of 44 children after CP surgery. Results The median duration of GHRT was 24 months (IQR, 12.5–36). Growth velocity (GV) increased significantly after different treatment duration (TD) compared with baseline (p<0.001) and attained the greatest GV of 12.06 ± 4.16 cm/year at TD6. The mean height standard deviation score (HtSDS) from −3.20 ± 1.16 at baseline improved significantly to −1.51 ± 1.32 at TD36 (p<0.001). There were significant increases in insulin-like growth factor-1 SDS (IGF-1SDS), insulin-like growth factor binding protein 3 SDS (IGFBP-3SDS), bone age (BA), and BA/chronological age (CA) (p<0.05). There was a significant reduction in waist-to-hip ratio (WHR), but there were no significant changes in weight SDS (WtSDS) or BMISDS. Low-density lipoprotein-cholesterol (LDL-C) levels and the incidence of hypercholesterolemia decreased (p<0.05). Three patients (6.8%) had tumor recurrence after 15, 30, and 42 months, respectively. A patient had residual tumor enlargement after 3 months. There was no adverse influence on glucose metabolism or any severe adverse events. Conclusions GHRT effectively accelerates GV, increases HtSDS, and improves lipid profiles without unfavorable effects on glucose metabolism. The benefits are clear and the risks of adverse events are low.

Objectives There have been recent advances assessing copeptin levels in adults with suspected disorders of vasopressin release. Very limited data exits on copeptin levels in children and infants, especially in a critically-ill hospitalized population where hyper- and hypo-natremia are very common. Our objective is to describe the institutional experience assessing copeptin levels in hospitalized infants and children with hyper- or hypo-natremia. Methods We performed a single-center retrospective case series of all infants, children, and adolescents who had an ultrasensitive plasma copeptin level obtained between 2019-2021. Results A total of 29 critically ill patients (6 infants) were identified with 38 % of patients having copeptin levels after neurosurgical procedures for tumors or trauma. Approximately 13/17 children with hypernatremia had central diabetes insipidus (central diabetes insipidus) to diagnose CDI, A copeptin level ≤ 4.9 pmol/L resulted in an 88 % sensitivity (95 % CI 47–99 %), and 66 % specificity (95 % CI 30–93 %). Amongst those with hyponatremia levels were more variable, 8/12 children had syndrome of inappropriate antidiuresis (SIAD) with copeptin levels ranging 4.7–72.6 pmol/L. Conclusions While difficult to conclude due to multiple limitations, this case series highlights that typical copeptin cutoffs used to diagnose DI in adults in an ambulatory setting may also translate to a critically-ill pediatric population. Large prospective studies are needed to confirm this observation. In addition, postoperative copeptin levels could potentially be utilized as an additional marker to predict permanent from transient DI, but much larger studies are needed. Further work is needed to establish normative copeptin levels in infants and patients with SIAD.

Objectives Autosomal dominant hypocalcaemia 1 (ADH1) is a rare autosomal dominant genetic disease, due to the activating mutations of the calcium-sensing receptor ( CASR ) gene. The current paper presents a severe case of ADH1 with intellectual backwardness, and systematically reviews the reported 17 ADH1 patients in China. Case presentation A 7 years old boy with recurrent seizures over 1 year was admitted at Yuying children’ hospital, the clinical centre of south province of Zhejiang. Auxiliary examinations demonstrated hypocalcaemia, hyperphosphatemia, hypomagnesemia, hypercalciuria, low parathyroid hormone (PTH), basal ganglia calcifications, normal range of serum creatinine, and 25-hydroxyvitamin D. Wechsler’s intelligence test result indicated intellectually backward. The patient’s genotype found a heterozygous variant in CASR gene, c.T416C p. (Ile139Thr). This article also systematically reviews the literatures on ADH1 in China and summarises the clinical characteristics and treatment. Conclusions ADH1 can be a cause of idiopathic hypoparathyroidism. Recognition and rational treatment is important for symptom improvement and reducing high potential adverse effects.

Objectives Hypoparathyroidism (HypoPT) is a rare disorder and non-surgical cases require careful evaluation, since may be due to genetic, autoimmune, or metabolic factors. Case presentation We present a 15-year-old girl with a previous diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to G985A homozygous mutation. She was admitted to the emergency department with severe hypocalcaemia and inappropriately normal level of intact parathyroid hormone. Main etiologies of primary HypoPT were excluded, so it was suspected to be related to MCAD deficiency. Conclusions The association of fatty acid oxidation disorders and HypoPT has been previously described in the literature, but its link to MCAD deficiency has only been reported once. We present the second case describing the coexistence of both rare diseases. Since HypoPT can be a life-threatening condition, we suggest calcium levels be assessed in these patients on a regular basis. Further research is needed to better understand this complex association.

Objectives Autoimmune polyglandular syndrome type 2 (APS2) is characterized by autoimmune adrenal insufficiency (AI) in conjunction with autoimmune thyroid disease (AITD) and/or type 1 diabetes mellitus (T1DM). The aim is to report an 11-year-old girl with concurrence of Addison disease, celiac disease and thyroid autoimmunity. Case presentation She initially presented at the age of 5 with vomiting, dehydration, hyponatremia, hyperkalemia and low glucose. She recovered with intravenous hydration but the diagnosis was not established. She presented again at the age of 11 with hyperpigmentation, weakness and signs of impending adrenal crisis. Diagnosis of autoimmune AI was established together with celiac disease and thyroid autoimmunity. Thus, she met criteria for APS, being the third pediatric case report of APS2 with this combination. Conclusions This case is notable for the atypical age of onset, given that APS2 is rare in the pediatric population. Furthermore, it depicts the insidious course of Addison disease with symptoms fluctuating for years before diagnosis.

Objectives Ectopic adrenocorticotropic hormone secretion/syndrome (EAS) is caused by excess secretion of ACTH leading to hypercortisolism by non-pituitary, commonly malignant origins. We present a rare case of esthesioneuroblastoma (ENB) complicated by EAS in the follow-up period. Case presentation A child presented with nasal obstruction at the age of 10 months. Polypoid mass obstructing the right nasal passage was detected. Magnetic resonance imaging (MRI) showed a lesion limited within the nasal cavity. The lesion was completely removed by nasal endoscopic surgery. The pathologic examination revealed a diagnosis of esthesioneuroblastoma. It was confined to the nasal cavity so chemotherapy/radiotherapy was not administered and began to follow up. At 28 months of age, he presented with rapid weight gain. Laboratory data were consistent with Cushing’s syndrome (CS). High-dose dexamethasone suppression test and imaging studies led us to think of ectopic ACTH syndrome originated from ENB relapse. After partial resection of the tumor, ketoconazole treatment was started along with chemotherapy. Hypercortisolemia was kept under control with ketoconazole treatment as long as the treatment was maintained. Conclusions Cushing syndrome is a rare endocrine disorder. Adrenal sources of hypercortisolism and ectopic sources of ACTH overproduction should be investigated especially in young children.