Background Given the importance of anxiety and quality of life for the mental health of children with type 1 diabetes (T1D), exercise prescription can be of crucial significance. The present study aims to explore the effect of concurrent resistance-aerobic training on serum cortisol level, anxiety, and quality of life among pediatric T1D. Methods Forty children (aged 8-14 years) were randomly assigned to experimental (n = 20) and control groups (n = 20) for 16 weeks. The exercise training program was composed of 16 weeks of interval concurrent resistance-aerobic training with a duration of 60 min performed three times a week. The subjects first performed the resistance training (20 min of Pilates exercises and 20 min of body weight-bearing exercises). Then, the aerobic exercises were performed with an intensity of 50-75% of maximum heart rate. Before and after the training, blood tests including cortisol were carried out on the subjects by RIA kit. Anxiety and quality of life were measured by the Revised Children's Manifest Anxiety Scale (RCMAS) and Pediatric Quality of Life (PedsQL), respectively. Body composition was measured by InBody. Data were analyzed by paired and independent t-test at p < 0.05 significance level. Results Sixteen weeks of concurrent resistance-aerobic exercise significantly reduced the anxiety index (p = 0.001) and increased the quality of life (p = 0.003). Although the cortisol index was increased, it did not reveal any significant differences between the experimental and control groups (p = 0.781). No significant differences were observed in the indices of quality of life, anxiety, and cortisol in the control group. Conclusions A 16-week program of concurrent resistance-aerobic training can improve the quality of life and anxiety among children suffering from T1D, but it may not influence the cortisol level (p > 0.05).
Hypoglycemia is a common metabolic problem in newborns, often asymptomatic but can lead to cognitive impairment and neuromotor delays. This study assesses the practicality and accuracy of whole blood capillary bedside glucose measurements using a point-of-care (POC) glucometer compared to serum glucose levels obtained via laboratory methods. The objective of this article was to evaluate the reliability of POC glucose levels in the NICU and compare them with central laboratory glucose measurements. A retrospective cross-sectional comparative study was conducted on 108 newborns admitted to the NICU at the Health Science Center, Winnipeg, Manitoba, Canada, between September 2022 and August 2024. Hypoglycemic POC glucose results from the Nova Stat Strip glucose meter were compared to confirmatory central laboratory serum glucose results produced on the Roche cobas c501 analyzer. A significant correlation was observed between serum glucose levels and glucometer readings, with a correlation coefficient of 0.825. Regression analyses showed a slope of 1.223 (Deming) and 1.200 (Passing-Bablok), with intercepts of -0.75 and -0.70, respectively. Accurate blood glucose measurement is critical for early detection and management of neonatal hypoglycemia. Given the reliability of current glucometers and their close correlation to serum samples, this study questions the need for confirmatory serum samples in the presence of bedside hypoglycemic results.
Background The objective of this study was to evaluate the age at onset and frequency of individual pituitary hormone deficiencies (PHDs) in optic nerve hypoplasia (ONH). Methods We performed a retrospective chart review of patients ≤21 years of age evaluated between 1996 and 2014. Patients were included if they had: (1) ONH diagnosed by an ophthalmologist and/or magnetic resonance imaging (MRI), (2) documentation of pituitary hormone function on at least two separate occasions and (3) at least one PHD documented or a midline abnormality of the brain on MRI. Results Thirty-two patients (18 females, 14 males) were included (median age, 8 years [range, 1.1-21.0 years]). All patients had ONH (bilateral, n = 31; unilateral, n = 1) and at least one midline abnormality of the brain. At least one PHD was present in 75% of patients (n = 24). The remaining 25% of patients (n = 8) did not develop any PHD at least until the last follow-up (<2-8.6 years of follow-up), despite the presence of ONH and a midline abnormality of the brain. The median age (years) at diagnosis of antidiuretic hormone (ADH), thyroid-stimulating hormone (TSH), adrenocorticotropic hormone (ACTH) and growth hormone (GH) deficiencies was 0.5, 0.6, 0.7 and 1.6, respectively. Twenty-three percent of all PHDs were identified during the neonatal period, 56% by 12 months and 72% by 36 months of age. The latest age at diagnosis of GH, ACTH and TSH deficiencies was 9.6, 9.9 and 12.6 years, respectively. Conclusions The majority of the PHDs in ONH develop within the first 3 years of life. We propose evaluation for endocrinopathies at the time of diagnosis of ONH, with repeat assessment for new deficiencies every 3-4 months until age 3 years and at least semi-annually until growth and puberty are complete.
Maturity-onset diabetes of the young (MODY), an autosomal dominant disease, is frequently misdiagnosed as type 1 or 2 diabetes. Molecular diagnosis is essential to distinguish them. This study was done to investigate the prevalence of MODY subtypes and patients' clinical characteristics. A total of 43 out of 230 individuals with diabetes were selected based on the age of diagnosis >6 months, family history of diabetes, absence of marked obesity, and measurable C-peptide. Next-generation and direct SANGER sequencing was performed to screen MODY-related mutations. The variants were interpreted using the Genome Aggregation Database (genomAD), Clinical Variation (ClinVar), and pathogenicity prediction tools. There were 23 males (53.5%), and the mean age at diabetes diagnosis was 6.7 ± 3.6 years. Sixteen heterozygote single nucleotide variations (SNVs) from 14 patients (14/230, 6%) were detected, frequently GCK (37.5%) and BLK (18.7%). Two novel variants were identified in HNF4A and ABCC8. Half of the detected variants were categorized as likely pathogenic. Most prediction tools predicted Ser28Cys in HNF4A as benign and Tyr123Phe in ABCC8 as a pathogenic SNV. Six cases (42.8%) with positive MODY SNVs had islet autoantibodies. At diagnosis, age, HbA1c, and C-peptide level were similar between SNV-positive and negative patients. This is the first study investigating 14 variants of MODY in Iran. The results recommend genetic screening for MODY in individuals with unusual type 1 or 2 diabetes even without family history. Treatment modifies depending on the type of patients' MODY and is associated with the quality of life.
Objectives Graves' disease (GD) is an autoimmune disease involving intimate response of both T cells and B cells. Immunophenotyping of peripheral blood lymphocyte subsets in GD children with different clinical characteristics can provide further information of the pathogenesis of GD. Methods We studied the lymphocyte subsets in peripheral blood of 141 children with GD. We repeatedly divided the patients into two groups in accordance with different clinical characteristics (abnormal or normal alanine aminotransferase (ALT) levels, the presence or absence of Graves' orbitopathy (GO), and the presence or absence of hematuria. Then we compared the lymphocyte subsets measurements between two paired groups. Results We found that serum ALT levels correlated positively with CD3+CD8+ T cell percentages in children with GD. Moreover, we detected higher percentages of CD3-CD19+ cells and higher ratio of CD4/CD8 in patients with GO. However, no correlation was found between GO status and lymphocyte subsets after excluding confounding effect of TRAb. No difference of lymphocyte subset percentages was found between groups with or without hematuria. Conclusions Serum ALT levels correlate positively with cytotoxic T cell percentages in the peripheral blood of children with GD. The cytotoxic T cell may play a role in the pathogenesis of hepatic dysfunction in children with GD.
Objectives Type 1 diabetes is an autoimmune disease. Its most important immunologic markers are pancreatic beta-cell autoantibodies. This study aimed to determine diabetes mellitus antibodies frequency among children and adolescents with type 1 diabetes. Methods This descriptive study evaluated the frequency of four diabetes autoantibodies (glutamic acid decarboxylase 65 autoantibodies [GADA], islet cell autoantibodies [ICA], insulin autoantibodies [IAA], tyrosine phosphatase-like insulinoma antigen-2 antibodies [IA-2A]) and their serum level in children and adolescents diagnosed with type 1 diabetes mellitus at the diabetes department of Bou-Ali-Sina Hospital and Baghban Clinic, Sari, Iran, from March 2012 to March 2018. The relationship between the level of different antibodies and age, gender, and diabetes duration were determined. A two-sided p value less than 0.05 indicated statistical significance. Results One hundred forty-two eligible patient records were screened. The average age at diabetes diagnosis was 4.2 ± 4.4 years. The median duration of diabetes was 34.0 (12.7-69.7) months. 53.5% of patients were female, and 81.7% of them had at least one positive autoantibody, and ICA in 66.2%, GADA in 56.3%, IA-2A in 40.1%, and IAA in 21.8% were positive. The type of the autoantibodies and their serum level was similar between females and males but there was a higher rate of positive autoantibodies in females. The level of IA-2A and ICA were in positive and weak correlation with age at diagnosis. Conclusions More than 80% of pediatric and adolescent patients with type 1 diabetes were autoantibody-positive. ICA and GADA were the most frequently detected autoantibodies. The presence of antibodies was significantly higher in females.
Diabetic nephropathy (DN) is a frequent complication in patients with long-standing type 1 diabetes mellitus (DM1). The objective of this study was to assess the prevalence of DN in DM1 patients diagnosed during childhood and its association with clinical and metabolic variables, such as age at diagnosis of DM1, glucose control, dyslipidemia, hypertension and the occurrence of diabetic retinopathy (DR). The medical records of 205 patients admitted to the Pediatric Endocrinology Division at the Hospital das Clinicas da Universidade Federal de Minas Gerais, in Belo Horizonte, Brazil, were analyzed. For the analysis of survival and prognostic factors, the Kaplan-Meyer method and the COX regression model were used. The mean disease duration was 11.32 +/- 4.02 years and the mean age at diagnosis was 6.10 +/- 3.54 years. Microalbuminuria was present in 11.2% of them, proteinuria in 6.8% and end-stage renal disease (ESRD) in 2.9%. There was a significant association between the occurrence of microalbuminuria or proteinuria and poor glucose control (p=0.025 and p=0.005, respectively), higher LDL cholesterol levels (p=0.006 and p=0.004, respectively) and age greater than 6 years at diagnosis (p=0.049 and p=0.05, respectively). Proteinuria was also associated to the occurrence of DR (p=0.016). Our data showed that the prevalence of DN was higher than expected in this young population studied, especially considering the most severe forms. Clinical and laboratory factors associated to ND were: poor long-term glucose control, higher levels of LDL-C, higher age at diagnosis and the occurrence of DR.
Background Persistent hypoglycemia (PH) beyond 3 days of life warrants investigation which includes a critical sample. We report our case series of five neonates who presented with PH as the first sign of congenital hypopituitarism. Design This is a case series. Methods/Results This is a case series of five neonates evaluated at our academic institution in a 3-year period (2013-2016), who presented with persistent severe hypoglycemia and were subsequently diagnosed with congenital hypopituitarism. All neonates were full term (mean gestational age 39.8 ± 1.4 weeks) born by caesarian section with a mean weight of 3.5 ± 0.16 kg and a mean length of 51.2 ± 1.2 cm at birth. All five neonates had PH beyond 3 days with an average blood glucose (BG) <35 mg/dL at presentation, requiring a mean glucose infusion rate (GIR) of 7.22 ± 1.98 mg/kg/min. The average BG during the critical sample was 42 ± 0.16 mg/dL (three patients). The mean duration of requirement of the glucose infusion was 6.2 ± 3 days during the immediate neonatal period. Diagnosis of the hypopituitarism took 2-52 days from the initial presentation of hypoglycemia. Besides growth hormone (GH) deficiency, cortisol deficiency was diagnosed in all the five neonates. Neuroimaging findings in all the neonates were consistent with pituitary stalk interruption syndrome (hypoplastic anterior pituitary, ectopic posterior pituitary [EPP] and interrupted pituitary stalk). Conclusions Hypoglycemia is a common metabolic complication affecting an infant in the immediate neonatal period. Delay in the diagnosis of hypopituitarism presenting as hypoglycemia is the result of the lack of awareness among neonatologists and/or pediatricians. We propose that providers be cognizant that PH can be the only presentation of hypopituitarism in the neonatal period. Therefore, having a high index of suspicion about this condition can avoid a delay in the evaluation, diagnosis and treatment of hypopituitarism.
Chronotype reflects individual circadian preferences and may influence metabolic regulation and daily functioning. This study aimed to investigate the association between chronotype and glycaemic control, assessed by HbA1c, as well as health-related quality of life in children and adolescents with type 1 diabetes mellitus. This cross-sectional study included 84 children and adolescents aged 8-18 years with type 1 diabetes of at least one year's duration. Chronotype was assessed using the Munich Chronotype Questionnaire. Health-related quality of life was evaluated using age-appropriate versions of the Pediatric Quality of Life Inventory (PedsQL™). Glycaemic control was assessed using the mean HbA1c value from the most recent three months. Chronotype distribution was 19.0 % morning, 44.0 % intermediate, and 36.9 % evening. HbA1c levels differed significantly among chronotype groups (p=0.003), with higher levels observed in participants with an evening chronotype compared with those with a morning chronotype. Total PedsQL scores also differed significantly across chronotype groups (p=0.007), with lower scores in the evening chronotype group. Social and school functioning subscale scores were significantly lower in participants with an evening chronotype. HbA1c levels were positively correlated with age and diabetes duration, while total PedsQL scores showed a moderate negative correlation with age. Chronotype was associated with both glycaemic control and quality of life in children and adolescents with type 1 diabetes. Evening chronotype was linked to higher HbA1c levels and poorer psychosocial functioning, particularly in social and school domains. These findings suggest that circadian preferences may be relevant when interpreting metabolic and quality of life outcomes in paediatric type 1 diabetes.
Coronavirus disease 2019 has caused a major epidemic worldwide, and lockdowns became necessary in all countries to prevent its spread. This study aimed to evaluate the effects of staying-at-home practices on the metabolic control of children and adolescents with type 1 diabetes during the pandemic period. Eighty-nine patients younger than 18 years old who were diagnosed with type 1 diabetes at least one year before the declaration of the pandemic were included in the study. The last visit data of the patients before and after the declaration of the pandemic, and the frequency of presentation of diabetes-related emergencies from one year after diagnosis of type 1 diabetes to the declaration of the pandemic, and from the declaration of the pandemic to the last visit after the pandemic declaration were compared. The total number of patients was 89, and 48 (53.9%) were boys. The mean (± standard deviation [SD]) age at diagnosis was 8.4 ± 3.7 years (boys 7.9 ± 3.6 years; girls 8.9 ± 3.9 years). There was no statistically significant difference when the SD values of the anthropometric measurements, and the glycosylated hemoglobin (HbA1c) and lipid profile tests were compared. However, the frequency of admission to the emergency service related to diabetes was significantly different. Although the pandemic did not significantly affect the metabolic and glycemic controls of the children with type 1 diabetes included in this study, an increase in the frequency of diabetes-related emergency admissions was noted.
This study aimed to evaluate changes in fear of hypoglycemia (FOH) and quality of life (QoL) following at least six months of continuous glucose monitoring (CGM) use in the same cohort with type 1 diabetes mellitus (T1DM). This was a prospective, observational study including first-time CGM users. Auxologic, laboratory, and CGM data was collected. All participants were asked to complete the validated Turkish versions of the Pediatric Quality of Life Inventory (PedsQL) 3.0 Diabetes Module for both children and parents; the quality of life for youth scale for adolescents; children's hypoglycemia index (CHI). When pre- and post-CGM scores were compared, the mean total CHI score significantly decreased (p=0.018). Among the subscales, significant reductions were also observed in the "specific situations" (p=0.044) and "behavior scales" (p=0.025) subscales, whereas the "general fears" did not show a significant change (p=0.396). In PedsQL forms, there were no statistically significant differences between pre- and post-CGM total or subscale scores. CGM metrics were also compared between participants who showed improvement in FOH and/or QoL and those who did not. Participants with improvement in FOH had significantly higher sensor active use percentages compared to those without improvement (98.95 vs. 93.0 %, p=0.039). This study's ability to assess pre- and post-CGM outcomes in the same patients highlights its clinical significance. Our findings suggest that using CGM in children and adolescents with T1DM is associated with a reduction in FOH.
Prevalence of diabetes distress and mental health comorbidities among adolescents with type 1 diabetes (T1D) is high. Despite recommendations for routine psychosocial risk assessment, there is little guidance for their implementation. This study aims to describe the implementation and baseline outcomes of the Mind Youth Questionnaire (MY-Q), a validated psychosocial screening tool for health-related quality of life (QoL) including mood, among adolescents living with T1D. Adolescents aged 13-18 years completed the MY-Q from October 1, 2019-April 1, 2023. Baseline characteristics, MY-Q results including categories flagged positive (noting possible areas of concern), debrief duration, and frequency of social work or mental health referral were collected and analyzed using descriptive statistics. A total of 343 adolescents (mean age 15.3 years; 52 % female) completed a baseline MY-Q. Median overall MY-Q debrief time (IQR) was 10.0 min (6.0, 20.0). About 290 (84.5 %) adolescents had at least one of seven categories flagged, most commonly "Family" (61 %). About 30 % of adolescents had "Mood" flagged, and 2.9 % of adolescents were referred to mental health following debrief. Without the need for additional resources, implementation of the MY-Q in a pediatric tertiary care diabetes clinic successfully identified QoL issues and mental health concerns among adolescents with T1D.
17β-Hydroxysteroid dehydrogenase 3 (17β-HSD3) deficiency is a rare 46XY disorder of sex development (DSD) of androgen biosynthesis. We aimed to describe the complexities in diagnosis, gender assignment, and the timing of irreversible surgical interventions in 17β-HSD3 deficiency. We described three genetically confirmed cases of 46XY DSD due to 17β-HSD3 deficiency. All of them had female-appearing external genitalia, and the third case had well-developed breasts with clitoromegaly. The biochemical evaluation showed hCG-stimulated T/A ratios of 0.4 and 0.35 in Cases 1 and 2, respectively, and an unstimulated T/A ratio of 0.25 in Case 3. Molecular analysis revealed three different HSD17B3 variants: c.72C>A(p.Cys24Ter), c.764C>T(p.Ser255Leu), and c.607-1G>A(3'splice site) in the respective cases. Despite the female-appearing external genitalia in Case 1, the parents decided to rear the child as male, whereas Cases 2 and 3 retained a female gender identity. The first two cases were advised to have regular follow-up for gender dysphoria, while Case 3 was managed with injectable leuprolide depot and anti-androgens. 17β-HSD3 deficiency remains a challenging 46 XY DSD due to its clinical heterogeneity and diverse molecular spectrum. This report adds to current molecular knowledge by reporting two novel variants in the HSD17B3 gene.
Hepatic steatosis (HS) represents one of the most frequent metabolic complications of pediatric obesity and is closely linked with insulin resistance (IR). Although the homeostatic model assessment for insulin resistance (HOMA-IR) is widely used, lipid-derived indices such as the triglyceride-glucose (TyG) index and triglyceride/high-density lipoprotein cholesterol (TG/HDL-C) ratio have recently emerged as simple IR surrogates. Data comparing these indices with HS severity in children remain limited. This single-center retrospective study included 462 children aged 6-18 years with overweight or obesity who were evaluated between October 2023 and December 2024. Anthropometry, biochemical data, and ultrasonographic HS grading were obtained from medical records. HOMA-IR, TyG, and TG/HDL-C indices were calculated, and their associations with HS presence and severity were analyzed using correlation and multivariable regression models. HS was identified in 53.5 % of participants (grade 1: 29.9 %, grade 2: 16.6 %, grade 3: 6.0 %). Children with HS demonstrated significantly higher HOMA-IR, TyG index, and TG/HDL-C ratio compared with those without HS (all p<0.001). HOMA-IR increased progressively with HS grade (p<0.05), whereas TyG and TG/HDL-C did not display a significant gradient. Logistic regression confirmed that HOMA-IR was independently associated with HS severity (β=0.261; 95 % CI: 0.030-0.078; p<0.001), while TyG and TG/HDL-C were not. ALT levels rose significantly with HS grade, whereas AST showed no severity-related pattern. HOMA-IR remains the strongest metabolic predictor of hepatic steatosis severity in pediatric obesity. Although TyG and TG/HDL-C reliably differentiate HS presence, they do not independently estimate HS progression. Lipid-derived markers may support non-insulin-based screening; however, HOMA-IR should be prioritized when stratifying steatosis risk.
Background The present study was designed to evaluate the metabolic profile, cardiovascular risk factors and quality of life in children with congenital adrenal hyperplasia (CAH) and compare it with age- and sex-matched controls. Methods Fifty-two patients aged 3-21 years with classic CAH due to 21-hydroxylase deficiency were included in the study. Metabolic profiling was done for 36 cases and compared with 28 healthy age- and sex-matched controls. Quality of life was assessed in all 52 children and their parents using a validated Pediatric Quality of Life Inventory (PedsQL) questionnaire and was compared with normative data from the same population. Results The median age was 12 years with 14 (27%) males and 38 (73%) females. Out of the total 52 patients, 35 (67%) had salt wasting and 17 (33%) had simple virilising CAH. The median height standard deviation score (SDS) of cases was similar to that of controls (-0.72 vs. -0.64, p = 0.57) and 81% of females had normal pubertal status indicating a good control of the disease. Weight SDS, body mass index (BMI) SDS, mean diastolic blood pressure and insulin resistance were significantly higher in cases when compared to controls (0.31 vs. -0.3; 0.96 vs. 0.17; 67.8 ± 10.49 vs. 61 ± 8.49 and 2.1 vs. 0.95, respectively). The quality of life was significantly reduced in all domains as per parents' perspective, whereas the children reported reduced quality of social and school functioning. There was no significant correlation between quality of life and metabolic parameters. Conclusions Children with CAH despite a reasonably good control of the disease have a higher cardiovascular risk and reduced quality of life when compared to healthy controls.
Priming with sex steroids prior to growth hormone (GH) stimulation tests for the diagnosis of GH deficiency is still debatable. We analyzed the auxological data of boys with growth retardation who had normal GH responses to stimulation tests only after priming to establish the validity of priming in the diagnosis of GH deficiency. We also analyzed the effect of different protocols for priming and their efficiency in the diagnosis of GH deficiency. Fifty boys with growth retardation who failed to respond to unprimed GH stimulation tests but responded normally to primed tests were included in the study. Thirty-one of 50 boys responded to GH stimulation tests after single low dose testosterone, 11/50 boys after single conventional dose, and 8/50 boys with multiple-dose testosterone. The study group was followed till final height; height velocity, final height and height SDS were compared to parental and mid-parental heights to determine whether or not the children achieved their height potential. Mean final height SDS of the study group (-1.27 +/- 0.72 SDS) was similar to mid-parental (-1.38 +/- 0.72 SDS) (p = 0.249) and maternal height SDS (-1.26 +/- 1.05 SDS) (p = 0.941), whereas it was greater than the paternal height SDS (-1.7 +/- 0.86) (p = 0.001). The final height SDS of the study group was correlated to maternal, paternal and mid-parental height SDS. Height velocity after the test was greater than the previous height velocity. Final height SDS of the boys who responded to the GH stimulation tests with different priming protocols were compared and found to be similar. Normal responders in primed GH tests grow normally to their target height, suggesting that priming might be a valuable method in the assessment of GH status. Use of priming in the GH stimulation tests of peripubertal boys with decreased growth rate may help avoid unnecessary GH therapy. Multiple-dose testing might exclude GHD in a patient population who failed to respond to a single dose of testosterone. This finding suggests that multiple-dose testosterone might be a more valuable method for priming in the differentiation of normal from abnormal GH secretion.
We aimed to collect data on all paediatric patients who were diagnosed with type 1 diabetes mellitus (T1DM) between the years 2000 and 2019 in Serbia and estimate for the first time its prevalence. Also, the trends of diabetes ketoacidosis (DKA) occurrence at the time of diagnosis are monitored. We collected and retrospectively analysed the data of patients <19 years with newly diagnosed T1DM. T1DM was diagnosed in 3134 patients (53.2% male). Total number of youth <19 years with T1DM was 1735 with prevalence of 135.25/100000 at the end of study period. T1DM was diagnosed most frequently between the ages of 5 and 11 years (42.1%). At the time of diagnosis, 35.7% presented in DKA. The incidence and severity of DKA were more significant at the youngest age (p<0.001). There were significant annual percentage increase (2.2%) in the number of new cases of DKA (p=0.007). Conclusion: This first report of nationwide prevalence of T1DM in youth shows that Serbia is among countries with high prevalence of T1DM in youth. System changes are needed in order to provide better quality of health care to these patients.
X-linked adrenoleukodystrophy (X-ALD), is a peroxisomal inborn error of metabolism caused due to the loss of function variants of ABCD1 gene that leads to accumulation of very long chain fatty acids (VLCFAs) in several tissues including the neurological system. Childhood cerebral X-ALD (CCALD) is the most common and severe form of X-ALD, if left untreated. Allogenic hematopoietic stem cell transplantation (HSCT) is the only available therapy that halts neurological deterioration in CCALD. We present 12 patients with several subtypes of X-ALD that were followed-up in a single center. Data of 12 patients diagnosed with X-ALD were documented retrospectively. Demographics, age of onset, initial symptoms, endocrine and neurological findings, VLCFA levels, neuroimaging data, molecular genetic analysis of ABCD1 gene, and disease progress were documented. Mean age of initiation of symptoms was 7.9 years and mean age of diagnosis was 10.45 years. Eight patients had the CCALD subtype, while two had the cerebral form of AMN, one had the adult form of cerebral ALD, and one patient had the Addison only phenotype. The most common initial symptoms involved the neurological system. Loes scores varied between 0 and 12. Seven patients with CCALD underwent HSCT, among them three patients died. The overall mortality rate was 25%. Patients with X-ALD should be carefully followed up for cerebral findings and progression, since there is no genotype-phenotype correlation, and the clinical course cannot be predicted by family history. HSCT is the only available treatment option for patients with neurological deterioration.
It has been hypothesized that SARS-CoV-2 may play a role in the development of different forms of diabetes mellitus (DM). The Canary Islands have the highest incidence of type 1 DM (T1DM) reported in Spain (30-35/100,000 children under 14 years/year). In 2020-2021 we observed the highest incidence so far on the island of Gran Canaria, as a result of which we decided to evaluate the possible role of COVID-19 in the increased number of onsets. We examined the presence of IgG antibodies against SARS-CoV-2 in children with new onset T1DM between October 2020 and August 2021. We compared recent T1DM incidence with that of the previous 10 years. Forty-two patients were diagnosed with T1DM (48.1/100,000 patients/year), representing a nonsignificant 25.7% increase from the expected incidence. Of the 33 patients who consented to the study, 32 presented negative IgG values, with only one patient reflecting undiagnosed past infection. Forty-four percent of patients presented with ketoacidosis at onset, which was similar to previous years. We conclude that there is no direct relationship between the increased incidence of T1DM and SARS-CoV-2 in the region. The COVID-19 pandemic did not result in an increased severity of T1DM presentation.
With this review, we aim to focus the attention on some established as well as new concepts for the metabolic syndrome (MetS) in children and adolescents spanning from definition to recommendations for the diagnostic approach. Even though there is no international commonly used definition of the metabolic syndrome in children and adolescents, all definitions include obesity as precondition for the development of MetS even in children. Obesity is one of the major cardiometabolic risk factors and it is strongly linked to other metabolic diseases like hyperlipidemia, hyperinsulinemia as well as hypertension. The metabolic syndrome is commonly known as a constellation of the mentioned morbidities. Pediatricians and researchers agree that early diagnosis and early interventions of the MetS are important to improve the prevention of cardiovascular disease and type 2 diabetes in adulthood. However, this requires appropriate screening tools for children and adolescents at risk for the MetS and its comorbidities. Due to controversies regarding the definition of MetS and the lack of consensus thresholds for the single components in children and adolescents, there is no internationally accepted diagnostic pathway for MetS available. However, several consensus statements and national guidelines for the assessment of obesity and its comorbidities in children and adolescents are available. Obesity seems to be the driving factor for the development of the other risk factors of MetS. In order to avoid conflicts concerning the definition of overweight and obesity, we recommend using the WHO definition of overweight (one standard deviation body mass index for age and sex and obesity; two standard deviations body mass index for age and sex) in children and adolescents.