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Children and adolescents with type 1 diabetes (T1D) often experience abnormalities in bone health. Studies have consistently demonstrated that youth with T1D have lower bone mineral density (BMD) compared to their healthy peers. Additionally, children with T1D show impaired bone microarchitecture and reduced bone turnover. These factors collectively contribute to an increased risk of fractures across the life span of this population. To optimize bone accrual and reduce fracture risk, several strategies can be employed during childhood and adolescence. First, maintaining good glycemic control is critical, as poor glycemic control has been associated with lower BMD and an increased risk of fractures. Second, specific nutritional recommendations can help improve bone health, including a balanced diet, adequate calcium and vitamin D intake, and careful monitoring of both macronutrient and micronutrient intake. Third, regular physical activity plays a vital role. A systematic review and meta-analysis have shown that youth with T1D are generally less physically active, more sedentary, and have lower cardiorespiratory fitness levels than their non-diabetic peers. This review emphasizes targeted strategies aimed at optimizing skeletal health in the pediatric population with T1D, with a particular focus on the critical roles of glycemic control, nutritional adequacy, and regular physical activity. These modifiable factors may contribute to the reduction of fracture risk across the life span in individuals with T1D.

Background: Ataxia telangiectasia (AT) is a genetic multisystem disorder, presenting with progressive ataxia, immune deficiency, and propensity toward malignancy. Endocrine abnormalities (growth retardation, reproductive dysfunction, and diabetes) have been described, however detailed information regarding this aspect is lacking. We aimed to characterize endocrine anomalies and growth patterns in a large cohort of AT patients. Methods: Retrospective study comprising all 52 patients (aged 2–26.2 y) followed at a national AT Clinic. Anthropometric and laboratory measurements were extracted from the charts. Results: Median height-SDS was already subnormal during infancy, remaining negative throughout follow up to adulthood. Height-SDS was more impaired than weight-SDS up to age 4 y, thereafter weight-SDS steadily decreased, resulting in progressively lower BMI-SDS. IGF-I-SDS was low (−1.53 ± 1.54), but did not correlate with height-SDS. Gonadal failure was present in all 13 females older than 10 y but only in one male. Two patients had diabetes and 10 had dyslipidemia. Vitamin D deficiency was observed in 52.2% of the evaluated patients. Conclusion: Our results suggest a primary growth abnormality in AT, rather than secondary to nutritional impairment or disease severity. Sex hormone replacement should be considered for female patients. Vitamin D levels should be followed and supplementation given if needed.

A new syndrome of diabetes, short stature, microcephaly and intellectual disability has been described in association with mutations in the tRNA methyltransferase 10 homologue A (TRMT10A) gene. We report a patient who presented with fasting hyperglycemia, a raised hemoglobin A1c and positive islet cell autoantibodies. Additional clinical features included intellectual disability, hypoplastic kidneys and short stature. In view of the syndromic features coexistant with diabetes, genetic evaluation was carried out, revealing a homozygous mutation in the TRMT10A gene (c.616G>A, p.G206R). The case highlights the importance of genetic evaluation of patients with diabetes with atypical features that can further progress our understanding of the pathophysiology of the rarer subtypes of diabetes.

Background: Impaired bone health is a recognized complication of type 1 diabetes. This study evaluated the effects of low-carbohydrate (LC) and Mediterranean (MED) diets on bone turnover markers in adolescents and young adults. Methods: In a 24-week randomized controlled trial, 40 individuals aged 12–21 years, with type 1 diabetes, were assigned to an LC or MED intervention (20 participants per group). C-terminal telopeptide (CTX) and procollagen type 1 N-terminal propeptide (P1NP) were measured at baseline and 24 weeks. Results: The groups had similar baselines. At 24 weeks, the between-group difference in delta glucose time in range was not statistically significant; median daily carbohydrate intake was 86 g (68–95) in LC and 130 g (102–173) in MED (p < 0.001). Comparing LC to MED, the median BMI z-score was lower (−0.1 [−0.3 to −0.1] vs. 0.0 [−0.1 to −0.1], p = 0.10), and calcium (p = 0.035) and magnesium intakes (p = 0.030) were lower. These associations did not remain statistically significant after false-discovery-rate correction. The median-adjusted alkaline phosphatase level decreased significantly in the LC group (p = 0.009). The median CTX changed following LC from 395 pg/mL (232–591) to 423 pg/mL (289–591) (p = 0.278); and following MED, from 357 pg/mL (244–782) to 296 pg/mL (227–661) (p = 0.245). P1NP changed in LC from 95 ng/mL (68–112) to 88 ng/mL (62–97) (p = 0.056) and in MED from 76 ng/mL (54–198) to 71 ng/mL (55–122) (p = 0.594). Conclusions: Exploratory analyses of bone turnover markers showed insignificant differences following LC and MED diets.

Background Data regarding glycemic control in children and adolescents with a dual diagnosis of type 1 diabetes mellitus (T1DM) and attention‐deficit/hyperactivity disorder (ADHD) are limited. Objective To compare various aspects of diabetes control among youth with T1DM, between those with and without ADHD. Methods In this cross‐sectional study of youth with T1DM, 39 had ADHD (mean age 14.1 ± 2.8 years) and 82 did not (control group, mean age 12.6 ± 3.3 years). Health‐related quality of life was assessed by a Diabetes Quality of Life (DQOL) questionnaire submitted to their parents. Glycemic data were downloaded from glucometers, pumps, and continuous glucose monitoring systems. HbA1c levels, hospitalizations, and severe hypoglycemic and diabetes ketoacidosis events were retrieved from the medical files. Results Compared to the control group mean HbA1c level of the ADHD group was higher: 8.3 ± 1.1% versus 7.7 ± 1.0% (p = 0.005) and the percent of time that glucose level was in the target range (70–180 mg/dl) was lower: 48 ± 17% versus 59 ± 14% (p = 0.006). Mean glucose and glucose variability were higher in the ADHD group. Youth with ADHD who were not pharmacologically treated had worse HbA1c and more hospitalizations than those who were treated. DQOL did not differ between the control group, the treated ADHD group, and the untreated ADHD‐Group. Conclusions Dual diagnosis of T1DM and ADHD during childhood leads to worse diabetes control, which is more pronounced in the context of untreated ADHD. Healthcare providers should be aware of the difficulties facing youth with T1DM and ADHD in coping with the current intensive treatment of diabetes.

Survivors of childhood cancer are at high risk for developing non-melanoma skin cancer and therefore are firmly advised to avoid or minimize sun exposure and adopt skin protection measures. We aimed to compare sun exposure and protection habits in a cohort of pediatric patients with a history of malignancy to those of healthy controls. Case-control study of 143 pediatric patients with a history of malignancy (aged 11.2±4.6 y, Male = 68, mean interval from diagnosis 4.4±3.8 y) and 150 healthy controls (aged 10.4±4.8 y, Male = 67). Sun exposure and protection habits were assessed using validated questionnaires. Patients and controls reported similar sun exposure time during weekdays (94±82 minutes/day vs. 81±65 minutes/day; p = 0.83), while during weekends patients spent significantly less time outside compared to controls (103±85 minutes/day vs. 124±87 minutes/day; p = 0.02). Time elapsed from diagnosis positively correlated with time spent outside both during weekdays (r = 0.194, p = 0.02) and weekends (r = 0.217, p = 0.01), and there was a step-up in sun exposure starting three years after diagnosis. There was no significant difference regarding composite sun protection score between patients and controls. Age was positively correlated with number of sunburns per year and sun exposure for the purpose of tanning, and was negatively correlated with the use of sun protection measures. Although childhood cancer survivors are firmly instructed to adopt sun protection habits, the adherence to these instructions is incomplete, and more attention should be paid to improve these habits throughout their lives. Since sunlight avoidance may results in vitamin D deficiency, dietary supplementation will likely be needed.

Adequate adrenocortical function is essential for survival in critical illness. Most critically ill patients display elevated plasma cortisol concentrations, which reflects activation of the hypothalamic-pituitary-adrenal axis and is considered to be a homeostatic adaptation. However, many critically ill patients have ‘relative' or ‘functional' adrenal insufficiency, which is characterized by an inadequate production of cortisol in relation to an increased demand during periods of severe stress. Recently, the term ‘critical illness-related corticosteroid insufficiency' (CIRCI) was coined. CIRCI occurs as a result of a decrease in adrenal steroid production or tissue resistance to glucocorticoids. An international task force of the American College of Critical Care Medicine issued recommendations for the diagnosis and management of this condition in adult patients. We review the prevalence, diagnosis, and therapeutic approach to adrenal insufficiency in critically ill children. We found a lack of consensus within the pediatric field as to the optimal approach to CIRCI, and call for an international task force to establish unified guidelines.

Klotho is an aging-modulating protein expressed mainly in the kidneys and choroid plexus, which can also be shed, released into the circulation and act as a hormone. Klotho deficient mice are smaller compared to their wild-type counterparts and their somatotropes show marked atrophy and reduced number of secretory granules. Recent data also indicated an association between klotho levels and growth hormone (GH) levels in acromegaly. We aimed to study the association between klotho levels and GH deficiency (GHD) in children with growth impairment. Prospective study comprising 99 children and adolescents (aged 9.0 ± 3.7 years, 49 male) undergoing GH stimulation tests for short stature (height-SDS = -2.1 ± 0.6). Klotho serum levels were measured using an α-klotho ELISA kit. Klotho levels were significantly lower (p<0.001) among children with organic GHD (n = 11, 727 ± 273 pg/ml) compared to both GH sufficient participants (n = 59, 1497 ± 754 pg/ml) and those with idiopathic GHD (n = 29, 1645 ± 778 pg/ml). The difference between GHS children and children with idiopathic GHD was not significant. Klotho levels positively correlated with IGF-1- standard deviation scores (SDS) (R = 0.45, p<0.001), but were not associated with gender, pubertal status, age or anthropometric measurements. We have shown, for the first time, an association between low serum klotho levels and organic GHD. If validated by additional studies, serum klotho may serve as novel biomarker of organic GHD.

We report a case of a female infant with an elevated 17-hydroxyprogesterone level detected in the newborn screening for 21-hydroxylase deficiency, the most common cause of congenital adrenal hyperplasia. The physical examination was unremarkable including no dysmorphism and no signs of virilisation. In the absence of clinical evidence of androgen excess, as would be expected in a female infant with 21-hydroxylase deficiency, further evaluation was performed and led to the diagnosis of the extremely rare disorder, 3β-hydroxysteroid dehydrogenase deficiency. This case highlights the differential diagnosis of elevated 17-hydroxyprogesterone levels in newborn screening and the importance of correct diagnosis for improving patient care.

Aims  Assess the effectiveness of virtual reality (VR) technology, in reducing pain and anxiety, and improving adherence and glycemic control among children with type 1 diabetes (T1D). Methods Children with T1D, managed with continuous glucose monitoring and insulin pumps, were recruited for a randomized cross-over trial. Children were randomized to one of two interventions for diabetes management: group 1 used VR glasses first and group 2 listened to vocal-guided affective imagery first (audio). After 1 month, the interventions were crossed over. The outcome measures included pain and anxiety assessment, adherence, glycemic control, and patient-reported outcome measures (PROMs) of VR satisfaction and effectiveness. Results  Forty children, mean age 11.4 ± 1.8 years, were participated. During the VR part, the monthly mean pain score compared to the baseline improved in both groups by 30% ( p  = 0.03). A 14% reduction in the state anxiety score was observed from baseline to 1 month in both groups ( p  = 0.009). Glycemic control measures including time in range, time above range, and glucose management indicator improved in both groups during VR part ( p  < 0.004 for all), compared to audio part. After one month, the patient-reported outcome measure (PROM) of satisfaction and effectiveness was sixfold higher after 1 month in group 1 compared to group 2 ( p  = 0.002). Adherence improved for both groups. Conclusions VR was shown to be effective in reducing pain and anxiety, improving adherence, PROM, and glycemic control among children with T1D. We suggest incorporating VR technology in pediatric diabetes clinics to facilitate and improve coping and management of diabetes. Trial registration Trial registration number and date of registration for prospectively registered trials:ClinicalTrials.gov Identifier: NCT05883267, May 10th, 2023.