Turner syndrome (TS) is a chromosomal condition associated with partial or complete absence of the X chromosome that involves characteristic findings in multiple organ systems. In addition to well-known clinical characteristics such as short stature and gonadal failure, TS is also associated with T cell immune alterations and chronic otitis media, suggestive of a possible immune deficiency. Recently, ubiquitously transcribed tetratricopeptide repeat on the X chromosome (UTX), a histone H3 lysine 27 (H3K27) demethylase, has been identified as a downregulated gene in TS immune cells. Importantly, UTX is an X-linked gene that escapes X-chromosome inactivation and thus is haploinsufficient in TS. Mice with T cell-specific UTX deficiency have impaired clearance of chronic viral infection due to decreased frequencies of T follicular helper (Tfh) cells, which are critical for B cell antibody generation. In parallel, TS patients have decreased Tfh frequencies in peripheral blood. Together, these findings suggest that haploinsufficiency of the X-linked UTX gene in TS T cells underlies an immune deficit, which may manifest as increased predisposition to chronic otitis media.

Studies would indicate a reduction in hemoglobin A1c levels following moderate and/or vigorous physical activity (PA) for people managing diabetes. However, prior investigations rarely looked at glucose variability in an adolescent population. Purpose: The purpose of this investigation was to test the relationship between physical activity intensity levels and glucose variability in a sample of adolescents with type 1 diabetes mellitus, and if the amount of time accumulated for each intensity level is predictive of changes in glucose variability. Methods: Glucose variability was determined using continuous glucose monitor data and physical activity intensity time was retrieved through Fitabase®. Both glucose and physical activity data were collected over a two-week timeframe. Data analysis was completed using Pearson’s correlation and a simple linear regression with a p-value of 0.05 to determine significance. Results: A significant inverse relationship was observed (p = 0.04) between glucose variability and average minutes of daily moderate-intensity activity (r = −0.59), as well as moderate and vigorous physical activity (MVPA) combined (r = −0.86; p = 0.03). A simple linear regression indicated that only MVPA was a significant predictor of glucose variability (β = −0.12; 95% CI: −0.23–−0.01, p = 0.03). Conclusion: These data demonstrated that the total amount of daily physical activity is important when properly managing type 1 diabetes mellitus, but time spent in MVPA over two weeks may have an inverse relationship with glucose variability in children and adolescents over a span of two weeks.

Hypophosphatasia (HPP) is a rare, inherited metabolic bone disorder characterized by low serum alkaline phosphatase activity and impaired bone mineralization. Clinical manifestations and severity of symptoms vary widely in HPP, ranging from in utero death to isolated dental manifestations in adults. Treatment with enzyme replacement therapy has been reported to improve outcomes in perinatal, infantile, and childhood forms of HPP. Here, we present a case of a boy with poor linear growth, mild limb bowing, and radiographic rickets who was diagnosed with HPP before 6 months of age. Treatment with enzyme replacement therapy was initiated at 7 months of age, after which significant improvements in radiographic findings and linear growth were demonstrated. This case highlights several important challenges in the diagnosis, classification, and management of HPP.

Background: Continuous glucose monitors (CGMs) are widely used for individuals with diabetes mellitus, particularly those with type 1 diabetes (T1D). Advancements in CGM technology allow for glycemic assessment without capillary glucose measurements as many come factory calibrated. However, exercise, an essential component of diabetes care, has been reported to alter accuracy of earlier generation CGM. Considering the importance of physical activity for individuals with T1D and the progression of CGM technology, we aimed to investigate the accuracy of the Dexcom G6 during physical activity. Methods: Adolescents (ages 13-20 years) exercised on a treadmill for 40 minutes, with a 10-minute break at minute 20. We obtained paired CGM and glucometer measurements before and every 10 minutes during and after exercise. Accuracy analysis was determined by mean absolute relative difference (MARD), mean absolute difference (MAD), and Clarke Error Grid Analyses. Results: Mean absolute relative difference and MAD increased during exercise (14%-33% and 24.3-34 mg/dL) but improved after exercise. We noted certain CGM locations produced greater changes in accuracy as MARD and MAD increased markedly when the CGM was on the buttocks (18%-46% and 30-41 mg/dL). We also noted decreased odds of Zone A in the Clarke error grid when the CGM was on the buttocks compared to the abdomen (odds ratio [OR]: 0.146; P = 0.0003; 95% CI = 0.052-0.415). Conclusions: This CGM system showed alterations in accuracy during exercise. Our findings additionally suggest interstitial fluid changes in muscles during exercise alter accuracy of CGM; however, additional research is required.

Assessing maximal oxygen uptake (VO2 max) is generally considered safe when performed properly for most adolescents; however, for adolescents with type 1 diabetes mellitus (T1DM), monitoring glucose levels before and after exercise is critical to maintaining euglycemic ranges. Limited guidance exists for glucose level recommendations for the pediatric population; therefore, the purpose of this retrospective clinical chart review study was to determine the effects of VO2 max testing on blood glucose levels for adolescents with T1DM. A total of 22 adolescents (mean age = 15.6 ± 1.8 years; male = 13, 59.1%) with a diagnosis of T1DM participated in a Bruce protocol for VO2 max from January 2019 through February 2020. A statistically significant reduction in glucose levels between pretest (<30 min, mean = 191.1 mg/dL ± 61.2) and post-test VO2 max (<5 min, mean = 166.7 mg/dL ± 57.9); t(21) = 2.3, p < 0.05) was detected. The results from this current study can help guide health and fitness professionals in formulating glycemic management strategies in preparatory activities prior to exercise testing and during exercise testing.

Current technology commonly utilized in diabetes care includes continuous glucose monitors (CGMs) and insulin pumps. One often overlooked critical component to the human glucose response is daily physical activity habits. Consumer-based activity monitors may be a valid way for clinics to collect physical activity data, but whether or not children with type 1 diabetes (T1D) would wear them or use the associated mobile application is unknown. Therefore, the purpose of this study was to test the feasibility of implementing a consumer-based accelerometer directly into ongoing care for adolescents managing T1D. Methods: Adolescents with T1D were invited to participate in this study and instructed to wear a mobile physical activity monitor while also completing a diet log for a minimum of 3 days. Clinical compliance was defined as the number of participants who were compliant with all measures while also having adequate glucose recordings using either a CGM, insulin pump, or on the diet log. Feasibility was defined as >50% of the total sample reaching clinical compliance. Results: A total of 57 children and teenagers between the ages of 7 and 19 agreed to participate in this study and were included in the final analysis. Chi-square results indicated significant compliance for activity tracking (p < 0.001), diet logs (p = 0.04), and overall clinical compliance (p = 0.04). Conclusion: More than half the children in this study were compliant for both activity monitoring and diet logs. This indicates that it is feasible for children with T1D to wear a consumer-based activity monitor while also recording their diet for a minimum of three days.

Subcutaneous fat necrosis (SCFN) is an unusual source of hypercalcemia in neonates. This condition is self-limiting; however, hypercalcemia can occur as a sequela. Severe hypercalcemia can result in increased morbidity and mortality. Several modalities of treatment for hypercalcemia subsequent to SCFN have been explored, including the use of bisphosphonates, particularly pamidronate. We briefly review SCFN, recognition of this uncommon dermatological phenomenon, as well as hypercalcemia resultant from SCFN and its current management strategy. Furthermore, we report a case series of two patients treated successfully with intravenous pamidronate in conjunction with other treatment modalities.

In this study, we present the case of a 5-year-old female who presented for evaluation of dehydration with labs that revealed significant hypernatremia concerning for diabetes insipidus (DI). Further evaluation revealed that she had underlying chronic malnutrition. Her diagnostic work up for DI produced some evidence consistent with DI while other data indicated otherwise, bringing up the possibility of partial DI. She was ultimately diagnosed with sporadic vasopressin release secondary to her chronic malnutrition. This case illustrates another effect chronic malnutrition can have on pediatric patients along with the importance of a broad differential for patients with severe hypernatremia.