Diazoxide-related Hyperglycemic Hyperosmolar State in a Child With Kabuki Syndrome.

Diazoxide is a commonly used first-line medication for the treatment of hyperinsulinism. Hyperglycemia may occur with diazoxide use. However, hyperglycemic hyperosmolar state (HHS) secondary to diazoxide is an exceedingly rare but potentially life-threatening adverse effect. We present a case of a 2-year-old with Kabuki syndrome and hyperinsulinism on diazoxide. She presented with 4 days of fever, respiratory symptoms, and lethargy. She was influenza B positive. Initial workup indicated HHS, with an elevated serum glucose (47.1 mmol/L [847.8 mg/dL]; reference range 3.9-6.0 mmol/L; 70-108 mg/dL), serum osmolality (357 mmol/kg H2O; reference 282-300 mmol/kg H2O) but absent urine ketones and no metabolic acidosis (venous pH 7.34). Her course was complicated by an acute kidney injury. Management in the hospital included discontinuation of diazoxide and intravenous fluid resuscitation, following which hyperglycemia and hyperosmolarity resolved. No insulin therapy was required. She remained normoglycemic without diazoxide for 2 weeks but subsequently required restarting of diazoxide for hypoglycemia. This case highlights the need for early recognition and prompt management of diazoxide-related HHS to reduce negative outcomes. We present the first case report of a child with Kabuki syndrome and hyperinsulinism with diazoxide-induced HHS.

Gender diversity among adolescents with obesity in a weight management programme.

Gender dysphoria (GD) and obesity share commonalities, including associations with mental health comorbidities, disordered eating, body dissatisfaction and may intensify with physical and developmental changes during adolescence. While associations of obesity and gender diversity have been identified, rates of gender diversity among adolescents with obesity remain unclear. The aim was to examine gender diversity among adolescents with obesity in a weight management programme. A single-centre cross-sectional questionnaire study was conducted. Eligible adolescents received the Gender Identity/GD Questionnaire for Adolescents and Adults (GIDYQ-AA), a validated instrument measuring gender diversity and GD. Gender identities, sexual orientations, questionnaire scores, and frequency of GD (GIDYQ-AA score <3) were determined. The relationship of GIDYQ-AA scores and BMI Z-score (BMIz) was assessed. Of 72 consenting youth, 29 assigned females (AF) and 17 assigned males (AM) completed GIDYQ-AA and demographic questions. Seventeen (59%) AF reported non-heterosexual orientations, and 6 (21%) reported non-cisgender identities. One (6%) AM reported non-cisgender identity. Two (4%) AF individuals had GD based on GIDYQ-AA scores. GIDYQ-AA scores did not correlate with BMIz. In conclusion, adolescents with obesity, particularly AF with non-heterosexual orientation, reported high rates of non-cisgender identity and GD. Routine screening for gender-related concerns in weight management settings may be warranted.

Mediating Effects of Technology-Based Therapy on the Relationship Between Socioeconomic Status and Glycemic Management in Pediatric Type 1 Diabetes.

Background: Socioeconomic disparities exist related to accessibility and uptake of diabetes technologies that impact glycemic management. The aims of this study were to describe diabetes technology use (continuous subcutaneous insulin infusion [CSII] and continuous glucose monitoring [CGM]) in children with type 1 diabetes (T1D) and assess the mediating effects of each technology on the relationship between socioeconomic status (SES) and glycemic management. Methods: Single-center retrospective cross-sectional study of children aged 0-18 years (n = 813) with T1D and valid postal codes between 2018 and 2020. Extracted data were linked to validated census-based material deprivation (MD) quintiles. Exposures included MD and technology use (CSII, CGM), whereas the primary outcome was glycemic management (HbA1c). Results: Of 813 patients included, 379 (46.6%) and 246 (30.3%) individuals used CGM and CSII, respectively. Real-time CGM (rtCGM) and CSII were associated with both MD and HbA1c, but intermittently scanned CGM (isCGM) was not. There was a difference in HbA1c of +1.17% between patients from the most (Q5) and least deprived (Q1) MD quintile (P < 0.0001), and significant mediating effects for rtCGM and CSII use, but not isCGM. rtCGM use and CSII use accounted for 0.14% (P < 0.0001) and 0.25% (P < 0.0001) of the difference in HbA1c between patients from Q1 and Q5 quintiles (indirect effects), representing 12.0% and 23.1% of this difference, respectively. Conclusions: CSII and rtCGM use partially mediated the significant discrepancies observed with SES and glycemic management, highlighting potential benefits of broader access to these technologies to improve diabetes outcomes and help mitigate the negative impact of deprivation on diabetes management.