Introduction: ISPAD guidelines recommend continuous glucose monitoring (CGM) as the standard of care for paediatric type 1 diabetes (T1DM). However, a “real-world” adoption gap persists, particularly in resource-limited settings. The Introductions of the study were to evaluate CGM adoption prevalence, identify documented barriers, and compare glycemic outcomes between active and non-active users. Methodology: This retrospective review analyzed electronic medical records (EMR) of 125 paediatric T1DM patients at Hospital Putrajaya (2025). Data included CGM status, insulin delivery method, and documented barriers. Independent T-tests compared mean hemoglobin A1c (HbA1c) between groups, and multivariable logistic regression identified independent predictors of adoption. Results: Cohort mean age was 11.8 ± 3.8 years. Active CGM users were 32.8% (n = 41), of whom 29.3% (n = 12) utilized predominantly automated insulin delivery (AID) systems. The remaining 67.2% (n = 84) were classified as non-active users, comprising both never-users and ex-users (discontinued use). Active users achieved significantly lower mean HbA1c than non-active users (8.73% vs 9.86%; p <0.001), with no significant difference in rates of DKA (p = 0.564) or severe hypoglycemia (p = 0.250). Among never-users, 42.9% lacked documented technology counselling (p = 0.001). Multivariable analysis identified funding source as the sole independent predictor of CGM adoption (adjusted OR = 7.76, p <0.001). While the primary documented barrier was financial (31.0%), a lack of documented barriers was noted in 61.9% of non-active users. Conclusion A substantial technology gap exists, primarily driven by financial access rather than clinical demographics. The difference of 1.13% in HbA1c between groups underscores the need to address financial setbacks to improve technology access in Malaysia and prevent diabetes complications.
Child ; Blood Glucose ; Blood Glucose Self-Monitoring ; Continuous Glucose Monitoring ; Diabetes Mellitus, Type 1

Introduction: Arginine vasopressin deficiency (AVP‑D), previously termed central diabetes insipidus, is a rare paediatric endocrine disorder that may present as an early manifestation of diverse hypothalamic–pituitary conditions. Identifying the underlying etiology is crucial for guiding management and surveillance; however, in some children, the cause remains unresolved, leading to primarily symptomatic treatment. In Malaysia, published literature on paediatric AVP‑D has been limited to isolated case reports, with no cohort‑level data available. This study aims to describe the clinical features, etiological spectrum, and treatment patterns of paediatric AVP-D in a single-centre Malaysian cohort, emphasizing diagnostic yield, unresolved causes, and the central role of neuroimaging. Methodology: A retrospective review was conducted of children diagnosed with AVP-D. Data collected included age at symptom onset, age at presentation, clinical features, etiological classification, neuroimaging findings, comorbidities, treatment modalities, and follow-up outcomes. Descriptive statistics were used for analysis. Results: Twelve children were included, with a median age of 9.8 years; two-thirds were male. Children were referred at a median age of 3.4 years, with presentation ranging from the neonatal period to 10.4 years. Diagnostic delay was minimal overall, although 25% experienced delays exceeding 1 year. The water deprivation test was performed in 33.3% of patients. Magnetic resonance imaging (MRI) was completed in all children and served as the principal determinant of etiology. Structural abnormalities were identified in 50% of the cohort, including semilobar holoprosencephaly (33.3%), Arnold– Chiari I malformation (8.3%), and pituitary stalk interruption syndrome (8.3%). The posterior pituitary bright spot was absent in most patients, and 50% required repeat MRI to clarify evolving neurohypophyseal features. Tumor-related AVP-D accounted for 8.3%, while one-third had no definitive etiology despite imaging. Initial therapy included desmopressin (58.3%), hydrochlorothiazide (25%), and diluted sublingual desmopressin (8.3%), with most requiring dose escalation. Growth impairment occurred in 66.7% of patients, and delayed puberty in 16.7%. Conclusion MRI played a central role in defining etiology, with half of the cohort demonstrating congenital structural abnormalities. Persistent unresolved cases highlight the diagnostic challenges of AVP-D and underscore the importance of early MRI and longitudinal endocrine follow-up.
Child ; Cohort Studies ; Diabetes Insipidus, Neurogenic ; Arginine

Introduction: 45,X/46,XY mosaicism is a rare disorder of sex development characterized by marked phenotypic variability, ranging from typical male or female genitalia to significant genital ambiguity. Data describing long-term clinical outcomes in affected patients remain limited. This study aimed to characterize the phenotypic spectrum and longitudinal outcomes of patients with 45,X/46,XY mosaicism, focusing on growth, associated comorbidities, and gonadal pathology. Methodology: We conducted a retrospective longitudinal study at a tertiary paediatric endocrine referral centre between January 2006 and January 2025. Patients with cytogenetically confirmed 45,X/46,XY mosaicism or related variants were included. Clinical presentation, karyotype, anthropometry, hormonal profiles, imaging findings, and gonadal histology were reviewed. External genital phenotype was quantified using the External Masculinization Score (EMS). Height was expressed as standard deviation scores (SDS) relative to population norms and compared with genetic potential. Results: Fourteen patients (10 males, 4 females) with 45,X/46,XY mosaicism were identified. Ambiguous genitalia was the predominant presenting feature, observed in 11 of 12 patients with available phenotype data. Growth impairment was common; median height SDS was −2.62 (range −3.26 to −2.00) in females and −0.46 (range 0.13 to −1.70) in males, both below expected genetic potential. Associated congenital anomalies were present in 25% of patients, including cardiac and renal abnormalities. Male patients demonstrated variable degrees of undervirilization with a median EMS of 4.5 (3.75–7.25). Müllerian duct remnants were identified in 66% of patients on imaging. Testicular microlithiasis was observed in two males. During follow-up, two patients underwent gender reassignment. Histological analysis of 14 gonads obtained via gonadectomy or biopsy revealed abnormal gonadal architecture in all cases. All intra-abdominal gonads demonstrated streak gonads or dysgenetic testicular tissue. Conclusion 45,X/46,XY mosaicism demonstrates a broad phenotypic spectrum with frequent genital ambiguity, growth impairment, and abnormal gonadal development. The high prevalence of gonadal dysgenesis underscores the importance of careful surveillance and individualized multidisciplinary management guided by clinical, endocrine, and histopathological findings.
Child ; Longitudinal Studies ; Mosaicism

BACKGROUND

The recent COVID-19 pandemic has led to a rise in the incidence of obesity both in children and adults. Studies on the effect of the pandemic on Type 2 diabetes mellitus (T2DM) trends in children are limited. In this study, we aim to evaluate the frequency, clinical characteristics and demographics of newly-diagnosed paediatric T2DM cases 4 years before and after the pandemic.

METHODOLOGY

The frequency and clinical data of patients aged ≤18 years with newly-diagnosed T2DM in 4 tertiary centers in urban Malaysia from 18 March 2016 till 17 March 2020 (pre-pandemic) and 18 March 2020 till 17 March 2024 (postpandemic) was collected.

RESULTS

Seventy-five (75) patients were recorded with newly-diagnosed T2DM pre-pandemic and fifty-four (54) patients were recorded with newly-diagnosed T2DM post-pandemic. There was no significant increase in T2DM cases and diabetic ketoacidosis (DKA) during pandemic and T2DM cases fell to below pre-pandemic levels in the 3rd and 4th year postpandemic. HbA1c and serum glucose were lower post-pandemic than pre-pandemic: 10.1% vs 11.9%, p = 0.008 and 12.0 mmol/L vs 16.1 mmol/L, p = 0.038 respectively.

CONCLUSION

The incidence of T2DM and DKA did not increase during the pandemic and further declined in year 3 and 4 post-pandemic. Lower HbA1c and serum glucose in the post-pandemic group may suggest improved screening services and greater access to medical care.

Human ; Covid-19 ; Diabetic Ketoacidosis ; Diabetes Mellitus, Type 2 ; Obesity