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: Metabolic bone disease of prematurity (MBDP) is characterized by biochemical and radiological findings related to bone demineralization in premature babies. Despite early recognition, MBDP is still a prevalent problem and is associated with significant morbidities in premature babies. This study aims to determine the prevalence and neonatal predictors of MBDP. Methodology: This retrospective cross-sectional study involved premature babies with gestational age ≤32 weeks and birth weight ≤1.5 kg, admitted to Hospital Tunku Azizah, Kuala Lumpur, between January 1, 2020, and January 31, 2024. Babies whose serum phosphate was ≤1.5 mmol/L and serum alkaline phosphatase >500 IU/L at 3–6 weeks of age fulfilled the diagnosis of MBDP. The maternal and neonatal characteristics of the study population were retrieved from the medical records. Neonatal predictors for MBDP were analyzed by simple and multiple logistic regression. Results: A total of 292 subjects were enrolled. The prevalence of MBDP was 13.4%. On simple logistic regression, male gender, low gestational age, poor APGAR score, delayed enteral feed initiation, prolonged TPN, delayed vitamin D supplementation, use of unfortified expressed breast milk, patent ductus arteriosus, and bronchopulmonary dysplasia, cholestasis, prolonged hospital stay, and prolonged ventilation were risk factors for MBDP (p <0.05). On multiple logistic regression, only cholestasis (p 0.014), prolonged TPN use (p <0.001), and prolonged hospitalization (p <0.001) were independent neonatal predictors for MBDP. Conclusion The risk of MBDP can be reduced by shortening TPN duration and hospitalization duration and preventing cholestasis. This may be achieved by early enteral feeding initiation and use of fortified EBM, thus preventing the development of MBDP.
Infant, Newborn ; Prevalence ; Bone Diseases, Metabolic ; Hospitals

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

Introduction: Type 1 diabetes mellitus (T1DM) is an autoimmune disorder that requires a lifelong treatment regimen which may affect psychosocial development. Objective: To identify behavioural and emotional problems in children and adolescents with T1DM. Methodology: A cross-sectional study using the Child Behaviour Check List (CBCL) was conducted among all T1DM patients receiving treatment at the Paediatric Endocrine Unit, Hospital Tunku Azizah Kuala Lumpur, Malaysia. Results: Forty T1DM patients were included. The mean age of the participants was 12.4 years (SD=2.69), with 52.5% males, and 75% Malay. The average duration of illness was 4.8 years, 9 were pre-pubertal, while mean HbA1c was 9.4%. Thirty-five percent of the respondents had parent-reported internalizing problems and 17.5% had parent-reported externalizing problems. Those >12 years old had more internalizing problems (p=0.004) compared to those ≤12 years old. The differences were in the anxious/depressed syndrome subscale (p=0.001) and withdrawn/depressed syndrome subscale (p=0.015). There were no statistically significant differences in the 3 main global scores by gender, glycaemic control, duration of illness and pubertal status by univariate analysis. Conclusion T1DM patients >12 years old were at higher risk of developing psychosocial difficulties. This highlighted the benefit of screening of behavioural and emotional issues in children and adolescents with T1DM.
Diabetes Mellitus, Type 1