Introduction: X-linked hypophosphatemia (XLH) is a rare genetic disorder caused by PHEX mutations, characterized by chronic hypophosphatemia and renal phosphate wasting, resulting in skeletal, dental, and extra-skeletal complications. To date, no data from Malaysia are currently available on clinical characteristics or health-related quality of life (HRQoL) in paediatric patients. Methodology: This cross-sectional study evaluated HRQoL among children and adolescents with XLH, using validated PROMIS (PatientReported Outcomes Measurement Information System) instruments, sociodemographic and clinical factors associated with HRQoL. This includes children and adolescents with confirmed XLH followed up at Universiti Malaya Medical Centre (UMMC) between November 2024 and March 2025. Results: Seventeen patients were analyzed (76.5% female and 23.5% male). The mean age at symptom onset was 2.82 ± 2.42 years, with a mean age at diagnosis of 5.21 ± 3.29 years. All patients continued to have musculoskeletal complications, including short stature (76.5%), bowing of legs (76.5%), bone/joint pain (47.1%), muscle pain (47.1%), and dental complications (52.9%). Serum alkaline phosphatase improved significantly (p = 0.011); persistent hypophosphatemia and ongoing musculoskeletal manifestations indicated suboptimal disease control. Elevated parathyroid hormone levels and an increase in urine calciumto-creatinine ratio (p = 0.020) lead to secondary hyperparathyroidism and nephrocalcinosis. Adherence to conventional therapy was poor. Non-adherence was associated with worse pain outcomes (higher pain interference [p = 0.037] and greater pain intensity [p = 0.025]). PROMIS scores revealed severely impaired mobility (mean T-score 31.31 ± 12.17), increased fatigue (mean T-score 54.22 ± 7.60), and high pain interference (mean T-score 63.11 ± 9.50). Larger household size was also strongly associated with higher pain intensity (p = 0.004). Conclusion Malaysian children and adolescents with XLH continue to have significantly poor HRQoL, particularly in mobility, fatigue, and pain. These findings highlight the need for access to targeted therapies, such as burosumab, to improve long-term outcomes and QOL in XLH patients.
Adolescent ; Child ; Familial Hypophosphatemic Rickets ; Malaysia ; Quality of Life

Introduction: Adolescents with type 1 diabetes (T1D) are vulnerable to diabetes-related distress (DRD), an emotional burden that may adversely affect glycemic control. Data on DRD among adolescents in Southeast Asia, particularly Malaysia, remain limited. This study aims to determine the prevalence of DRD and examine its association with glycemic control and sociodemographic background among Malaysian adolescents with T1D. Methodology: This cross-sectional study recruited adolescents aged 10–19 years with T1D attending a tertiary Paediatric Endocrine Clinic in Malaysia between May and August 2025. DRD was assessed using two validated instruments: the Problem Areas in Diabetes–Teen version (PAID-T) and the Type 1 Diabetes Distress Scale (T1-DDS). Sociodemographic and clinical data, including glycated hemoglobin (HbA1c), were collected. Associations between distress, glycemic control, and other variables were analyzed using non-parametric tests, correlation analyses, and multiple linear regression. Results: Seventy adolescents participated (median age: 14.65 years). Moderate to severe DRD was reported by 32.9% using PAID-T and 38.6% using T1-DDS. Higher distress scores on both instruments were significantly correlated with poorer current and prior HbA1c levels. Adolescents with HbA1c ≤7.0% were more likely to report minimal distress compared to those with higher HbA1c (p = 0.042, T1-DDS). Subdomain analyses revealed strong associations between emotional distress domains, particularly powerlessness and family/friends distress, and higher HbA1c. In multivariable regression, DRD, body mass index, and family/friends distress together explained 35% of the variance in HbA1c. Attendance at diabetes management camps was not associated with differences in distress levels. Conclusion Approximately one-third of Malaysian adolescents with T1D experience clinically significant DRD, which is strongly associated with suboptimal glycemic control. Emotional and family-related distress appear to play a particularly important role. Routine screening and targeted psychosocial interventions should be integrated into adolescent diabetes care to improve both emotional well-being and metabolic outcomes.
Adolescent ; Humans ; Diabetes Mellitus, Type 1