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

Many studies reported poorer quality of life (QoL) in youth with diabetes compared to healthy peers. One of the tools used is the Diabetes Quality of Life for Youth(DQoLY) questionnaire in English. A validated instrument in Malay is needed to assess the perception of QoL among youth with diabetes in Malaysia. To translate the modified version, i.e., the DQoLY questionnaire,into Malay and determine its reliability and validity. Translation and back-translation were used. An expert panel reviewed the translated version for conceptual and content equivalence. The final version was then administered toyouths with type 1 diabetes mellitus from the universities and Ministry of Health hospitals between August 2006 and September 2007. Reliability was analysed using Cronbach’s alpha, while validity was confirmed using concurrent validity (HbA1c and self-rated health score). A total of 82 youths with type 1 diabetes (38 males) aged 10-18 years were enrolled from eight hospitals. The reliability of overall questionnaire was 0.917, and the reliabilities of the three domains ranged from 0.832 to 0.867. HbA1c was positively correlated with worry (p=0.03). The self-rated health score was found to have significant negative correlation with the “satisfaction” (p=0.013) and “impact” (p=0.007) domains. The Malay translated version of DQoLY questionnaire was reliable and valid to be used among youths with type 2 diabetes in Malaysia.
Diabetes Mellitus ; Quality of Life ; Adolescent ; Reproducibility of Results ; Malaysia