Etiological Yield and Treatment Patterns in Paediatric Arginine Vasopressin Deficiency: A Single-Centre Cohort Study
https://doi.org/10.15605/jafes.041.S1
- Author:
Siti Sarah Ahmad Dardiri
1
;
Nalini M Selveindran
1
;
Sok Bee Lim
1
;
Arini Nuran Md Idris
1
;
Janet YH Hong
1
Author Information
1. Paediatric Endocrine Unit, Hospital Putrajaya
- Publication Type:Journal Article
- MeSH:
Child;
Cohort Studies;
Diabetes Insipidus, Neurogenic;
Arginine
- From:
Journal of the ASEAN Federation of Endocrine Societies
2026;41(S1):125-
- CountryPhilippines
- Language:English
-
Abstract:
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.
- Full text:2026080510161078825OP_P003.pdf
