Methods: We used cross-sectional data on 6759 children and adolescents aged 6-19 years living in Segamat, Malaysia. We compared prevalence estimates for stunting defined using the Centers for Disease Control and Prevention (CDC) and the World Health Organization (WHO) references, using Cohen's κ coefficient. Associations between sociodemographic indices and stunting risk were examined using mixed-effects Poisson regression with robust standard errors.
Results: The classification of children and adolescents as stunted or normal height differed considerably between the two references (CDC v. WHO; κ for agreement: 0.73), but prevalence of stunting was high regardless of reference (crude prevalence: CDC 29.2%; WHO: 19.1%). Stunting risk was approximately 19% higher among underweight v. normal weight children and adolescents (p = 0.030) and 21% lower among overweight children and adolescents (p = 0.001), and decreased strongly with improved household drinking water sources [risk ratio (RR) for water piped into house: 0.35, 95% confidence interval (95% CI) 0.30-0.41, p < 0.001). Protective effects were also observed for improved sanitation facilities (RR for flush toilet: 0.41, 95% CI 0.19-0.88, p = 0.023). Associations were not materially affected in multiple sensitivity analyses.
Conclusions: Our findings justify a framework for strategies addressing stunting across childhood, and highlight the need for consensus on a single definition of stunting in older children and adolescents to streamline monitoring efforts.
PATIENTS AND METHODS: We report two siblings of a healthy but consanguineous Malaysian family presenting with severe short stature caused by CPHD with a variable phenotype. Importantly, at the beginning the girl presented with isolated GHD, whereas the boy was hypothyroid. As the most common gene alterations responsible for CPHD are within either the PROP-1- or the POU1F1- (PIT-1)-gene these two genes were further studied.
RESULTS: Subsequent sequencing of the six exons of the POU1F1-gene allowed the identification of a new N-terminal mutation (Q4ter) in these two children. A substitution of C to T induced a change from a glutamine (CAA) to a stop codon (TAA) in exon 1 of the PIT-1 protein. Both affected children were homozygous for the mutation, whereas the mother and father were heterozygous.
CONCLUSION: We describe two children with autosomal recessive inherited CPHD caused by a new N-terminal located mutation within the PUO1F1-gene. The clinical history of these two children underline the phenotypic variability and support the fact that children with any isolated and/or combined PHD need to be closely followed as at an any time other hormonal deficiencies may occur. In addition, molecular analysis of the possible genes involved might be most helpful for the future follow-up.