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.
METHODS: A cross-sectional study design was conducted in the Gaza Strip. A total of 357 children aged 2-5 years and their mothers aged 18-50 years were recruited. A multistage cluster sampling was used in the selection of the study participants from three geographical areas in the Gaza Strip: Jabalia refugee camp, El Remal urban area, and Al Qarara rural area. A structured questionnaire was used for face- to -face interviews with the respective child's mother to collect sociodemographic information and feeding practice. Anthropometric measurements for children were taken to classify height-for-age (HAZ), while maternal height was measured as well. Descriptive and binary logistic regression analyses were applied to determine the prevalence and associated factors with stunting.
RESULTS: The total prevalence of stunting in this study was 19.6%, with the highest prevalence being (22.6%) in Jabalia refugee camp. It turns out that shorter mothers had increased the odds of stunting in preschool children in the Gaza Strip. Children born to mothers whose height was 1.55-1.60 m or <1.55 m were more likely to be stunted (p = 0. 008), or (p 1.60 m. Moreover, parental consanguinity increased the risk of stunted children (p = 0. 015).
CONCLUSIONS: This study showed the prevalence of stunting was of alarming magnitude in the Gaza Strip. Our results also demonstrated that parental consanguinity and short maternal stature were associated with stunting. Culturally appropriate interventions and appropriate strategies should be implemented to discourage these types of marriages. Policy makers must also raise awareness of the importance of the prevention and control of nutritional problems to combat stunting among children in the Gaza Strip.