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The molecular basis of a total iodide organification defect causing severe congenital hypothyroidism has been elucidated. The defect occurred in a family in which two of five siblings were affected. Thyroid tissue from one patient was available for investigation. The total thyroid peroxidase (TPO) messenger ribonucleic acid level was reduced and consisted mainly of the alternatively spliced form of TPO missing exon 10 (TPO-2). No TPO-1 (wild-type) protein was detected by Western blotting. The TPO-2 translation product of a slightly smaller mol wt was present in thyroid tissue of this patient. TPO activity was absent and thyroglobulin was not iodinated, showing that iodination in vivo did not occur. Denaturing gradient gel electrophoresis and subsequent sequencing revealed in both alleles of the patients a C-->T transition of nucleotide 1708 of the TPO gene, involving a CpG dinucleotide. The mutation introduces a premature termination signal in exon 10 of the TPO gene, preventing the synthesis of enzymatic active peroxidase

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OBJECTIVE: To determine the age at which children gain bladder control and to compare this with the data from 30 years ago. DESIGN: Questionnaires. METHOD: On the basis of the findings of a 1966 study into toilet training in the Eindhoven and de Kempen region, the Netherlands, a questionnaire was drawn up and distributed via 30 child-health clinics in this region to parents of children aged 12-59 months, during the period 1 March-30 June 1996. The results were compared with those of the earlier study. RESULTS: Data from 1176 children could be evaluated (response rate: 65%). In 1996, the median age for bladder control in boys during the day was 32.6 months and 40.5 months for night-time control. In 1996 boys achieved daytime bladder control 6.7 months earlier and night-time control 7.2 months earlier. In 1996, the median age for girls was 29.7 months for daytime control and 35.4 months for night-time bladder control: in 1966 girls achieved daytime and night-time bladder control 8.2 and 4.8 months earlier, respectively. Factors associated with earlier bladder control were: early age at which parents started toilet training, presence of other children in the family, early age at which the child attended a day-care centre, early age at which the child was able to walk. Other factors such as the presence of a complete family set, parental level of education and professional situation did not show a correlation with the age at which the child achieved bladder control. The type of diaper used was an additional factor for bladder control at all ages but was only statistically significant for 3-year-olds, both during the day and during the night. CONCLUSION: Children in the Eindhoven region achieved daytime and night-time bladder control at a significantly later age than 30 years ago. Various factors such as toilet-training age, day-care attendance, family size and type of diaper played a role in this phenomenon