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The long-term research topic is clinical and fundamental research in congenital hypothyroidism (CH). This work is linked to the neonatal screening on CH, and deals with the prevention of irreversible brain damage due to pre- and/or postnatal lack (or excess, or both) of thyroxine, and/or lack of cortisol. The Dutch CH screening is unique in the world, since not only thyroid disorders are detected, but also hypothalamic/pituitary defects, usually with multiple pituitary hormone deficiencies (MPHD). In recent years we have demonstrated that the Dutch screening appoach is very succesful in minimizing morbidity, and eliminating mortility in infants with central CH/MPHD.

Research lines:
1. Effect evaluation of the treatment of Dutch children with CH detected by neonatal screening, especially cognitive and motor development in relation to etiology, severity and treatment protocols. Long-term developmental follow-up of several nation-wide cohorts of children and young adults with various types of CH.
2. Permanent hypothalamic/pituitary/thyroid (HPT) axis set point alteration in CH: pathogenesis and consequences for long-term thyroxine treatment. Studies in patients (brain function and metabolism under different thyroxine treatment strategies), and laboratory animals (molecular determinants of HPT axis set point regulation in rats after moderate to severe fetal hypothyroidism).
3. Cognitive and motor development in Down syndrome children after thyroxine or placebo treatment during their first 2 years of life. Observational study with cognitive and motor development as main study parameters in 181 10.5 years old Down syndrome children who participated in the Down syndrome thyroxine trial between June 1999 and October 2003.
4. Endocrine adverse effects in the first 5 years after treatment for childhood cancer. Aim: to improve the knowledge about the risk and risk factors of endocrine late effects after treatment for childhood cancer in the first 5 years after the end of treatment. Method(s): single center, cross-sectional and prospective endocrine evaluation of 300 and 120 children respectively, in the first 5 years after the end of their cancer treatment.