Research in Congenital Hypothyroidism, Softcover reprint of the original 1st ed. 1989
NATO Science Series A: Series, Vol. 7

Systematic screening for congenital hypothyroidism in the newborn was introduced some 15 years ago. The main objective was the prevention of mental retardation due to thyroid hormone deficiency during the early months of life. During the past decade screening programs have become routine throughout most of the industrialized world and many questions relating to implementation, organization and quality control of such programs have been largely resolved. Preliminary IQ and neurological data have indicated that screening and early treatment do, in fact, prevent mental retardation. However, a number of scientific questions related to congenital hypothyroidism remain unanswered and extensive research activities are ongoing in the field. The objective of the organizers of the Brussels workshop was to focus almost exclusively on these current research aspects of the screening programs. This workshop is the third international conference specifically devoted to neonatal thyroid screening. The first was held in La Malbaie in Quebec in the fall of 1979. That meeting was well organized and highly productive. Its proceedings constitute a bible in the field. After the Quebec meeting, we witnessed major and rapid advances in our understanding of neonatal thyroid physiology as well as screening methodology, organiza­ tion, data management, the significance of an approach to false negative and false positive results,patient follow-up, and assessment of follow-up and treatment, and the psychoneurological evaluation of affected infants. Some of these aspects were further developed during a second highly pro­ ductive international conference organized in Tokyo in 1982.

1. Physiopathology.- Placental transfer of substances from mother to fetus affecting fetal pituitary-thyroid function.- Transfer of thyroid hormones from the mother to the fetus.- Role of the placenta in fetal thyroid homeostasis.- Role of maternal carrier proteins in the supply of thyroid hormones to the feto-placental unit: evidence of a feto-placental requirement for thyroxine.- Maturation of thyroid hormone actions.- Regulation of intracellular thyroid hormone concentrations in the fetus.- Action of thyroid hormones on brain development.- Physiopathology — Panel discussion Moderator.- 2. Etiology.- Transient hypothyroidism in infants due to maternal TSH-receptor blocking antibodies. Character of their IgG and long-term prognosis of their infants.- Sporadic and endemic congenital hypothyroidism: evidence for autosensitization.- Thyroid growth blocking antibodies and congenital hypothyroidism.- TSH-blocking antibodies and congenital hypothyroidism.- Congenital hypothyroidism and autoimmunity. Panel discussion.- 3. Diagnosis.- Congenital defects associated with congenital hypothyroidism.- Resistance to thyroid hormones and screening for high thyroxine at birth.- Iodine nutrition and congenital hypothyroidism.- Scintigraphy in congenital hypothyroidism.- Cervical ultrasound in congenital hypothyroidism.- Neonatal echographic findings in congenital hypothyroidism.- Thyroglobulin and congenital hypothyroidism.- Significance of early diagnostic data in congenital hypothyroidism.- 4. Therapy and Neuropsychointellectual Development.- Problems in the management of patients with infantile hypothyroidism.- Treatment strategy and long term follow-up of congenital hypothyroidism.- Intellectual outcome in hypothyroid children screened at birth.- Intellectual and neuropsychological assessment of children with congenital hypothyroidism.- Mental development of patients with congenital hypothyroidism detected by screening. Quebec experience.- Neonatal thyroid screening: now we are nine.- Neurological development in congenital hypothyroidism.- 5. Abstracts of the Posters Session.- Abstracts n° 1 to 38.- 6. Summary and Recommendations.- Speakers.- Discussants.- Author Index.