Since June 1977 to June 1980 screening program for neonatal hypothyroidism was carried out in the area of Vicence. 6.340 newborns were screening, in the fifth day of life, primarily by measuring T4 levels, later by measuring both T4 and TSH levels in the blood serum. Three babies were proved to have neonatal hypothyroidism: two cases showed athyreotic hypothyroidism, and one case was due to familial thyroid dyshormonogenesis. The incidence of this condition in our area is much higher than 1:3.000 newborns. Two cases of familial deficit of thyroxine-binding globulin and two subjects with partial enzymatic deficiency were also detected.
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BMJ Case Rep
January 2025
Endocrinology Department, Sri Ramachandra Institute of Higher Education and Research, Chennai, India
TSHB gene mutation results in isolated central congenital hypothyroidism (iCCH). Often diagnosed late, mild neurocognitive impairment is common despite thyroxine initiation. We discuss a female term neonatal presenting with prolonged unconjugated hyperbilirubinaemia.
View Article and Find Full Text PDFChildren (Basel)
January 2025
Department of Pediatrics, Division of Pediatric Endocrinology, Izmir Faculty of Medicine, University of Health Sciences, 35210 Izmir, Turkey.
Molecular, genetic, and technological advances have led to increased knowledge regarding neonatal thyroid hormone metabolism disorders. Maternal and fetal hypothyroidism, which can cause psychomotor dysfunction syndromes or low IQ levels, can lead to brain damage, reduced fetal growth and incidental fetal death. The treatment of congenital hypothyroidism detected by screening programs performed during the neonatal period provides normalization of growth, IQ levels, and the physical, mental, and motor development of infants.
View Article and Find Full Text PDFEur Thyroid J
January 2025
A Heijboer, Department of Laboratory Medicine, Endocrine Laboratory, Amsterdam, 1105AZ, Netherlands.
Thyroid hormone (TH) is essential for brain development in utero and during the first two to three years of life. The negative effects of TH deficiency on brain development are irreversible. Early detection of TH deficiency in neonates (congenital hypothyroidism (CH) through newborn screening (NBS)) allows for early treatment, thereby preventing brain damage.
View Article and Find Full Text PDFInt J Neonatal Screen
December 2024
RTI International, 3040 E. Cornwallis Road, Research Triangle Park, P.O. Box 12194, Research Triangle Park, NC 27709, USA.
Newborn screening (NBS) presents an opportunity to identify a subset of babies at birth who are at risk for developmental delays and could benefit from a range of developmental services. Potential developmental services in the United States include Part C Early Intervention (EI), private therapies, and school-based services. Using parent-reported outcomes, this study examined the rates at which a sample of children diagnosed with NBS conditions used each developmental service.
View Article and Find Full Text PDFActa Endocrinol (Buchar)
January 2025
Adıyaman Training and Research Hospital, Department of Pediatric Endocrinology, Adıyaman, Turkey.
Context: Congenital hypothyroidism (CH) is one of the most common preventable causes of intellectual disability, and can be diagnosed in the early period through neonatal screening programs.
Objective: The purpose of this study was to determine the prevalence of CH and recall rates in the province of Adıyaman.
Design: This retrospective study evaluated the data of newborn screening program in Adıyaman province between January 2015 and December 2020.
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