The authors evaluate the different organizational strategies of a congenital hypothyroidism screening program. Positive and negative aspects of laboratory screening tests (TSH only, T4-supplemental TSH, TSH and T4), organization strategies (centralization or decentralization), recall and first follow-up criteria are examined. The authors consider that the necessity for an early diagnostic confirmation can be associated with a precise etiologic diagnosis and an evaluation of the prenatal severity of congenital hypothyroidism factors. Some European and North-American experiences are compared with the activity of a regional Italian screening center.
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Eur 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 PDFJ Clin Res Pediatr Endocrinol
January 2025
Cam and Sakura City Hospital Department of Pediatrics, Division of Pediatric Endocrinology, Istanbul, Turkey.
Objectives: Neudesin is a newly discovered protein mainly secreted from adipose tissue and the brain. It plays a role as a neurotrophic factor in the brain and a negative regulator of energy expenditure. Neurodevelopmental delay and cognitive dysfunction are common features in cases with congenital hypothyroidism (CH) without treatment.
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 PDFJ Pediatr Endocrinol Metab
January 2025
Pediatrics, Fondazione IRCCS San Gerardo Dei Tintori, Monza, Italy.
Objectives: Moebius syndrome (MS) is a rare congenital non-progressive rhombencephalic disorder mostly characterised by abducens and facial nerve palsy, but with a multifaceted clinical presentation. Isolated or multiple pituitary hormone deficiencies in the setting of MS have been occasionally reported, but the simultaneous involvement of three or more hypothalamic-pituitary axes has never been described. We hereby report the case of a girl with MS that showed a co-occurrence of GH-, TSH- and ACTH-deficiency.
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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