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Central congenital hypothyroidism due to TSHB gene mutation: 25-year follow-up.
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 PDFPseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism.
Endocrinol Diabetes Metab Case Rep
January 2025
Summary: Short stature is a common complaint among pediatric visits and the differential diagnosis is extensive. Although some variations in growth are normal, deviation from normal growth is often the first symptom of chronic disease in children. This is true for hormone abnormalities including growth hormone deficiency, hypothyroidism and glucocorticoid excess.
View Article and Find Full Text PDFA study on neurodevelopmental outcomes in infants with congenital hypothyroidism highlights the importance of periodic developmental assessment.
J Pediatr (Rio J)
January 2025
University of Amsterdam, Emma Children's Hospital Amsterdam University Medical Centers, Department of Pediatric Endocrinology, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; European Reference Network on Rare Endocrine Conditions (Endo-ERN), Amsterdam, The Netherlands.
Introduction: The objective of our study was to determine the prevalence of a delayed thyroid-stimulating hormone (TSH) rise in infants with congenital hypothyroidism (CH) born in Indiana. Additionally, we sought to determine whether there are differences in clinical or demographic factors associated with this delayed cohort compared to those seen in infants detected early.
Methods: Newborn screen (NBS) results were collected for all cases of CH diagnosed between 2012-2022.
Clinical Insight into Congenital Hypothyroidism Among Children.
Children (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.
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