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Pseudohypoparathyroidism 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 PDFParent Reports of Developmental Service Utilization After Newborn Screening.
Int 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 PDFSeasonal Fluctuation in the Incidence of Congenital Hypothyroidism Across Different Temperate Zones of China.
Birth Defects Res
January 2025
National Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University, Chengdu, China.
Background: Seasonality in the incidence of congenital hypothyroidism (CH) has been identified in several countries and different conclusions have been drawn. The objective of this study was to examine whether this seasonality is also observable in China and how it manifests across different temperate zones.
Methods: Data on CH cases and screened neonates between January 1, 2014, and September 30, 2022, by year and season, were sourced from the Chinese Newborn Screening Information System.
Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China.
Int J Neonatal Screen
November 2024
Department of Pediatrics, Chongqing Health Center for Women and Children, Women and Children's Hospital of Chongqing Medical University, Chongqing 401147, China.
Newborn congenital hypothyroidism (CH) screening has been widely used worldwide. The objective of this study was to evaluate the effectiveness of applying biochemical and gene panel sequencing as screening tests for CH and to analyze the mutation spectrum of CH in China. Newborns were prospectively recruited from eight hospitals in China between February and December 2021.
View Article and Find Full Text PDFThe Development of Monoclonal Antibody Against Thyroid-Stimulating Hormone for Congenital Hypothyroidism Screening in Indonesia.
Monoclon Antib Immunodiagn Immunother
December 2024
Endocrinology Division, Department of Pediatrics of Saiful Anwar General Hospital, Universitas Brawijaya, Malang, Indonesia.
Congenital hypothyroidism (CH) is a major health issue that can lead to intellectual disability if not detected and treated earlier. The preliminary screening program for neonatal CH in Indonesia gave a provisional incidence of 1:2513. Newborn screening using a dried blood spot sample is the standard method for CH detection, but it has limitations.
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