Objective: In Iran thyroid-stimulating hormone (TSH) based neonatal screening program is included in health care services from 2005 for detection of patients with primary congenital hypothyroidism (CH). This study was performed for a critical evaluation of the screening program primary congenital hypothyroidism in Fars province, Iran.
Methods: From November 2006 to September 2007, TSH serum concentrations of 63031 newborns, 3 to 5 days old born in Fars province, were measured by heel prick. The newborns with TSH ≥5mIU/L were recalled for measurement of serumT(4) and TSH in venous blood samples
Findings: Of 127 recalled subjects, 43 were confirmed to be hypothyroid, showing a prevalence of 1:1465 with F:M ratio of 1.05:1. The most common clinical and radiological findings were prolonged jaundice (73%), large anterior fontanel (56%), wide posterior fontanel (55%), absence of distal femoral epiphysis (20%), and umbilical hernia (11%). Scintigraphy of the thyroid with (99m)TC revealed eutopia (67.4%), hypoplasia (23.3%), agenesis (4.7%) and ectopia (2.3%).
Conclusion: It is concluded that a cut off value of TSH≥5mIU/L overestimates recalling the number of patients with CH. The most common cause of congenital hypothyroidism is not dysgenesis of the gland and perhaps dyshormonogenesis in Iran is more common than what is reported in other countries.
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Endokrynol Pol
March 2025
Medical Genetics Department and Prenatal Diagnosis Centre, The Affiliated Hospital of Qingdao University, Qingdao, China.
Background: Congenital hypothyroidism (CH) is the most common neonatal disorder, primarily caused by thyroid dysgenesis (TD). While the genetic cause has been identified in less than 5% of TD cases, there is an urgent need to investigate additional gene mutations that may be responsible. In 2018, TUBB1 was identified as a novel candidate gene associated with TD.
View Article and Find Full Text PDFInt J Endocrinol Metab
April 2024
Liver and Digestive Research Center, Research Institute for Health Development, Kurdistan University of Medical Sciences, Sanandaj, Iran.
Background: Congenital hypothyroidism is the most common preventable and treatable cause of intellectual disability in children. A key component of the surveillance system for congenital hypothyroidism is ensuring a regular treatment program for affected children. Despite nearly 20 years since the successful implementation of the newborn screening program for hypothyroidism in Iran, a comprehensive evaluation of patients' adherence to treatment has not been conducted.
View Article and Find Full Text PDFJ Coll Physicians Surg Pak
March 2025
Department of Pathology and Laboratory Medicine, The Aga Khan University, Karachi, Pakistan.
The purpose of this communication was to assess the clinical effectiveness of a newborn screening (NBS) programme for congenital hypothyroidism (CH) in a tertiary care centre. This cross-sectional study was conducted from January 2019 to December 2023. Thyroid-stimulating hormone (TSH) on dried blood spot (DBS) specimens collected after 24 hours of birth with >10 mIU/L was further confirmed by testing serum TSH and FT4, and CH cases were referred to a paediatric endocrinologist for management.
View Article and Find Full Text PDFJ Pediatr (Rio J)
March 2025
Universidade Federal de Minas Gerais, Hospital das Clínicas, Serviço de Endocrinologia Pediátrica, Belo Horizonte, Minas Gerais, Brazil; Universidade Federal de Minas Gerais, Faculdade de Medicina, Departamento de Pediatria, Belo Horizonte, Minas Gerais, Brazil.
Objective: The objective of this study was to determine the incidence of congenital hypothyroidism (CH) in Minas Gerais, Brazil, and evaluate the development of the Minas Gerais Neonatal Screening Program (PTN-MG) over the past 30 years.
Method: This was a retrospective longitudinal cohort study since the implementation of neonatal screening for CH, in 1994. Bloodspots on filter paper are collected, between the third and fifth day of life, at primary healthcare units, with a TSH threshold of 10 mIU/L.
This manuscript reviews the evolution of newborn screening for primary congenital hypothyroidism (CH) and explores future strategies to enhance diagnostic accuracy. Over the past few decades, newborn screening has expanded globally, significantly reducing the incidence of severe forms of the disease. However, challenges persist, especially regarding the overdiagnosis of mild cases of primary CH, which may not require treatment.
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