Objective: To determine the prevalence of congenital hypothyroidism (CH), permanent and transient CH.

Methods: From November 2006 to September 2007, 63031 newborns were screened by measuring serum TSH obtained by heel prick. The neonates who had a TSH≥5mU/L were recalled for measurement of serum T(4), thyroid stimulating hormone (TSH) and TSH receptor blocking antibodies (TRBAb) in venous samples. In 43 primarily diagnosed as cases of CH, treatment was discontinued at age 2-3 years for 4 weeks and T(4) and TSH were measured again. Permanent or transient CH was determined from the results of these tests and radiologic evaluation.

Findings: The incidence of congenital hypothyroidism was found to be 1:1465 with a female to male ratio of 1.19:1. The most common clinical findings were prolonged jaundice (73%), large anterior fontanel (56%) and wide posterior fontanel (55%). In 43 patients with CH, prevalence of permanent and transient form of the disorder was 53.6% and 46.4% respectively. Permanent CH was associated with higher initial TSH level than transient hypothyroidism (P<0.001). The most common etiology of permanent CH was dyshormonogenesis (57%). TRBAb was found in 6.8% of the total 43 cases.

Conclusion: Congenital hypothyroidism in Iran may have different etiologies. Due to higher rate of transient CH than other similar researches, it is reasonable to follow these patients for a longer period to rule out the possibility of permanent hypothyroidism.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446167PMC

Publication Analysis

Top Keywords

congenital hypothyroidism
12
permanent transient
12
tsh
5
hypothyroidism etiologies
4
etiologies iran?
4
iran? objective
4
objective determine
4
determine prevalence
4
prevalence congenital
4
permanent
4

Similar Publications

Functional characterization of novel compound heterozygous missense gene variants causing congenital dyshormonogenic hypothyroidism.

Front Endocrinol (Lausanne)

January 2025

Departamento de Bioquímica Clínica, Facultad de Ciencias Químicas, Universidad Nacional de Córdoba, Córdoba, Argentina.

Introduction: The sodium/iodide symporter (NIS) mediates active iodide accumulation in the thyroid follicular cell. Biallelic loss-of-function variants in the NIS-coding gene cause congenital dyshormonogenic hypothyroidism due to a defect in the accumulation of iodide, which is required for thyroid hormonogenesis.

Objective: We aimed to identify, and if so to functionally characterize, novel pathogenic gene variants in a patient diagnosed with severe congenital dyshormonogenic hypothyroidism characterized by undetectable radioiodide accumulation in a eutopic thyroid gland, as well as in the salivary glands.

View Article and Find Full Text PDF

Typical endocrine disrupting chemicals in newborns with congenital hypothyroidism: Concentrations, exposure assessment, and potential risks.

J Hazard Mater

December 2024

State Key Laboratory of Environmental Chemistry and Ecotoxicology, Research Center for Eco-Environmental Sciences, Chinese Academy of Sciences, Beijing 100085, China; School of Environment, Hangzhou Institute for Advanced Study, UCAS, Hangzhou 310024, China; Hubei Key Laboratory of Environmental and Health Effects of Persistent Toxic Substances, School of Environment and Health, Jianghan University, Wuhan 430056, China; College of Resources and Environment, University of Chinese Academy of Sciences, Beijing 100049, China. Electronic address:

Congenital hypothyroidism (CH) has been reported as a prevalent endocrine disorder in newborns. Endocrine disrupting chemicals (EDCs) have been widely detected in humans and can influence endocrine function, especially thyroid function, and neonates as a susceptible population may be more prone to suffer from CH through exposure to various EDCs. In this study, the concentrations and composition profiles of several typical EDCs were determined in 266 serum samples collected from newborns with (n = 136) and without CH (n = 130) in Beijing, China from 2018 to 2020.

View Article and Find Full Text PDF

Newborn Screening for Six Primary Conditions in a Clinical Setting in Morocco.

Int J Neonatal Screen

December 2024

Laboratory of Genomic, Epigenetics, Precision and Predictive Medicine, School of Medicine, Mohammed VI University of Sciences and Health, Casablanca 82403, Morocco.

Unlabelled: Newborn screening (NBS) represents an important public health measure for the early detection of specified disorders; such screening can prevent disability and death, not only from metabolic disorders but also from endocrine, hematologic, immune, and cardiac disorders. Screening for critical congenital conditions affecting newborns' health is a great challenge, especially in developing countries such as Morocco, where NBS program infrastructure is lacking. In addition, the consanguinity rate is high in Morocco.

View Article and Find Full Text PDF

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 PDF

Congenital hypothyroidism (CH) is a common neonatal endocrine disorder that is characterized by irreversible neurodevelopmental and growth retardation due to insufficient biosynthesis of thyroid hormones at birth. Determining the causative genetic variants in infants is important for neonatal management. It was aimed to evaluate the variant frequencies and spectrum of CH in the neonatal population of Foshan, China.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!