Background: congenital hypothyroidism is the third sub-clinic hereditary disease in Mexico. Infants with total or partial underactive thyroid gland presented at birth showed high levels of thyrotropin. This allows identifying patients at risk for developing it through screening tests. The aim was to determinate the incidence of neonatal congenital hypothyroidism in newborns in our hospital as well as set the cut-off value in screening test.
Methods: samples from 4049 cord blood of newborns were processed. TSH was measurement by ELISA. Probands with high values subsequently underwent to confirmatory testing TSH micro-particle immunoassay.
Results: the results showed incidence of hypothyroidism of 1.2 per 1000 newborns. The cut-off value obtained in the screening test was 26.63 mUI/L.
Conclusions: TSH values showed a different distribution compared with previous studies in the Mexican population and also a higher hypothyroidism incidence.
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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 PDFInt 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 PDFBiomed Rep
February 2025
Newborn Screening Center, Foshan Women and Children Hospital, Foshan, Guangdong 528000, P.R. China.
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 PDFInt J Cardiol Congenit Heart Dis
December 2024
Paediatric Diabetes and Endocrine Service, Starship Child Health, Te Toka Tumai Auckland Te Whatu Ora, Auckland, New Zealand.
Objective: Short stature, central hypothyroidism and infertility are common in those with a Fontan circulation. Given that the Fontan circulation often results in hepatic portal venous congestion, we hypothesize that the hypothalamic-pituitary portal circulation is also affected, contributing to subsequent hypothalamic-pituitary axis dysfunction.
Methods: MRI data from the Australian and New Zealand Fontan Registry (86 cases) was compared to 86 age- and sex-matched normal published controls.
Cureus
November 2024
Laboratory Medicine, Fernandez Foundation, Hyderabad, IND.
Introduction Congenital hypothyroidism (CH) is one of the most common, easily treatable, causes of long-term neurodevelopmental complications in children. The prevalence of CH in India is much higher compared to other countries. Although developed countries have well-established neonatal screening programs, a uniform nationwide screening program at birth is still not established in India.
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