Context: The increase in the incidence of congenital hypothyroidism (CH) reported worldwide may partly be explained by an increase in the transient form of CH.
Objective: We aimed to estimate the proportion of transient CH (TCH) in France, and to identify associated neonatal and young child characteristics.
Methods: We used probabilistic record linkage to link children with eutopic gland born between 2006 and 2012 recorded in the national French CH registry and the French national health data system (SNDS). Of the 703 children recorded, 484 (68.8%) were linked. We retrospectively examined reimbursement for oral levothyroxine (LT4) between January 1, 2006, and December 31, 2017. Children who had discontinued treatment for 6 months or more before December 31, 2017, were classified as having TCH. We used a Cox model to examine the factors associated with TCH.
Results: Among the main study sample (n = 471), 53.5% were female, 14.2% were preterm, and 13.8% had low birth weight. One-quarter (n = 111, 24.3%) had mild CH (thyroid-stimulating hormone [TSH] < 50 mU/L, serum) at diagnosis and a median LT4 dose at treatment initiation of 30 μg/day. One-third (n = 155, 32.9%) had TCH. Premature birth (adjusted hazard ratio = 2.1 [1.0-4.2]), a TSH < 50 mU/L at CH screening (7.4 [3.2-17.1]), LT4 dose received at 12 months of age (0.98 [0.97-0.99, P = 0.003]), congenital cardiac malformations (6.6 [1.5-29.0]), and year of birth (1.2 [1.1-1.4]) were all associated with TCH.
Conclusion: One-third of the children had TCH, and it was associated with several characteristics at birth and postpartum. These data are useful for CH medical management and epidemiological surveillance.
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http://dx.doi.org/10.1210/clinem/dgab854 | DOI Listing |
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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