Objective: To evaluate in a cohort of infants with congenital hypothyroidism (CH): (a) the frequency of bone maturation (BM) retardation at birth and (b) whether BM delay at birth may be considered as a tool to make a prognosis of psychomotor status at the age of 1 Year, irrespective of other variables related to treatment.
Design: BM at birth, CH severity and developmental quotient (DQ) at the age of 1 Year were retrospectively evaluated in 192 CH infants selected by the following inclusion criteria: (a) gestation age ranging between 38 and 42 weeks; (b) onset of therapy within the first Month of life; (c) initial thyroxine (l-T(4)) dosage ranging from 10 to 12 microg/kg/day; (d) normalization of serum thyrotropin (TSH) levels before the age of 3 Months; (e) Monthly adjustments of l-T(4) dose during the first Year of life with serum TSH levels ranging from 0.5 to 4 mIU/l; (f) no major diseases and/or physical handicaps associated with CH; (g) availability of both thyroid scanning and knee X-rays at the time of treatment initiation; (h) availability of DQ assessment at an average age of 12 Months.
Methods: BM was considered normal if the distal femur bony nucleus diameter exceeded 3 mm (group A) or retarded if either this nucleus was absent (subgroup B1) or its diameter was <3 mm (subgroup B2). DQ was evaluated with the Brunet-Lezine test.
Results: In 44.3% of cases BM was either delayed (23.5%) or severely delayed (20.8%). The risk of BM retardation was higher in the patients with athyreosis than in the remaining patients (41/57 vs 44/135, chi(2)=25.13, P<0.005). BM-retarded infants showed a more severe biochemical picture of CH at birth and a lower DQ at the age of one Year compared with the group A patients. If compared with infants of subgroup B2 those of subgroup B1 exhibited significantly lower T(4) levels at birth and a more frequent association with athyreosis (70.0 vs 30.0%; chi(2)=7.49, P<0.01), whereas DQ was superimposable in both subgroups.
Conclusions: (a) BM at birth is delayed in almost half of CH patients and (b) CH severity per se can affect DQ at the age of 1 Year irrespective of other variables related to therapy.
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http://dx.doi.org/10.1530/eje.0.1490001 | DOI Listing |
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 PDFInt 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.
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