Molecular and clinical characteristics of congenital hypothyroidism in a large cohort study based on comprehensive thyroid transcription factor mutation screening in Henan

Li, Liangshan; Jia, Chenlu; Li, Xiaole; Wang, Fang; Wang, Yangang; Chen, Yanping; Liu, Shiguo; Zhao, Dingxin

doi:10.1016/j.cca.2021.03.015

Cited by 6 publications

(2 citation statements)

References 39 publications

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“…The gene panel contains eight CH-related causative genes including TG, TPO, TSHR, GLIS3, BOREALIN, NTN1, JAG1 and TUBB1. Genetic screenings for other known pathogenic genes such as DUOX system genes and thyroid transcription factor (TTF) genes have been reported by our team 14,15 .…”

Section: Introductionmentioning

confidence: 99%

Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism

Wang

et al. 2022

Endocrine

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BackgroundCongenital hypothyroidism (CH) is a common neonatal endocrine disorder, characterized by irreversible intellectual disability and short stature if left untreated.It can be divided into thyroid dysgenesis (TD), including athyreosis, ectopy and hypoplasia, and dyshormonogenesis (DH), also referring to gland in situ (GIS), in which patients have eutopic thyroids with normal size or goiter. This study aims to analyze the clinical and genetic data of the 606 patients with TD or GIS, and to explore the mutation frequencies of the eight genes and the inheritance pattern of CH. MethodsTargeted next generation sequencing (NGS) and statistical analysis were performed for mutation screening on eight CH-related genes and the comparison of clinical data in a cohort of 606 Chinese CH patients from Henan Province. ResultsA total of 208 variants were detected in genes required for thyroid formation (TSHR, GLIS3, BOREALIN, NTN1, JAG1 and TUBB1) and thyroid hormone synthesis (TG and TPO) in 167 subjects. Monogenic variants were the most prevalent with a percentage of 73.56% (153/208) followed by digenic variants (24.52%, 51/208) and oligogenic variants (1.92%, 4/208). However, no differences were found in various clinical data between patients with and without variants, as well as between patients with monogenic variants and non-monogenic variants. ConclusionsOur results suggested that apart from Mendelian monogenic inheritance, digenic and oligogenic inheritance of CH could not be excluded and also involves other factors, such as penetrance, epigenetic mechanisms and environmental factors.

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Section: Introductionmentioning

confidence: 99%

Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism

Wang

et al. 2022

Endocrine

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“…The thyroid gland has a high sensitivity to exogenous and endogenous influences and the ability to morphologically rearrange tissue [6,7]. In clinical practice, synthetic glucocorticoids such as dexamethasone are used to accelerate fetal maturation in pregnant women at risk of preterm birth [8,9,10]. Antenatally glucocorticoids mimic the effects of endogenous elevation of plasma cortisol, which is usually observed in the fetus, close to the date of birth [11].…”

Section: Introductionmentioning

confidence: 99%

Morphofunctional transformations during the morphogenesis of the thyroid gland of the offspring of Wistar rats after intrauterine exposure to dexamethasone

Fedosieieva

Bushman

Necheporenko

2021

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Background. In recent years, the prevalence of thyroid pathologies of various origins among children in the world has reached a significantly high level. The use of glucocorticoids during pregnancy remains a debatable issue in obstetrics today, as they can both positively and negatively affect the processes of organ morphogenesis and be the cause of pathological conditions in the postnatal period. Objective: to establish the features of morphofunctional transformations during the morphogenesis of the thyroid gland of the offspring of rats at an early age in normal and after intrauterine action of dexamethasone. Methods. 108 thyroid glands of rats of 3 experimental groups were microscopically examined using histological and immunohistochemical methods, followed by statistical processing of the obtained results. Results. Against the background of high levels of total follicular thyrocytes per 1 day of life in animals that received prenatal dexamethasone, cytoplasmic expression of TgAb was expressed, which correlated with the indicators of nuclear and cytoplasmic Fox-1 expression. From the 7th to the 11th day, a decrease in the total number of thyrocytes per unit area was observed due to the accumulation of colloid in the follicles, an increase in Fox-1 cytoplasmic expression and a decrease in nuclear expression, against the background of increased proliferative activity. By day 21, Fox-1 cytoplasmic and nuclear expression were almost identical. There was a decrease in the intensity of TgAb expression in the cytoplasm of thyrocytes and its expression in the colloid, a decrease in the number of Ki-67 positive thyrocytes per conditional unit area compared with the previous observation period. Conclusion. It was found that prenatal exposure of dexamethasone causes the offspring accelerate the development of morphological structures of the thyroid gland, but functionally they are in a state of stress of both the synthesizing apparatus and the process of hormone excretion, which is expressed in the imbalance of immunohistochemical expression of Fox-1 and TgAb. Such thyrocytes with signs of disturbances in synthetic activity desquamate into the lumen of the follicles, while on the 11th day we compensatory increase in the proliferative activity of the thyroid epithelium.

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Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China

Zhang

Shen

et al. 2023

Clinica Chimica Acta

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Molecular and clinical characteristics of congenital hypothyroidism in a large cohort study based on comprehensive thyroid transcription factor mutation screening in Henan

Cited by 6 publications

References 39 publications

Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism

Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism

Morphofunctional transformations during the morphogenesis of the thyroid gland of the offspring of Wistar rats after intrauterine exposure to dexamethasone

Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China

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