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Research Article: A Case-Control Study of the Relationship Between Genetic Polymorphism and Cretinism in Xinjiang

Date Published: 2023-08-23

Abstract:
Congenital hypothyroidism is an endocrine disorder caused by insufficient thyroid hormone production or receptor deficiency, which results in severe physical and mental retardation as well as low metabolic levels in children. Children with congenital hypothyroidism typically show no clinical symptoms or very mild ones during the neonatal period. Lack of thyroid hormones during fetal brain development can lead to severe brain dysfunction, which can manifest as severe sensory and motor disorders and mental retardation. Neonatal screening is the primary method for patient detection and diagnosis. Early diagnosis and treatment with thyroid hormone replacement does not interfere with the normal physical and nervous system development of the patient. In China, the incidence of congenital hypothyroidism is approximately /, with a higher incidence among females than males. Anterior neck enlargement due to goiter is a rare symptom of congenital hypothyroidism. Thyroid dysplasia, thyroxine synthesis and secretion disorder, thyroxine transport disorder, thyroxine metabolism disorder, thyrotropin/thyroxine resistance, and central hypothyroidism are typical causes of cretinism. The vast majority of thyroid hypoplasia cases are isolated incidents. Gene mutations have been linked to some cases, but the underlying pathogenic mechanisms remain unknown. NK homeobox (NKX.), paired box (PAX), NK homeobox (NKX-), forkhead box E (FOXEl), and thyroid stimulating hormone receptor (TSHR) have been identified as pathogenic genes in related research on hypothyroidism. Studies on gene abnormalities associated with thyroid hormone synthesis have focused primarily on thyroid peroxidase (TPO), dual oxidase (DUOX), dual oxidase maturation factor (DUOXA), TG, solute carrier family member (SLCA), solute carrier family member (SLCA), and others.

Introduction:
Congenital hypothyroidism is an endocrine disorder caused by insufficient thyroid hormone production or receptor deficiency, which results in severe physical and mental retardation as well as low metabolic levels in children. Children with congenital hypothyroidism typically show no clinical symptoms or very mild ones during the neonatal period. Lack of thyroid hormones during fetal brain development can lead to severe brain dysfunction, which can manifest as severe sensory and motor disorders and mental…

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