Special articleSecond International Conference on NeonatalThyroid Screening: Progress report
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Congenital isolated central hypothyroidism: Novel mutations and their functional implications
2021, Handbook of Clinical NeurologyCitation Excerpt :The most common cause of primary congenital hypothyroidism is thyroid dysgenesis, a group of entities including absence (thyroid agenesis), hypoplastic development (thyroid hypoplasia), and misplacement (thyroid ectopy) of the thyroid gland. Approximately 80%–85% of cases of congenital primary hypothyroidism is due to dysgenesis, with a third due to thyroid ectopy (Fisher, 1983). Mutations in several genes are associated with dysgenesis, including genes coding for transcription factors involved in thyroid gland morphogenesis (PAX8, NKX2–1, FOXE1, NKX2–5, and HHEX), and thyroid differentiation (TSHR).
Epidemiologic characteristics and risk factors for congenital hypothyroidism from 2009 to 2018 in Xiamen, China
2020, Endocrine PracticeCitation Excerpt :The etiology of CH includes genetic and various environmental factors, and the incidence is geographically and ethnically varied. The traditional incidence is 1/3,000 to 1/4,000 (1). In recent years, the incidence of CH has shown a global upward trend.
White matter microstructural abnormalities in children with severe congenital hypothyroidism
2019, NeuroImage: ClinicalReduced Hepatocellular Expression of Canalicular Transport Proteins in Infants with Neonatal Cholestasis and Congenital Hypopituitarism
2018, Journal of PediatricsCitation Excerpt :This prevalence is lower than the 5% reported in general pediatric single-center series.2,24 The incidences of congenital hypopituitarism and SOD in the general pediatric population are reported as 1 in 100 00025 and 10.9 in 100 000,26 respectively. Infants with primary adrenal insufficiency vary in severity of cholestasis, although isolated ACTH deficiency (secondary hypoadrenalism) has not been documented in patients with cholestasis.2,5
Global prevalence of congenital hypothyroidism among neonates from 1969 to 2020: a systematic review and meta-analysis
2023, European Journal of PediatricsEpidemiological profile of congenital hypothyroidism at a southern Brazilian state
2023, Archives of Endocrinology and Metabolism