Abstract
Objective: To analyze the characteristics of Congenital Hypothyroidism (CH). Bibliographic review: Congenital hypothyroidism is the most common congenital endocrine disorder. In this disease, the function of iodine-containing hormones is disrupted due to inadequate production of thyroid hormone which can be a result of an inborn error of thyroid metabolism, defect in the gland or iodine deficiency. It is currently one of the most prevalent endocrine diseases in childhood. Affecting approximately 1:2,000 to 1:4,000 live births. Most children with CH are born with few symptoms or asymptomatic, being diagnosed through neonatal screening, which was proposed to allow an early diagnosis and prevent mental retardation, one of the main complications of CH. Final considerations: Congenital CH is the most common treatable cause of mental retardation. This is a disease that requires screening of all live births between the 3rd and 5th day of life through neonatal screening tests. Treatment with Levothyroxine should be started within a maximum of 14 days of birth and treatment failure imposes many socioeconomic costs on individuals, families and society.
References
ANDRADE CLO, et al. Congenital hypothyroidism as a risk factor for central hearing process disorders. Rev Paul Pediatr, 2019; 37(1): 82-89.
BRAGA H, et al. Congenital hypothyroidism as a risk factor for hearing and parents' knowledge about its impact on hearing. J Otol, 2021; 16(2): 71-79.
BRITO LNS, et al. Adhesion to treatment by children with congenital hypothyroidism: knowledge of caregivers in bahia state, brazil. Revista Paulista de Pediatria, 2021; 39: e2020074.
CHAMMAS MC. Determination of thyroid volume by ultrasound: a valuable tool for the investigation of congenital hypothyroidism. Radiol Bras, 2021; 54(3): VII.
CHRISTENSEN-ADAD FC, et al. Neonatal screening: 9% of children with filter paper thyroid-stimulating hormone levels between 5 and 10μIU/mL have congenital hypothyroidism. J Pediatr (Rio J), 2017; 93(6): 649-654.
EBRAHIMIPOUR H, et al. Implementing the six sigma model on the treatment of congenital hypothyroidism: An analytical hierarchy process. Med J Islam Repub Iran, 2021; 35: 121.
EHSANI R, et al. Evaluation of the developmental outcome in children with congenital hypothyroidism. Caspian J Intern Med, 2021; 12(3): 315-322.
FREZZATO RC, et al. Fine motor skills and expressive language: a study with children with congenital hypotyreoidism. Codas, 2017; 29(1): e20160064.
GALERA RML, et al. Neonatal screening for congenital hypothyroidism. Rev Esp Salud Publica, 2021; 95: e202101010.
HASHEMIPOUR M, et al. Screening of congenital hypothyroidism in preterm, low birth weight and very low birth weight neonates: A systematic review. Pediatr Neonatol, 2018; 59(1): 3-14.
HUANG R, et al. An interpretation of "congenital hypothyroidism: a 2020-2021 consensus guidelines update-an ENDO-European Reference Network initiative endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology". Zhongguo Dang Dai Er Ke Za Zhi, 2021; 23(11): 1075-1079.
KIESS W, et al. Congenital hypothyroidism. J Pediatr Endocrinol Metab, 2018; 31(6): 595-596.
KOPEL J. A global perspective on newborn congenital hypothyroidism screening. Proc (Bayl Univ Med Cent), 2019; 33(1): 137-139.
LAU CS, et al. Screening for Congenital Hypothyroidism. Ann Acad Med Singap, 2020; 49(12): 934-936.
MINAMITANI K. Newborn Screening for Congenital Hypothyroidism in Japan. Int J Neonatal Screen, 2021; 7(3): 34.
SÁNCHEZ AR, et al. Diagnosis and follow-up of patients with congenital hypothyroidism detected by neonatal screenin]. An Pediatr (Engl Ed), 2019; 90(4): 1-8.
SARMENTO OJJ, et al. Teste de triagem neonatal: o diagnóstico precoce de doenças metabólicas e genéticas . Rease, 2022; 8(5): 1649-60.
SHEN L, DING J. Serological Characteristics, Etiological Analysis, and Treatment Prognosis of Children with Congenital Hypothyroidism. Emerg Med Int, 2022; 2022: 8005848.
SOUZA AS, et al. Etiologia do hipotireoidismo congênito e sua distribuição nas macrorregiões do estado de minas gerais. Revista Interdisciplinar Ciências Médicas, 2018; 2(2): 22-28.
STAGI S, et al. An Overview on Different L-Thyroxine (l-T4) Formulations and Factors Potentially Influencing the Treatment of Congenital Hypothyroidism During the First 3 Years of Life. Front Endocrinol (Lausanne), 2022; 13: 859487.
TAHAN S, et al. Untreated Congenital Hypothyroidism Mimicking Hirschsprung Disease: A Puzzling Case in a One-Year-Old Child. Case Rep Pediatr, 2018; 2018: 9209873.
TROTSENBURG PV, et al. Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology. Thyroid, 2021; 31(3): 387-419.
UTHAYASEELAN K, et al. Congenital Anomalies in Infant With Congenital Hypothyroidism: A Review of Pathogenesis, Diagnostic Options, and Management Protocols. Cureus, 2022; 14(5): e24669.
YARAHMADI S, et al. Familial-Related Risks for Congenital Hypothyroidism in Iranian Newborns: A Population-Based Case-Control Study. Int J Endocrinol Metab, 2021; 19(1): e104889.
YARAHMADI S, et al. A Success Story: Review of the Implementation and Achievements of the National Newborn Screening Program for Congenital Hypothyroidism in Iran. Int J Endocrinol Metab, 2020; 18(2): e99099.
ZHANG J, LI Y. Risk factors for neonatal congenital hypothyroidism: a Meta analysis. Zhongguo Dang Dai Er Ke Za Zhi, 2021; 23(5): 505-512.
ZHANG Y, et al. Newborn screening for congenital hypothyroidism: A 13-year observational study. An Pediatr (Engl Ed), 2020; 93(1): 50-52.
