Actualización sobre detección y manejo clínico | 02 MAY 23

Hipotiroidismo congénito

Es una condición congénita en la cual los niveles de hormona tiroidea son insuficientes para el normal desarrollo y funcionamiento de los tejidos corporales
Autor/a: Susan R. Rose, Ari J. Wassner, Kupper A. Wintergerst, Nana-Hawa Yayah-Jones, Robert J. Hopkin, Janet Chuang, Jessica R. Smith, Katherine Abell, Stephen H. LaFranchi Pediatrics 2023;151(1):e2022060419
INDICE:  1. Texto principal | 2. Referencias bibliográficas
Referencias bibliográficas

1. Rose SR, Wassner AJ, Wintergerst K, et al; American Academy of Pediatrics Section on Endocrinology, AAP Council on Genetics, Pediatric Endocrine Society, American Thyroid Association. Technical report. Congenital hypothyroidism: screening and management. Pediatrics. 2023; 151(1):e2022060420

2. Grosse SD, Van Vliet G. Prevention of intellectual disability through screening for congenital hypothyroidism: how much and at what level? Arch Dis Child. 2011; 96(4):374–379

3. Rastogi MV, LaFranchi SH. Congenital hypothyroidism. Orphanet J Rare Dis. 2010; 5:17

4. Nettore IC, Cacace V, De Fusco C, et al. The molecular causes of thyroid dysgenesis: a systematic review. J Endocrinol Invest. 2013; 36(8):654–664

5. Wassner AJ. Congenital hypothyroidism. Clin Perinatol. 2018; 45(1):1–18

6. Rhee SS, Braverman LE, Pino S, et al. High iodine content of Korean seaweed soup: a health risk for lactating women and their infants? Thyroid. 2011; 21(8):927–928

7. Rose SR, Brown RS, Foley T, et al; American Academy of Pediatrics; Section on Endocrinology and Committee on Genetics, American Thyroid Association; Public Health Committee, Lawson Wilkins Pediatric Endocrine Society. Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics. 2006; 117(6):2290–2303

8. Leger J, Olivieri A, Donaldson M, et al; ESPE-PES-SLEP-JSPE-APEG-APPES-ISPAE; Congenital Hypothyroidism Consensus Conference Group. European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab. 2014; 99 (2):363–384

9. van Trotsenburg P, Stoupa A, Leger J, et al. Congenital hypothyroidism: a 2020-2021 consensus guidelines update an ENDO-European Reference Network (ERN) initiative endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology. Thyroid. 2021; 31(3): 387–419

10. Caldwell KL, Pan Y, Mortensen ME, et al. Iodine status in pregnant women in The National Children’s Study and in U.S. women (15-44 years), National Health and Nutrition Examination Survey 2005-2010. Thyroid. 2013; 23(8):927–937

11. Alexander EK, Pearce EN, Brent GA, et al. 2017 Guidelines of The American Thyroid Association for the diagnosis and management of thyroid disease during pregnancy and the postpartum. Thyroid. 2017; 27(3):315–389

12. Rogan WJ, Paulson JA, Baum C, et al; Council on Environmental Health. Iodine deficiency, pollutant Chemicals, and The Thyroid: new information on an old problem. Pediatrics. 2014; 133(6): 1163–1166

13. Donaldson M, Jones J. Optimising outcome in congenital hypothyroidism; current opinions on best practice in initial assessment and subsequent management. J Clin Res Pediatr Endocrinol. 2013; 5 (Suppl 1): 13–22

14. Olney RS, Grosse SD, Vogt RF Jr. Prevalence of congenital hypothyroidism–current trends and future directions: workshop summary. Pediatrics. 2010; 125 (Suppl 2):S31–S36

15. Fisher DA. Second International Conference on Neonatal Thyroid Screening: progress report. J Pediatr. 1983; 102(5):653–654

16. Gr€uters A, Krude H. Detection and treatment of congenital hypothyroidism. Nat Rev Endocrinol. 2011; 8(2):104–113

17. Ford G, La Franchi SH. Screening for congenital hypothyroidism: a worldwide view of strategies. Best Pract Res Clin Endocrinol Metab. 2014; 28(2):175–187

18. Mitchell ML, Hsu HW, Sahai I; Massachusetts Pediatric Endocrine Work Group. The increased incidence of congenital hypothyroidism: fact or fancy? Clin Endocrinol (Oxf). 2011; 75(6):806–810

19. Deladowey J, Ruel J, Giguere Y, Van Vliet G. Is the incidence of congenital hypothyroidism really increasing? A 20-year retrospective population-based study in Quebec. J Clin Endocrinol Metab. 2011; 96(8):2422–2429

20. Olivieri A, Fazzini C, Medda E; Italian Study Group for Congenital Hypothyroidism. Multiple factors influencing the incidence of congenital hypothyroidism detected by neonatal screening. Horm Res Paediatr. 2015; 83(2):86–93

21. Kaluarachichi DC, Allen DB, Eickhoff JC, et al. Increased congenital hypothyroidism detection in preterm infants with serial newborn screening. J Pediatr. 2019; 207:220–225

22. Clinical and Laboratory Standards Institute. Blood Collection on Filter Paper for Newborn Screening Programmes. Approved Standard, 6HT ed. Wayne, PA: Clinical and Laboratory Standards Institute; 2013

23. McGrath N, Hawkes CP, Mayne P, Murphy NP. Optimal timing of repeat newborn screening for congenital hypothyroidism in preterm infants to detect delayed thyroid-stimulating hormone elevation. J Pediatr. 2019; 205:77–82

24. National Newborn Screening and Genetics Resource Center. 2012-2016 national newborn screening information system. Available at: http://genes-r-us.uHTscsa.edu. Accessed February 19, 2021

25. Connelly KJ, Pierce MJ, Hanna C, La Franchi SH. Detecting congenital central hypothyroidism by newborn screening: difficulty in distinguishing from congenital thyroxine-binding globulin deficiency. Horm Res Paediatr. 2017; 88(5):331–338

26. Beltrao CB, Juliano AG, Chammas MC, et al. Etiology of congenital hypothyroidism using thyroglobulin and ultrasound combination. Endocr J. 2010; 57(7): 587–593

27. Aleksander PE, Breuckner-Spieler M, Stoehr AM, et al. Mean high-dose l-Thyroxine treatment is efficient and safe to achieve a normal IQ in young adult patients with congenital hypothyroidism. J Clin Endocrinol Metab. 2018; 103(4): 1459–1469

28. Schoelwer MJ, Tu W, Zhou J, Eugster EA. Targeted levothyroxine therapy for treatment of congenital hypothyroidism. Endocr Pract. 2017; 23(9):1067–1071

 

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