Delayed diagnosis of congenital hypothyroidism in an adolescent results in avoidable complications: a case report
Keywords:
congenital hypotyroidism, delayed diagnosis, metabolic syndrome.
Abstract
Delayed diagnosis of congenital hyporhyroidism (CH) remains a serious problem. A retrospective analysis of 1,000 CH cases in Turkey found a mean age of 49 months at the time of clinical diagnosis. Only 3.1% of cases were diagnosed during the neonatal period and 55.4% were diagnosed after 2 years of age.1 In Cipto Mangunkusumo Hospital, Jakarta, 53% cases were diagnosed at 1-5 years, 3.3% at 6-12 years, and 6.7% after 12 years of age, while the remainder were diagnosed at < 1 year of age.2 The majority of affected children exhibit signs and symptoms that are highly non-specific, as most infants with CH are asymptomatic at birth, and only 5% of cases can be diagnosed based on clinical examination during the first day of life.3 The other factors that contribute to delayed diagnosis are uneducated parents, who do not notice or dismiss the importance of mild/moderate deviations in physical and mental growth, as well as constipation, feeding difficulties, or other vague, non-specific symptoms in infancy. Parents are often unaware of the importance of early diagnosis and commencement of therapy for CH.4
References
1. Tarim OF, Yordam N. Congenital hypothyroidism in Turkey: a retrospective evaluation of 1,000 cases. Turk J Pediatr. 1992;34:197-202.
2. Deliana M, Batubara JR, Tridjaja B, Pulungan AB. Hipotiroidisme kongenital di bagian ilmu kesehatan anak RS Ciptomangunkusumo Jakarta, tahun 1992-2002. Sari Pediatri. 2003;5:79-84.
3. Pezzuti IL, Lima PP, Dias VM. Congenital hypothyroidism: the clinical profile of affected newborns identified by the Newborn Screening Program of the State of Minas Gerais, Brazil. J Pediatr (Rio J). 2009;85:72-9.
4. Malik BA, Butt MA. Is delayed diagnosis of hypothyroidism still a problem in Faisalabad, Pakistan. J Pak Med Assoc. 2008;58:545-9.
5. Rastogi MV, LaFranchi SH. Congenital hypothyroidism. Orphanet J Rare Dis. 2010;5:17.
6. IAEA. Screening of newborn for congenital hypothyroidism: guidance for developing programmes. Vienna: International Atomic Energy Agency; 2005. p.1-122.
7. Dugbartey AT. Neurocognitive aspects of hypothyroidism. Arch Intern Med. 1998;158:1413-8.
8. Yuca SA. Status for congenital hypothyroidism at advanced ages. 2010 [cited 2014 Feb 21]. Available from: http//www.intechopen.com.
9. Deladoey J, Ruel J, Giguere Y, Vliet GV. Is the incidence of congenital hypothyroidism really increasing? a20-year retrospective population-based study in Québec. J Clin Endocrinol Metab. 2011; 96: 2422-9
10. Jacobsen BB, Brandt NJ. Congenital hypothyroidism in Denmark. Arch Dis Child. 1981;56:134-6.
11. Kementerian Kesehatan RI. Pedoman skrining hipotiroid kongenital. Jakarta: Kemenkes RI; 2012. p.1-38.
12. Hashemipour M, Rostampour N, Nasry P, Hovsepian S, Basiratnia R, Hekmatnia A, et al. The role of ultrasonography in primary congenital hypothyroidism. J Res Med Sci. 2011;16:1122-8.
13. Takashima S, Nomura N, Tanaka H, Itoh Y, Miki K, Harada T. Congenital hypothyroidism: assessment with ultrasound. AJNR Am J Neuroradiol. 1995;16:1117-23.
14. Supakul N, Delaney LR, Siddiqui AR, Jennings SG, Eugster EA, Karmazyn B. Ultrasound for primary imaging of congenital hypothyroidism. AJR Am J Roentgenol. 2012;199:360-6.
15. Shabana W, Delange F, Freson M, Osteaux M, De Schepper J. Prevalence of thyroid hemiagenesis: ultrasound screening in normal children. Eur J Pediatr. 2000;59:456-8.
16. Maiorana R, Carta A, Floriddia G, Leonardi D, Buscema M, Sava L, et al. Thyroid hemiagenesis: prevalence in normal children and effect on thyroid function. J Clin Endocrinol Metab. 2003;88:1534–6.
17. Pantsiouou S, Stanhope R, Uruena M, Preece MA, Grant DB. Growth prognosis and growth after menarche in primary hypothyroidism. Arch Dis Child. 1991;66:838-40.
18. Minamitani K, Murata A, Ohnishi H, Wataki K, Yasuda T, Niimi H. Attainment of normal height in severe juvenile hypothyroidism. Arch Dis Child. 1994;70:429-31.
19. Boersma B, Otten BJ, Stoelinga GB, Wit JM. Catch-up growth after prolonged hypothyroidism. Eur J Pediatr. 1996;155:362–7.
20. Soliman AT, De Sanctis V, Bedair ES. Congenital Hypothyroidism: Effects on Linear Growth, Catch- Up Growth, GH-IGF-I Axis and Bones. In: Eliška Potluková, editor. Current Topics in Hypothyroidism with Focus on Development. Available from: http://www.intechopen.com/books/current-topics-in-hypothyroidism-with-focus-on-development/congenital-hypothyroidism-effects-on-linear- growth-catch-up-growth-gh-igf-i-axis-and-bones. ISBN 978-953-51-0970-9, Published: last accessed February 13, 2013.
21. Bargagna S, Dinetti D, Pinchera A, Marcheschi M, Montanelli L, Presciuttini S, et al. School attainments in children with congenital hypothyroidism detected by neonatal screening and treated early in life. Eur J Endocrinol. 1999;140:407–13.
22. Simoneau Roy J, Marti S, Deal C, Huot C, Robaey P, Van Vliet G. Cognition and behavior at school entry in children with congenital hypothyroidism treated early with high dose levothyroxine. J Pediatr 2004;144:747 52.
23. Rovet JF, Ehrlich R. Psychoeducational outcome in children with early-treated congenital hypothyroidism. Pediatrics. 2000;105:515-21.
24. Rovet J. Long-term follow-up of children born with sporadic congenital hypothyroidism. Ann Endocrinol. 2003;64:58-61.
25. Oerbeck B, Sundet K, Kase VF, Heyerdahl S. Congenital hypothyroidism: influence of disease severity and L-thyroxine treatment on intellectual, motor, and school-associated outcomes in young adults. Pediatrics. 2003;112:923-30.
26. Van der Sluijs Veer L, Kempers MJ, Maurice-Stam H, Last BF, Vulsma T, Grootenhuis MA. Health-related quality of life and self-worth in 10-year-old children with congenital hypothyroidism diagnosed by neonatal screening. Child Adolesc Psychiatry Ment Health. 2012;6:32.
27. Kooistra L, Stemerdink N, van der Meere J, Vulsma T, Kalverboer AF. Behavioural correlates of early-treated congenital hypothyroidism. Acta Paediatr. 2001;90:1141–6.
28. Yuca SA, Cesur Y, Yilmaz C. Congenital primary hypothyroidism diagnosed at advanced age. Nobel Med. 2010;6:74-7.
29. Bauer M, Heinz A, Whybrow PC. Thyroid hormones, serotonin and mood: of synergy and significance in the adult brain. Mol Psychiatry. 2002;7:140–56.
30. Ayna B, Tumen DS, Celenk S, Bolgul B. Dental treatment way of congenital hypothyroidism: case report. Int Dental Med Disorders J. 2008;1:34-6.
31. Rodriguez ME, Garcia MM, Flores IS. Congenital hypothyroidism and its oral manifestations. Revista Odontologica Mexicana. 2014;18:133-8.
32. Chandna S, Bathla M. Oral manifestation of thyroid disorders and its management. Indian J Endocrinol Metab. 2011;15:113-6.
33. Zimmet P, Alberti K George MM, Kaufman F, Tajima N, Silink M, Arslanian S, Wong G, et al; IDF Consensus Group. The metabolic syndrome in children and adolescents – an IDF consensus report. Pediatric Diabetes 2007: 8: 299–306.
34. Chen SY, Lin SJ, Lin SH, Chou YY. Early adiposity rebound and obesity in children with congenital hypothyroidism. Pediatr Neonatal. 2013;54:107-12.
35. Saxena A, Kapoor P, Saxena S, Kapoor AK. Effect of levothyroxine therapy on dyslipidemia in hypothyroid patients. Internet J Med Update. 2013;8:39-49.
36. Rizos CV, Elisaf MS, Liberopoulos EN. Effect of thyroid dysfunction on lipid profile. Open Cardiovasc Med J. 2011;5:76-84.
37. Kalra S, Gandhi A, Kalra B, Agrawal N. Management of dyslipidemia in children. Diabetol Metab Syndr. 2009;1:26.
38. Haney EM, Huffman LH, Bougatsos C, Freeman M, Steiner RD, Nelson HD. Screening and treatment for lipid disorders in children and adolescents: systematic evidence review for the US Preventive Services Task Force. Pediatrics. 2007;120:189-214.
39. Ganji V, Zhang X, Shaikh N, Tangpricha V. Serum 25-hydroxyvitamin D concentration are associated with prevalence of metabolic syndrome and various cardiometabolic risk factors in US children and addolescents based on assay-adjusted serum 25-hydroxyvitamin D data from NHANES 2001-2006. Am J Clin Nutr. 2011;94:225-33.
40. Johnson JA, Grande JP, Roche PC, Kumar R. Immunohisto-chemical localization of the 1,25(OH)2D3 receptor and calbindin D28k in human and rat pancreas. Am J Physiol. 1994;267:356-60.
41. Boucher BJ. Vitamin D insufficiency and diabetes risks. Curr Drug Targets. 2011;12:61-87.
42. Kelishadi R, Salek S, Salek M, Hashemipour M, Movahedian M. Effects of vitamin D supplementation on insulin resistance and cardiometabiolic risk factors in children with metabolic syndrome: a triple-masked controlled trial. J Pediatr (Rio J). 2014;90:28-34.
43. Muderris II, Boztosun A, Oner G, Bayram F. Effect of thyroid hormone replacement therapy on ovarian volume and androgen hormones in patients with untreated primary hypothyroidism. Ann Saudi Med. 2011;31;145-51.
44. Poppe K, Velkeniers B. Female infertility and the thyroid. Best Pract Res Clin Endocrinol Metab. 2004;18:153–65
45. Shu J, Xing L, Zhang L, Fang S, Huang H. Ignored adult primary hypothyroidism presenting chiefly with persistent ovarian cysts: a need for increased awareness. Reprod Biol Endocrinol. 2011;9:119.
2. Deliana M, Batubara JR, Tridjaja B, Pulungan AB. Hipotiroidisme kongenital di bagian ilmu kesehatan anak RS Ciptomangunkusumo Jakarta, tahun 1992-2002. Sari Pediatri. 2003;5:79-84.
3. Pezzuti IL, Lima PP, Dias VM. Congenital hypothyroidism: the clinical profile of affected newborns identified by the Newborn Screening Program of the State of Minas Gerais, Brazil. J Pediatr (Rio J). 2009;85:72-9.
4. Malik BA, Butt MA. Is delayed diagnosis of hypothyroidism still a problem in Faisalabad, Pakistan. J Pak Med Assoc. 2008;58:545-9.
5. Rastogi MV, LaFranchi SH. Congenital hypothyroidism. Orphanet J Rare Dis. 2010;5:17.
6. IAEA. Screening of newborn for congenital hypothyroidism: guidance for developing programmes. Vienna: International Atomic Energy Agency; 2005. p.1-122.
7. Dugbartey AT. Neurocognitive aspects of hypothyroidism. Arch Intern Med. 1998;158:1413-8.
8. Yuca SA. Status for congenital hypothyroidism at advanced ages. 2010 [cited 2014 Feb 21]. Available from: http//www.intechopen.com.
9. Deladoey J, Ruel J, Giguere Y, Vliet GV. Is the incidence of congenital hypothyroidism really increasing? a20-year retrospective population-based study in Québec. J Clin Endocrinol Metab. 2011; 96: 2422-9
10. Jacobsen BB, Brandt NJ. Congenital hypothyroidism in Denmark. Arch Dis Child. 1981;56:134-6.
11. Kementerian Kesehatan RI. Pedoman skrining hipotiroid kongenital. Jakarta: Kemenkes RI; 2012. p.1-38.
12. Hashemipour M, Rostampour N, Nasry P, Hovsepian S, Basiratnia R, Hekmatnia A, et al. The role of ultrasonography in primary congenital hypothyroidism. J Res Med Sci. 2011;16:1122-8.
13. Takashima S, Nomura N, Tanaka H, Itoh Y, Miki K, Harada T. Congenital hypothyroidism: assessment with ultrasound. AJNR Am J Neuroradiol. 1995;16:1117-23.
14. Supakul N, Delaney LR, Siddiqui AR, Jennings SG, Eugster EA, Karmazyn B. Ultrasound for primary imaging of congenital hypothyroidism. AJR Am J Roentgenol. 2012;199:360-6.
15. Shabana W, Delange F, Freson M, Osteaux M, De Schepper J. Prevalence of thyroid hemiagenesis: ultrasound screening in normal children. Eur J Pediatr. 2000;59:456-8.
16. Maiorana R, Carta A, Floriddia G, Leonardi D, Buscema M, Sava L, et al. Thyroid hemiagenesis: prevalence in normal children and effect on thyroid function. J Clin Endocrinol Metab. 2003;88:1534–6.
17. Pantsiouou S, Stanhope R, Uruena M, Preece MA, Grant DB. Growth prognosis and growth after menarche in primary hypothyroidism. Arch Dis Child. 1991;66:838-40.
18. Minamitani K, Murata A, Ohnishi H, Wataki K, Yasuda T, Niimi H. Attainment of normal height in severe juvenile hypothyroidism. Arch Dis Child. 1994;70:429-31.
19. Boersma B, Otten BJ, Stoelinga GB, Wit JM. Catch-up growth after prolonged hypothyroidism. Eur J Pediatr. 1996;155:362–7.
20. Soliman AT, De Sanctis V, Bedair ES. Congenital Hypothyroidism: Effects on Linear Growth, Catch- Up Growth, GH-IGF-I Axis and Bones. In: Eliška Potluková, editor. Current Topics in Hypothyroidism with Focus on Development. Available from: http://www.intechopen.com/books/current-topics-in-hypothyroidism-with-focus-on-development/congenital-hypothyroidism-effects-on-linear- growth-catch-up-growth-gh-igf-i-axis-and-bones. ISBN 978-953-51-0970-9, Published: last accessed February 13, 2013.
21. Bargagna S, Dinetti D, Pinchera A, Marcheschi M, Montanelli L, Presciuttini S, et al. School attainments in children with congenital hypothyroidism detected by neonatal screening and treated early in life. Eur J Endocrinol. 1999;140:407–13.
22. Simoneau Roy J, Marti S, Deal C, Huot C, Robaey P, Van Vliet G. Cognition and behavior at school entry in children with congenital hypothyroidism treated early with high dose levothyroxine. J Pediatr 2004;144:747 52.
23. Rovet JF, Ehrlich R. Psychoeducational outcome in children with early-treated congenital hypothyroidism. Pediatrics. 2000;105:515-21.
24. Rovet J. Long-term follow-up of children born with sporadic congenital hypothyroidism. Ann Endocrinol. 2003;64:58-61.
25. Oerbeck B, Sundet K, Kase VF, Heyerdahl S. Congenital hypothyroidism: influence of disease severity and L-thyroxine treatment on intellectual, motor, and school-associated outcomes in young adults. Pediatrics. 2003;112:923-30.
26. Van der Sluijs Veer L, Kempers MJ, Maurice-Stam H, Last BF, Vulsma T, Grootenhuis MA. Health-related quality of life and self-worth in 10-year-old children with congenital hypothyroidism diagnosed by neonatal screening. Child Adolesc Psychiatry Ment Health. 2012;6:32.
27. Kooistra L, Stemerdink N, van der Meere J, Vulsma T, Kalverboer AF. Behavioural correlates of early-treated congenital hypothyroidism. Acta Paediatr. 2001;90:1141–6.
28. Yuca SA, Cesur Y, Yilmaz C. Congenital primary hypothyroidism diagnosed at advanced age. Nobel Med. 2010;6:74-7.
29. Bauer M, Heinz A, Whybrow PC. Thyroid hormones, serotonin and mood: of synergy and significance in the adult brain. Mol Psychiatry. 2002;7:140–56.
30. Ayna B, Tumen DS, Celenk S, Bolgul B. Dental treatment way of congenital hypothyroidism: case report. Int Dental Med Disorders J. 2008;1:34-6.
31. Rodriguez ME, Garcia MM, Flores IS. Congenital hypothyroidism and its oral manifestations. Revista Odontologica Mexicana. 2014;18:133-8.
32. Chandna S, Bathla M. Oral manifestation of thyroid disorders and its management. Indian J Endocrinol Metab. 2011;15:113-6.
33. Zimmet P, Alberti K George MM, Kaufman F, Tajima N, Silink M, Arslanian S, Wong G, et al; IDF Consensus Group. The metabolic syndrome in children and adolescents – an IDF consensus report. Pediatric Diabetes 2007: 8: 299–306.
34. Chen SY, Lin SJ, Lin SH, Chou YY. Early adiposity rebound and obesity in children with congenital hypothyroidism. Pediatr Neonatal. 2013;54:107-12.
35. Saxena A, Kapoor P, Saxena S, Kapoor AK. Effect of levothyroxine therapy on dyslipidemia in hypothyroid patients. Internet J Med Update. 2013;8:39-49.
36. Rizos CV, Elisaf MS, Liberopoulos EN. Effect of thyroid dysfunction on lipid profile. Open Cardiovasc Med J. 2011;5:76-84.
37. Kalra S, Gandhi A, Kalra B, Agrawal N. Management of dyslipidemia in children. Diabetol Metab Syndr. 2009;1:26.
38. Haney EM, Huffman LH, Bougatsos C, Freeman M, Steiner RD, Nelson HD. Screening and treatment for lipid disorders in children and adolescents: systematic evidence review for the US Preventive Services Task Force. Pediatrics. 2007;120:189-214.
39. Ganji V, Zhang X, Shaikh N, Tangpricha V. Serum 25-hydroxyvitamin D concentration are associated with prevalence of metabolic syndrome and various cardiometabolic risk factors in US children and addolescents based on assay-adjusted serum 25-hydroxyvitamin D data from NHANES 2001-2006. Am J Clin Nutr. 2011;94:225-33.
40. Johnson JA, Grande JP, Roche PC, Kumar R. Immunohisto-chemical localization of the 1,25(OH)2D3 receptor and calbindin D28k in human and rat pancreas. Am J Physiol. 1994;267:356-60.
41. Boucher BJ. Vitamin D insufficiency and diabetes risks. Curr Drug Targets. 2011;12:61-87.
42. Kelishadi R, Salek S, Salek M, Hashemipour M, Movahedian M. Effects of vitamin D supplementation on insulin resistance and cardiometabiolic risk factors in children with metabolic syndrome: a triple-masked controlled trial. J Pediatr (Rio J). 2014;90:28-34.
43. Muderris II, Boztosun A, Oner G, Bayram F. Effect of thyroid hormone replacement therapy on ovarian volume and androgen hormones in patients with untreated primary hypothyroidism. Ann Saudi Med. 2011;31;145-51.
44. Poppe K, Velkeniers B. Female infertility and the thyroid. Best Pract Res Clin Endocrinol Metab. 2004;18:153–65
45. Shu J, Xing L, Zhang L, Fang S, Huang H. Ignored adult primary hypothyroidism presenting chiefly with persistent ovarian cysts: a need for increased awareness. Reprod Biol Endocrinol. 2011;9:119.
Published
2017-04-28
How to Cite
1.
Ihsan I, Rini E. Delayed diagnosis of congenital hypothyroidism in an adolescent results in avoidable complications: a case report. PI [Internet]. 28Apr.2017 [cited 23Dec.2024];57(2):108-6. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/366
Section
Case Report
Authors who publish with this journal agree to the following terms:
Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
Received 2016-08-28
Accepted 2017-04-27
Published 2017-04-28
Accepted 2017-04-27
Published 2017-04-28
