Congenital hypothyroidism clinical aspects and late consequences

Pediatric Endocrinology Reviews

Volumn 1, Issue SUPLL. 2, 2003, Pages 185-190

  Büyükgebiz, Atilla ^a,b   Gunoz, H ^b   Kurtoglu, S ^b  

^a Department of Pediatric Endocrinology   (Turkey)

^b NONE

Author keywords

Clinical findings; Congenital hypothyroidism; Etiology; Genetics; Late consequences; Outcome; Therapy

Indexed keywords

PENDRIN; SODIUM IODIDE SYMPORTER; THYROGLOBULIN; THYROID PEROXIDASE; THYROTROPIN; THYROTROPIN BETA SUBUNIT; THYROTROPIN RECEPTOR; THYROXINE; THYROXINE BINDING GLOBULIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PAX8; TRANSCRIPTION FACTOR PIT 1; TRANSCRIPTION FACTOR TTF1; TRANSCRIPTION FACTOR TTF2; UNCLASSIFIED DRUG;

AGENESIS; ANTERIOR FONTANEL; ATAXIA; ATTENTION DEFICIT DISORDER; BONE AGE; BONE RADIOGRAPHY; CLINICAL FEATURE; CONFERENCE PAPER; CONGENITAL HYPOTHYROIDISM; DISEASE SEVERITY; ECHOGRAPHY; FOLLOW UP; GENE MUTATION; HUMAN; INBORN ERROR OF METABOLISM; INTELLECTUAL IMPAIRMENT; LEARNING DISORDER; MENTAL DEFICIENCY; MOTOR COORDINATION; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NEWBORN JAUNDICE; NEWBORN SCREENING; NONHUMAN; PREMATURITY; STRABISMUS; SYMPTOM; THYROGLOBULIN BLOOD LEVEL; THYROID DYSGENESIS; THYROID HORMONE SYNTHESIS; THYROID SCINTISCANNING; UMBILICAL HERNIA;

CONGENITAL HYPOTHYROIDISM; HUMANS; INCIDENCE; MENTAL RETARDATION; PREVALENCE; PROGNOSIS; THYROXINE;

EID: 13444257875     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (48)

1. Gruters A, Jenner A, Krude H. Long term consequences of congenital hypothyroidism in the era of screening programmes. Best Practise and Research Clin Endocrinol Metab 2002;16(2):369-382
2. Brown R. The thyroid gland. In: Brook CGD, Hindmarsh PC, eds. Clinical Pediatric Endocrinology. Oxford: Blackwell Sci. Ltd., 2001;288-320
3. Fisher D. Growth and development of hypothyroid infants. In: Stabler B, Bereu B, eds. Therapeutic Outcome of Endocrine Disorders. Massachusetts, Springer, 2000, 221-222
4. Van Vliet G. Thyroid disorders in infancy. In: Lifshitz F, ed. Pediatric Endocrinology. New York: Marcel Dekker Inc., 2003;348-353
5. Bonsers-Schokkins JJ, Koot HM, Wiersma D, Verkerk PE, de Muinck Keizer Schrama SM. Influence of timing and dose of thyroid hormone replacement on the development in infants with congenital hypothyroidism. J Pediatr 2000;136:292-297
6. Kiumar S, Hara Y, Pineau T. T/ebp null mouse: thyroid specific enhancer-binding protein is essential for organogenesis of the thyroid lung ventral forebrain and pituitary. Genes Develop 1996;10:60-69
7. Iwatani N, Mabe H, Devriendt K, Kodama M, Milke T. Deletion of NKX2.1 gene encoding thyroid transcription factor 1 in two siblings with hypothyroidism and respiratory failure. J Pediatr 2000;137:272-276
8. Schuetz BR, Krude H, Bieberman H, van Moers A, Schnabel D, Toennies H, Schwarz S, Neitzel H, Gruters A. Loss of function mutations in the NKX2.1 gene define a new syndrome with CMS, thyroid and lung impairment. Program of the 83rd Annual Meeting of the Endocrine Society, Denver, Colorado, 2001; (abstract OR 43-3)
9. Clifton-Bligh RJ, Wentworth JM, Heinz P, Crisp MS, John R, Lazarus JH, Ludgate M, Chatterjee VK. Mutation of the gene encoding human TTF2 associated with thyroid agenesis, cleft palate and choanal atresia. Nature Genet 1998;19:399-401
10. de Felice M, Ovitt C, Biffali E, Rodriguea-Mallon A, Arra C, Anastassiadis K, Macchia PE, Matthei MG, Mariano A, Scholer H, Macchia V, Di Laura R.A. Mouse model for hereditary thyroid dysgenesis and cleft palate. Nature Genetics 1998;19:395-398
11. Mansouri A, Chowdry K, Gruss P. Follicular cells of the thyroid gland requires PAX8 function. Nature Genetics 1998;19:87-90
12. Sunthornthepvarakul T, Gottschalk ME, Hayashi Y, Refetoff S. Brief report: Resistance to thyrotropin caused by mutations in the thyrotropin receptor gene. N Engl J Med 1995;332:155-160
13. Biebermann H, Schoenberg T, Krude H, Schultz G, Guderman T, Graters A. Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistant congenital hypothyroidism. J Clin Endocrinol Metab 1997;82:3471-3480
14. Levine UA, Jap TS, Hung W. Infantile hypothyroidism in two sibs: an unusual presentation of pseudohypoparathyroidism type 1a. J Pediatr 1985;107:919-922
15. Collu R, Tang J, Castagne J, Lagace G, Mason N, Huot C, Deal C, Devlin E, Faccenda E, Eidne KA, Van Vliet G. A novel mechanism for isolated central hypothyroidism, inactivating mutations in the thyrotropin releasing hormone receptor gene. J Clin Endocrinol Metab 1997;82:1561-1565
16. Chanoine JP, Bourdoux P, DeLange F. Congenital anomalies associated with hypothyroidism. Arch Dis Child 1986;61:1147-1148
17. Fernhoff PM, Brown AL, Elsas L. Congenital hypothyroidism and increased risk of neonatal morbidity results in delayed treatment. Lancet 1987;i:490-491
18. Siebner R, Merlob P, Kaiserman I, Sack J. Congenital abnormalities concomitant with persistant permanent congenital hypothyroidism. Am J Med Genet 1992;44:57-60
19. Gruters A, Liesenkotter KP, Zapico M, Jenner A, Dutting C, Pfeiffer E, Lehmkuhl U. Results of a screening programme for congenital hypothyroidism in Berlin. Experimental Clinical Endocrinology and Diabetes. 1997;105:28-31
20. Devos H, Rodd C, Gayne N, Laframboise R, Van Vliet G. A search for possible mechanisms of thyroid dysgenesis:sex ratios and associated malformations. J Clin Endocrinol Metab 1999;84:2501-2506
21. Roberts HE, Moore CA, Fernhoff PM, Brown AL, Khoury MJ. Population study of congenital hypothyroidism and associated birth defects. Atlanta 1979-1992. Am J Med Genet 1997;71:29-32
22. Kurtoglu S, Caksen H, Per H, Narin N, Uzum K. Asymmetric crying faces and congenital hypothyroidism:reports of two patients. JPEM 2001;14:1177-1181
23. Silva JE, Matthews P. Thyroid hormone metabolism and the source of plasma triiodothyronine in 2 week old rats:effects of thyroid status. Endocrinology 1984;114:2394-2405
24. Constant RB, Weintraub BD. Differences in the metabolic clearance of pituitary and serum thyrotropin (TSH) derived from euthyroid and hypothyroid rats:effects of chemical deglycosylation of pituitary TSH. Endocrinology 1986;119:2720-2727
25. Klein RZ, Mitchell ML. Neonatal screening. In: Braverman LE, Utiger RD, eds. The Thyroid. Philadelphia, Lippincott Williams and Wilkins. 2000;973-977
26. Tillotson SL, Fuggle PW, Smith I, Ades AE, Grant DB. Relation between biochemical severity and intelligence in early treated congenital hypothyroidism: a theresold effect. Br Med J 1994;309:440-445
27. Kooistra L, Laane D, Vulsma T, Schellehens JMH, Vander Meere JJ, Kalverboer AF. Motor and cognitive development in children with congenital hypothyroidism. J Pediatr 1994;124:903-909
28. Glorieux J, Dussault JH, van Vliet G. Intellectual development at 12 years of children with congenital hypothyroidism detected by newborn screening. J Pediatr 1992;121:581-584
29. Abbassi V, Aldige C. Evaluation of L-thyroxine requirement therapy of hypothyroidism. J Pediatr 1977;90:298-301
30. Derksen-Lubsen G, Verkerk PH. Neuropsychological development in early treated congenital hypothyroidism:analysis of literature data. Pediatr Res 1996;39:561-566
31. Rovet JF, Ehrlich RM, Sorbara DL. Neurodevelopmental outcome in infants and preschool children following newborn screening for congenital hypothyroidism. J Pediatr Psychol 1992;17:187-213
32. Gottschalk B, Richman R, Lewandewski L. Subtle speech and motor deficits of children with congenital hypothyroidism treated early. Devel Med Child Neurol 1994;36:216-220
33. Rovet JF. Neurobehavioral consequences of congenital hypothyroidism identified by newborn screening. In: Stabler B, Bercu B, eds. Therapeutic Outcome of Endocrine Disorders. Massachusetts, Springer; 2000, 235-253
34. Fuggle PW, Grant DB, Smith I, Murphy G. Intellegence, motor skills and behaviour of 5 years in early treated congenital hypothyroidism. Europ J Pediatr 1991;150:570-574
35. Rochiccioli R, Roge B, Alexander F. Resultants du developmente psychomoteur des hypothyroides depistees a la naissance. Arch Fr Pediatr 1983;40:537-541
36. Francois M, Bonfils P, Leger J, Czernichow P, Narcy P. Role of congenital hypothyroidism in hearing loss in children. J Pediatr 1994;123:444-446
37. Rovet JF, Walker W, Bliss B, Buchanan L, Ehrlich R. Long term sequelae of hearing impairment in congenital hypothyroidism. Pediatrics 1996;128:776-783
38. Rovet JF. Congenital hypothyroidism. In: Rourke BP, ed. Syndrome of Nonverbal Learning Disabilities: Neurodevelopmental Manifestations. New York: Guilford, 1995;255-281
39. Rovet JF, Ehrlich R, Altmann P. Psychoeducational outcome in children with early treated congenital hypothyroidism. Thyroid 1995;5(suppl 1),584
40. Rovet JF, Ehrlich R. Psychoeducational outcome in children with early treated congenital hypothyroidism. Pediatrics 2000;3:515-522
41. Glasscock GF, Nicoll CS. Hormonal control of growth in the neonatal rat. Endocrinology 1981;109:176-184
42. Bucher H, Prader A, Illig R. Head circumference, height, bone age and weight in 103 children with congenital hypothyroidism before and during thyroid hormone replacement. Helv Pediatr Acta 1985;40:305-316
43. Aronson R, Erhlich RM, Bailey JD, Rovet JF. Growth in children with congenital hypothyroidism detected by neonatal screening. J Pediatr 1990;116:33-37
44. Grant DB. Growth in early treated congenital hypothyroidism. Arch Dis Child 1994;70:464-468
45. Chiesa A, de Papendieck LG, Keselman A, Heinrich JJ, Bergada C. Growth follow up in 100 children with congenital hypothyroidism before and during treatment. J Pediatr Endocrinol 1994;7:211-217
46. Rivkees SA, Bode HH, Crawford JD. Long term growth in juvenile acquired hypothyroidism:the failure to achieve normal adult stature. N Engl J Med 1988;318:599-602
47. Boersma B, Otten BJ, Stoelinga GBA, Wit JM. Catchup growth after prolonged hypothyroidism. Eur J Pediatr 1996;155:362-367
48. Kandemir N, Yordam N. Height prognosis in children with late diagnosed congenital hypothyroidism. Turk J Pediatr 2001;4:303-306