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Volumn 17, Issue 9, 2004, Pages 1201-1209

A high prevalence of consanguineous and severe congenital hypothyroidism in an Iranian population

Author keywords

Consanguinity; Cretinism; Neonatal screening; Thyroid hormones; Thyrotropin; Umbilical cord

Indexed keywords

LEVOTHYROXINE; THYROTROPIN; THYROXINE;

EID: 4644247158     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2004.17.9.1201     Document Type: Article
Times cited : (50)

References (43)
  • 1
    • 0012404552 scopus 로고    scopus 로고
    • The thyroid gland
    • Brook CGD, Hindmarsh PC, eds. 4th Ed. Oxford: Blackwell Science
    • Brown RS. The thyroid gland. In: Brook CGD, Hindmarsh PC, eds. Clinical Pediatric Endocrinology, 4th Ed. Oxford: Blackwell Science, 2001; 288-320.
    • (2001) Clinical Pediatric Endocrinology , pp. 288-320
    • Brown, R.S.1
  • 2
    • 0033304825 scopus 로고    scopus 로고
    • The anecdotal history of screening for congenital hypothyroidism
    • Dussault JH. The anecdotal history of screening for congenital hypothyroidism. J Clin Endocrinol Metab 1999; 84: 4332-4334.
    • (1999) J. Clin. Endocrinol. Metab. , vol.84 , pp. 4332-4334
    • Dussault, J.H.1
  • 4
    • 0026968920 scopus 로고
    • Comparison of epidemiological data on congenital hypothyroidism in Europe with those of other parts in the world
    • Toublanc JE. Comparison of epidemiological data on congenital hypothyroidism in Europe with those of other parts in the world. Horm Res 1992; 38: 230-235.
    • (1992) Horm. Res. , vol.38 , pp. 230-235
    • Toublanc, J.E.1
  • 6
    • 0037341466 scopus 로고    scopus 로고
    • An interim report of the pilot study of screening for congenital hypothyroidism in Tehran and Damavand using cord blood spot samples
    • Ordookhani A, Mirmiran P, Hedayati M, Hajipour R, Azizi F. An interim report of the pilot study of screening for congenital hypothyroidism in Tehran and Damavand using cord blood spot samples. Eur J Pediatr 2003; 162: 202-203.
    • (2003) Eur. J. Pediatr. , vol.162 , pp. 202-203
    • Ordookhani, A.1    Mirmiran, P.2    Hedayati, M.3    Hajipour, R.4    Azizi, F.5
  • 8
    • 0027369699 scopus 로고
    • Guidelines for neonatal screening programmes for congenital hypothyroidism
    • Working group on congenital hypothyroidism of the European Society for Paediatric Endocrinology
    • Grüters A, Delange F, Giovannelli G, Klett M, Rochiccioli P, Torresani T, Grant D, Hnikova O, Maenpaa J, Rondanini GF, et al. Guidelines for neonatal screening programmes for congenital hypothyroidism. Working group on congenital hypothyroidism of the European Society for Paediatric Endocrinology. Eur J Pediatr 1993; 152: 974-975.
    • (1993) Eur. J. Pediatr. , vol.152 , pp. 974-975
    • Grüters, A.1    Delange, F.2    Giovannelli, G.3    Klett, M.4    Rochiccioli, P.5    Torresani, T.6    Grant, D.7    Hnikova, O.8    Maenpaa, J.9    Rondanini, G.F.10
  • 9
    • 0008530705 scopus 로고
    • Hypothyroidism, congenital and acquired
    • Kaplan SA, ed. Philadelphia, PA: W.B. Saunders Co
    • LaFranchi S. Hypothyroidism, congenital and acquired. In: Kaplan SA, ed. Clinical Pediatric and Adolescent Endocrinology. Philadelphia, PA: W.B. Saunders Co., 1982; 82-95.
    • (1982) Clinical Pediatric and Adolescent Endocrinology , pp. 82-95
    • LaFranchi, S.1
  • 10
    • 0030048898 scopus 로고    scopus 로고
    • Physiological variations in thyroid hormones: Physiological and pathophysiological considerations
    • Fisher DA. Physiological variations in thyroid hormones: physiological and pathophysiological considerations. Clin Chem 1996; 42: 135-139.
    • (1996) Clin. Chem. , vol.42 , pp. 135-139
    • Fisher, D.A.1
  • 11
    • 0000445360 scopus 로고    scopus 로고
    • Disorders of the thyroid in the newborn and infant
    • Sperling MA, ed. 1st Ed. Philadelphia, PA: W.B. Saunders Co
    • Fisher DA. Disorders of the thyroid in the newborn and infant. In: Sperling MA, ed. Pediatric Endocrinology, 1st Ed. Philadelphia, PA: W.B. Saunders Co., 1996; 51-70.
    • (1996) Pediatric Endocrinology , pp. 51-70
    • Fisher, D.A.1
  • 12
    • 0032811842 scopus 로고    scopus 로고
    • Congenital hypothyroidism: Etiologies, diagnosis and management
    • LaFranchi S. Congenital hypothyroidism: etiologies, diagnosis and management. Thyroid 1999; 9: 735-740.
    • (1999) Thyroid , vol.9 , pp. 735-740
    • LaFranchi, S.1
  • 13
    • 0025790989 scopus 로고
    • Clinical Review 19: Management of congenital hypothyroidism
    • Fisher DA. Clinical Review 19: Management of congenital hypothyroidism. J Clin Endocrinol Metab 1991; 72: 523-529.
    • (1991) J. Clin. Endocrinol. Metab. , vol.72 , pp. 523-529
    • Fisher, D.A.1
  • 14
    • 0033912966 scopus 로고    scopus 로고
    • Influence of timing and dose of thyroid hormone replacement on development in infants with congenital hypothyroidism
    • Bongers-Schokking JJ, Koot HM, Wiersma D, Verkerk PH, de Muinck Keizer-Schrama SM. Influence of timing and dose of thyroid hormone replacement on development in infants with congenital hypothyroidism. J Pediatr 2000; 136: 292-297.
    • (2000) J. Pediatr. , vol.136 , pp. 292-297
    • Bongers-Schokking, J.J.1    Koot, H.M.2    Wiersma, D.3    Verkerk, P.H.4    de Muinck Keizer-Schrama, S.M.5
  • 15
    • 0027205113 scopus 로고
    • Newborn screening for congenital hypothyroidism: Recommended guidelines (RE9316)
    • American Academy of Pediatrics Section on Endocrinology and Committee on Genetics, and American Thyroid Association Committee on Public Health
    • American Academy of Pediatrics Section on Endocrinology and Committee on Genetics, and American Thyroid Association Committee on Public Health. Newborn screening for congenital hypothyroidism: recommended guidelines (RE9316). Pediatrics 1993; 91: 1203-1209.
    • (1993) Pediatrics , vol.91 , pp. 1203-1209
  • 17
    • 4644299718 scopus 로고    scopus 로고
    • Congenital hypothyroidism
    • Hennemann G, Krenning EP, eds. Darmstadt: Merck KGaA
    • Fisher DA. Congenital hypothyroidism. In: Hennemann G, Krenning EP, eds. Thyroid International. Darmstadt: Merck KGaA, 2002; 1-12.
    • (2002) Thyroid International , pp. 1-12
    • Fisher, D.A.1
  • 18
    • 0025877926 scopus 로고
    • Determination of thyroid volume by ultrasound from the neonatal period to late adolescence
    • Chanoine JP, Toppet V, Lagasse R, Spehl M, Delange F. Determination of thyroid volume by ultrasound from the neonatal period to late adolescence. Eur J Pediatr 1991; 150: 395-399.
    • (1991) Eur. J. Pediatr. , vol.150 , pp. 395-399
    • Chanoine, J.P.1    Toppet, V.2    Lagasse, R.3    Spehl, M.4    Delange, F.5
  • 19
    • 0026228432 scopus 로고
    • Radionuclide imaging in primary permanent congenital hypothyroidism
    • Verelst J, Chanoine JP, Delange F. Radionuclide imaging in primary permanent congenital hypothyroidism. Clin Nucl Med 1991; 16: 652-655.
    • (1991) Clin. Nucl. Med. , vol.16 , pp. 652-655
    • Verelst, J.1    Chanoine, J.P.2    Delange, F.3
  • 21
    • 0028142353 scopus 로고
    • Relation between biochemical severity and intelligence in early treated congenital hypothyroidism: A threshold effect
    • Tillotson SL, Fuggle PW, Smith I, Ades AE, Grant DB. Relation between biochemical severity and intelligence in early treated congenital hypothyroidism: a threshold effect. Br Med J 1994; 309: 440-445.
    • (1994) Br. Med. J. , vol.309 , pp. 440-445
    • Tillotson, S.L.1    Fuggle, P.W.2    Smith, I.3    Ades, A.E.4    Grant, D.B.5
  • 22
    • 0004018971 scopus 로고
    • Methods for Measuring Iodine in Urine
    • The Netherlands: ICCIDD/UNICEF/WHO Publications
    • Dunn JT, Crutchfield HE, Gutekunst R, Dunn AD. Methods for Measuring Iodine in Urine. The Netherlands: ICCIDD/UNICEF/WHO Publications, 1993.
    • (1993)
    • Dunn, J.T.1    Crutchfield, H.E.2    Gutekunst, R.3    Dunn, A.D.4
  • 23
    • 0042019206 scopus 로고    scopus 로고
    • Thyroid disorders of infancy and childhood
    • Becker KL, ed. 3rd Ed. Philadelphia, PA: Lippincott Williams & Wilkins
    • Hung W. Thyroid disorders of infancy and childhood. In: Becker KL, ed. Principles and Practice of Endocrinology and Metabolism, 3rd Ed. Philadelphia, PA: Lippincott Williams & Wilkins, 2001; 462-471.
    • (2001) Principles and Practice of Endocrinology and Metabolism , pp. 462-471
    • Hung, W.1
  • 24
    • 0001236160 scopus 로고    scopus 로고
    • Iodine deficiency
    • Braverman LE, Utiger RD, eds. 8th Ed. Philadelphia, PA: Lippincott Williams & Wilkins
    • Delange F. Iodine deficiency. in: Braverman LE, Utiger RD, eds. Werner and Ingbar's The Thyroid. A Fundamental and Clinical Text, 8th Ed. Philadelphia, PA: Lippincott Williams & Wilkins, 2000; 295-316.
    • (2000) Werner and Ingbar's the Thyroid. A Fundamental and Clinical Text , pp. 295-316
    • Delange, F.1
  • 25
    • 0036033616 scopus 로고    scopus 로고
    • Long-term consequences of congenital hypothyroidism in the era of screening programmes
    • Grüters A, Jenner A, Krude H. Long-term consequences of congenital hypothyroidism in the era of screening programmes. Best Pract Res Clin Endocrinol Metab 2002; 16: 369-382.
    • (2002) Best Pract. Res. Clin. Endocrinol. Metab. , vol.16 , pp. 369-382
    • Grüters, A.1    Jenner, A.2    Krude, H.3
  • 28
    • 0036729361 scopus 로고    scopus 로고
    • The etiology of thyroid dysgenesis - Still an enigma after all these years
    • Brown RS, Demmer LA. The etiology of thyroid dysgenesis - still an enigma after all these years. J Clin Endocrinol Metab 2002; 87: 4069-4071.
    • (2002) J. Clin. Endocrinol. Metab. , vol.87 , pp. 4069-4071
    • Brown, R.S.1    Demmer, L.A.2
  • 29
    • 0034999523 scopus 로고    scopus 로고
    • Nineteen years of national screening for congenital hypothyroidism: Familial cases with thyroid dysgenesis suggest the involvement of genetic factors
    • Castanet M, Polak M, Bonaïti-Pellié C, Lyonnet S, Czernichow P, Léger J. Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors. J Clin Endocrinol Metab 2001; 86: 2009-2014.
    • (2001) J. Clin. Endocrinol. Metab. , vol.86 , pp. 2009-2014
    • Castanet, M.1    Polak, M.2    Bonaïti-Pellié, C.3    Lyonnet, S.4    Czernichow, P.5    Léger, J.6
  • 31
    • 0030994365 scopus 로고    scopus 로고
    • Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland
    • Abramowicz MJ, Duprez L, Parma J, Vassart G, Heinrichs C. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J Clin Invest 1997; 99: 3018-3024.
    • (1997) J. Clin. Invest. , vol.99 , pp. 3018-3024
    • Abramowicz, M.J.1    Duprez, L.2    Parma, J.3    Vassart, G.4    Heinrichs, C.5
  • 32
  • 33
    • 0031755047 scopus 로고    scopus 로고
    • Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: Are athyreosis and ectopic thyroid distinct entities?
    • Gagné N, Parma J, Deal C, Vassart G, van Vliet G. Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities? J Clin Endocrinol Metab 1998; 83: 1771-1775.
    • (1998) J. Clin. Endocrinol. Metab. , vol.83 , pp. 1771-1775
    • Gagné, N.1    Parma, J.2    Deal, C.3    Vassart, G.4    van Vliet, G.5
  • 35
    • 0037265467 scopus 로고    scopus 로고
    • Neonatal thyroid disorders
    • Gruters A, Biebermann H, Krude H. Neonatal thyroid disorders. Horm Res 2003; 59 (Suppl 1): 24-29.
    • (2003) Horm. Res. , vol.59 , Issue.SUPPL. 1 , pp. 24-29
    • Gruters, A.1    Biebermann, H.2    Krude, H.3
  • 36
    • 0030733511 scopus 로고    scopus 로고
    • Epidemiology of congenital hypothyroidism
    • Klett M. Epidemiology of congenital hypothyroidism. Exp Clin Endocrinol Diabetes 1997; 105 (Suppl 4): 19-23.
    • (1997) Exp. Clin. Endocrinol. Diabetes , vol.105 , Issue.SUPPL. 4 , pp. 19-23
    • Klett, M.1
  • 38
    • 0033051751 scopus 로고    scopus 로고
    • Congenital hypothyroidism, seasonality and consanguinity in the West Midlands, England
    • Hall SK, Hutchesson ACJ, Kirk JM. Congenital hypothyroidism, seasonality and consanguinity in the West Midlands, England. Acta Paediatr 1999; 88: 212-215.
    • (1999) Acta Paediatr. , vol.88 , pp. 212-215
    • Hall, S.K.1    Hutchesson, A.C.J.2    Kirk, J.M.3
  • 39
    • 0009720631 scopus 로고    scopus 로고
    • Thyroid disorders in infancy
    • Lifshitz F, ed. 3rd Ed. New York: Marcel Dekker
    • Fort PP, Brown RS. Thyroid disorders in infancy. In: Lifshitz F, ed. Pediatric Endocrinology, 3rd Ed. New York: Marcel Dekker, 1996; 369-381.
    • (1996) Pediatric Endocrinology , pp. 369-381
    • Fort, P.P.1    Brown, R.S.2
  • 40
    • 4644274025 scopus 로고
    • Cord vs. heel blood screening for neonatal hypothyroidism
    • Medeiros-Neto G, Maciel RMB, Halpern A, eds. Proceedings of a Satellite Meeting held in conjunction with 9th International Thyroid Congress; 1985 Aug 30-31; Sao Paulo, Brazil. Sao Paulo: Ache Laboratorios Farmaceuticos
    • Walfish PG. Cord vs. heel blood screening for neonatal hypothyroidism. In: Medeiros-Neto G, Maciel RMB, Halpern A, eds. Iodine Deficiency Disorders and Congenital Hypothyroidism. Proceedings of a Satellite Meeting held in conjunction with 9th International Thyroid Congress; 1985 Aug 30-31; Sao Paulo, Brazil. Sao Paulo: Ache Laboratorios Farmaceuticos, 1986; 195-202.
    • (1986) Iodine Deficiency Disorders and Congenital Hypothyroidism , pp. 195-202
    • Walfish, P.G.1
  • 41
    • 0029846929 scopus 로고    scopus 로고
    • Newborn screening fact sheets (RE9632)
    • American Academy of Pediatrics. Committee on Genetics
    • American Academy of Pediatrics. Committee on Genetics. Newborn screening fact sheets (RE9632). Pediatrics 1996; 98: 473-501.
    • (1996) Pediatrics , vol.98 , pp. 473-501
  • 42
    • 0030841929 scopus 로고    scopus 로고
    • Neonatal screening for congenital hypothyroidism: Results and perspectives
    • Delange F. Neonatal screening for congenital hypothyroidism: results and perspectives. Horm Res 1997; 48: 51-61.
    • (1997) Horm. Res. , vol.48 , pp. 51-61
    • Delange, F.1
  • 43
    • 0031684988 scopus 로고    scopus 로고
    • Congenital hypothyroidism screening in the West Bank: A test case for screening in developing regions
    • Sack J, Feldman I, Kaiserman I. Congenital hypothyroidism screening in the West Bank: a test case for screening in developing regions. Horm Res 1998; 50: 151-154.
    • (1998) Horm. Res. , vol.50 , pp. 151-154
    • Sack, J.1    Feldman, I.2    Kaiserman, I.3


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