Elevated free thyroxine levels detected by a neonatal screening system

Pediatric Research

Volumn 66, Issue 3, 2009, Pages 312-316

  Tajima, Toshihiro ^a   Wakako, J O ^a   Fujikura, Kaori ^b   Fukushi, Masaru ^b   Fujieda, Kenji ^c  

^a HOKKAIDO UNIVERSITY   (Japan)

^b Sapporo City Institute of Public Health   (Japan)

^c ASAHIKAWA MEDICAL COLLEGE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ANTITHYROID AGENT; THYROID HORMONE; THYROID HORMONE RECEPTOR BETA; THYROTROPIN; THYROXINE; DIAGNOSTIC AGENT;

ARTICLE; CLINICAL ARTICLE; CONGENITAL HYPOTHYROIDISM; FAMILIAL DYSALBUMINEMIC HYPERTHYROXINEMIA; FEMALE; FREE THYROXINE INDEX; GRAVES DISEASE; HUMAN; HYPERTHYROXINEMIA; MALE; NEWBORN; NEWBORN SCREENING; PREGNANCY; PRIORITY JOURNAL; ADULT; BLOOD; EVALUATION; GENETICS; INFANT; JAPAN; METHODOLOGY; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE;

ADULT; BASE SEQUENCE; CONGENITAL HYPOTHYROIDISM; DNA MUTATIONAL ANALYSIS; FEMALE; GRAVES DISEASE; HUMANS; HYPERTHYROXINEMIA; INFANT; INFANT, NEWBORN; JAPAN; MALE; MOLECULAR SEQUENCE DATA; NEONATAL SCREENING; PREGNANCY; THYROTROPIN; THYROXINE;

EID: 70350450343     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1203/PDR.0b013e3181b1bcbd     Document Type: Article

References (23)

1. Fisher DA, Dussault JH, Foley TP Jr, Klein AH, LaFranehi. S, Larsen PR, Mitchell ML, Murphey WH, Walfish PG 1979 Screening for congenital hypothyroidism: results of screening one million North American infants. J Pediatr 94:700-705
2. Fisher DA 1983 Second International Conference on Neonatal Screening: progress report. J Pediatr 102:653-654
3. Fisher DA 2002 Congenital hypothyroidism. Thyroid Int 3:3-10
4. Hunter MK, Mandel SH, Sesser DE, Miyabira RS, Rien L, Skeels MR, LaFranehi. SH 1998 Follow-up of newborns with low thyroxin and nonclevated thyroidstimulating hormone-screening concentrations: results of the 20-year experience in the northwest regional newborn screening program. J Pediatr132:70-74 (Pubitemid 28082534)
5. van Tljn DA, de Vijlder JJ, Verbeeten B Jr, Verkerk PH, Vulsma T 2005 Neonatal detection of congenital hypothyroidism, of central origin. J Clin Endocrinol Metab 90:3350-3359 (Pubitemid 41014297)
6. Fujiwara F, Fujikura K, Okuhara K, Tsubaki J, Fukushi M, Fujita K, Fujieda K, Tajima T 2008 Central congenital, hypothyroidism detected by Neonatal Screening in Sapporo, Japan (2000-2004): it's prevalence and clinical characteristics. Clin Pediatr Endocrinol 17:65-69
7. Zimmerman D 1999 Fetal and neonatal hyperthyroidism. Thyroid 9:727-733
8. LaFranehi SH, Hanna CE 2000 Graves' disease. In: Braverman L, Utiger RD (eds) Werner and Ingbar's the Thyroid. 8th ed. Lippincott Williams & Wilkins, Philadelphia, pp 989-997
9. Weetman AP 2000 Graves' disease. N Engl J Med 343:1236-1248
10. Yoshimoto M, Nakayama M, Baba T, Uehara Y, Niikawa N, Ito M, Tsuji Y 1991 A case of neonatal McCune-Albright syndrome with Cushing syndrome and hyperthyroidism. Acta Paediatr Scand 80:984-987
11. Schwab KO, Gerlich M, Broecker M, Söhlemann P, Derwahl M, Lohse MJ 1997 Constitutively active germline mutation of the thyrotropin, receptor gene as a cause of congenital hyperthyroidism. J Pediatr 131:899-904 (Pubitemid 28027617)
12. LaFranehi SH, Snyder DB, Sesser DE, Skeels MR, Singh N, Brent GA, Nelson. JC 2003 Follow up of newborns with elevated screening T4 concentrations. J Pediatr 143:296-301 (Pubitemid 37188312)
13. Fisher DA 2003 Neonatal hyperthyroid screening. J Pediatr 143:285-287
14. Wada N, Chiba H, Shimizu C, Kijima H, Kubo M, Koike T 1997 A. novel missense mutation in codon 218 of the albumin, gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred. J Clin Endocrinol Metab 82:3246-3250 (Pubitemid 27419065)
15. Adams M, Matthews C, Collingwood TN, Tone Y, Beck-Peccoz P, Chatterjee KK 1994 Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. J Clin Invest 94:506-515
16. Pohlenz J, Sadow PM, Koffler T, Schönberger W, Weiss RE, Refetoff S 2001 Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene. J Pediatr 139:887-891 (Pubitemid 34014474)
17. Pannain S, Feldman M, Eiholzer U, Weiss RE, Scherberg NH, Refetoff S 2000 Familial, dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration and affinity for thyroxine. J Clin Endocrinol Metab 85:2786-2792 (Pubitemid 32269152)
18. Vandeipump MT, Tunbridge WM 1999 The epidemiology of autoimmune thyroid disease, In: Volpe R (ed) Contemporary Endocrinology, Vol 15: Autoimmune Endocrinopathies. Human Press, Totawas, pp .141-162
19. Arevalo G 1991 Prevalence of familial dysalbuminemic hyperthyroxinemia in serum samples received for thyroid testing. Clin. Chem 37:1430-1431
20. Fisher DA 2002 Thyroid disorders. In: Rimoni DL, Connors JM, Pyeritz RE (eds) Principles and Practice of Medical Genetics. 4th ed. Churchill- Livingstone, New York, pp 2183-2202
21. Collingwood TN, Wagner R, Matthews CH, Clifton-Bligh RJ, Gurnell M, Rajanayagam O, Agostini M, Fletterick RJ, Beck-Peccoz P, Reinhardt W, Binder G, Ranke MB, Hermus A, Hesch RD, Lazarus J, Newrick P, Parfitt V, Raggatt P, de Zegher F, Chatterjee VK 1998 A role for helix 3 of the TR-beta ligand-binding domain, in coactivator recruitment identified by characterization of a third cluster of mutations in resistance to thyroid hormone. EMBO J 17:4760-4770
22. Weiss RE, Balzano S, Scherberg NH, Refetoff S 1990 Neonatal, detection of generalized resistance to thyroid hormone. JAMA 264:2245-2250 (Pubitemid 20382131)
23. Wong GW, Shek CC, Lam ST, Tsui MK, Leung SS 1995 Detection of resistance to thyroid hormone by cord blood screening. Acta Paediatr 84:335-336