Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds: Clinical characterization and exclusion of candidate loci

Journal of Clinical Endocrinology and Metabolism

Volumn 90, Issue 7, 2005, Pages 4025-4034

  Grasberger, Helmut ^a   Mimouni Bloch, Aviva ^b   Vantyghem, Marie Christine ^d   Van Vliet, Guy ^e   Abramowicz, Marc ^c   Metzger, Daniel L ^f   Abdullatif, Hussein ^g   Rydlewski, Catherine ^c   Macchia, Paolo E ^h   Scherberg, Neal H ^a   Van Sande, Jacqueline ^c   Mimouni, Marc ^b   Weiss, Roy E ^a   Vassart, Gilbert ^c   Refetoff, Samuel ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^c UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^d LILLE UNIVERSITY HOSPITAL   (France)

^e UNIVERSITY OF MONTREAL   (Canada)

^f BC CHILDREN S HOSPITAL   (Canada)

^g University of Alabama at Birmingham   (United States)

^h UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

THYROGLOBULIN; THYROTROPIN; TRANSCRIPTION FACTOR PAX8;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL OBSERVATION; CONTROLLED STUDY; DISEASE ASSOCIATION; FAMILY; FEMALE; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC LINKAGE; HORMONE RESISTANCE; HUMAN; MAJOR CLINICAL STUDY; MALE; NEWBORN; NEWBORN PERIOD; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; PROGENY; SEX RATIO; SYNDROME; THYROGLOBULIN BLOOD LEVEL; THYROID FOLLICLE CELL;

EID: 23044482192     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2005-0572     Document Type: Article

References (32)

1. Stanbury JB, Rocmans P, Buhler UK, Ochi Y 1968 Congenital hypothyroidism with impaired thyroid response to thyrotropin. N Engl J Med 279:1132-1136
2. Job JC, Canlorbe P, Thomassin N, Vassal J 1969 [Infantile hypothyroidism with early onset, thyroid gland in place, weak fixation of radio-iodine and defective response to thyreostimulin]. Ann Endocrinol (Paris) 30:696-701 (French)
3. Medeiros-Neto GA, Knobel M, Bronstein MD, Simonetti J, Filho FF, Mattar E 1979 Impaired cyclic-AMP response to thyrotrophin in congenital hypothyroidism with thyroglobulin deficiency. Acta Endocrinol (Copenh) 92:62-72
4. Codaccioni JL, Carayon P, Michel-Bechet M, Foucault F, Lefort G, Pierron H 1980 Congenital hypothyroidism associated with thyrotropin unresponsiveness and thyroid cell membrane alterations. J Clin Endocrinol Metab 50:932-937
5. Refetoff S 2003 Resistance to thyrotropin. J Endocrinol Invest 26:770-779
6. Sunthornthepvarakui T, Gottschalk ME, Hayashi Y, Refetoff S 1995 Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N Engl J Med 332:155-160
7. Alberti L, Proverbio MC, Costagliola S, Romoli R, Boldrighini B, Vigone MC, Weber G, Chiumello G, Beck-Peccoz P, Persani L 2002 Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism. J Clin Endocrinol Metab 87:2549-2555
8. Tonacchera M, Perri A, De Marco G, Agretti P, Banco ME, Di Cosmo C, Grasso L, Vitti P, Chiovato L, Pinchera A 2004 Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune subclinical hypothyroidism. J Clin Endocrinol Metab 89:5787-5793
9. De Felice M, Di Lauro R 2004 Thyroid development and its disorders: genetics and molecular mechanisms. Endocr Rev 25:722-746
10. Xie J, Pannain S, Pohlenz J, Weiss RE, Moltz K, Morlot M, Asteria C, Persani L, Beck-Peccoz P, Parma J, Vassart G, Refetoff S 1997 Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH. J Clin Endocrinol Metab 82:3933-3940
11. Hegele RA 2003 Monogenic forms of insulin resistance: apertures that expose the common metabolic syndrome. Trends Endocrinol Metab 14:371-377
12. Froguel P, Velho G 1999 Molecular genetics of maturity-onset diabetes of the young. Trends Endocrinol Metab 10:142-146
13. Mimouni M, Mimouni-Bloch A, Schachter J, Shohat M 1996 Familial hypothyroidism with autosomal dominant inheritance. Arch Dis Child 75:245-246
14. Robin NI, Hagen SR, Collaco F, Refetoff S, Selenkow HA 1971 Serum tests for measurement of thyroid function. Hormones 2:266-279
15. Barsano CP, Skosey C, DeGroot LJ, Refetoff S 1982 Serum thyroglobulin in the management of patients with thyroid cancer. Arch Intern Med 142:763-767
16. Pohlenz J, Maqueem A, Cua K, Weiss RE, Van Sande J, Refetoff S 1999 Improved radioimmunoassay for measurement of mouse thyrotropin in serum: strain differences in thyrotropin concentration and thyrotroph sensitivity to thyroid hormone. Thyroid 9:1265-1271
17. Schaffer AA, Gupta SK, Shriram K, Cottingham Jr RW 1994 Avoiding recomputation in linkage analysis. Hum Hered 44:225-237
18. Lathrop GM, Lalouel JM 1984 Easy calculations of LOD scores and genetic risks on small computers. Am J Hum Genet 36:460-465
19. Sobel E, Lange K 1996 Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet 58:1323-1337
20. Tunbridge WM, Evered DC, Hall R, Appleton D, Brewis M, Clark F, Evans JG, Young E, Bird T, Smith PA 1977 The spectrum of thyroid disease in a community: the Whickham survey. Clin Endocrinol (Oxf) 7:481-493
21. Hollowell JG, Staehling NW, Flanders WD, Hannon WH, Gunter EW, Spencer CA, Braverman LE 2002 Serum TSH, T(4), and thyroid antibodies in the United States population (1988 to 1994): National Health and Nutrition Examination Survey (NHANES III). J Clin Endocrinol Metab 87:489-499
22. Meier C, Staub JJ, Roth CB, Guglielmetti M, Kunz M, Miserez AR, Drewe J, Huber P, Herzog R, Muller B 2001 TSH-controlled l-thyroxine therapy reduces cholesterol levels and clinical symptoms in subclinical hypothyroidism: a double blind, placebo-controlled trial (Basel Thyroid Study). J Clin Endocrinol Metab 86:4860-4866
23. Leger J, Marinovic D, Garel C, Bonaiti-Pellie C, Polak M, Czernichow P 2002 Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism. J Clin Endocrinol Metab 87:575-580
24. Castanet M, Polak M, Bonaiti-Pellie C, Lyonnet S, Czernichow P, Leger J 2001 Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors. J Clin Endocrinol Metab 86:2009-2014
25. Calaciura F, Motta RM, Miscio G, Fichera G, Leonardi D, Carta A, Trischitta V, Tassi V, Sava L, Vigneri R 2002 Subclinical hypothyroidism in early childhood: a frequent outcome of transient neonatal hyperthyrotropinemia. J Clin Endocrinol Metab 87:3209-3214
26. Abramowicz MJ, Duprez L, Parma J, Vassart G, Heinrichs C 1997 Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J Clin Invest 99:3018-3024
27. Gagne N, Parma J, Deal C, Vassart G, Van Vliet G 1998 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 83:1771-1775
28. Biebermann H, Schoneberg T, Krude H, Schultz G, Gudermann T, Gruters A 1997 Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. J Clin Endocrinol Metab 82:3471-3480
29. Postiglione MP, Parlato R, Rodriguez-Mallon A, Rosica A, Mithbaokar P, Maresca M, Marians RC, Davies TF, Zannini MS, De Felice M, Di Lauro R 2002 Role of the thyroid-stimulating hormone receptor signaling in development and differentiation of the thyroid gland. Proc Natl Acad Sci USA 99: 15462-15467
30. Marians RC, Ng L, Blair HC, Unger P, Graves PN, Davies TF 2002 Defining thyrotropin-dependent and -independent steps of thyroid hormone synthesis by using thyrotropin receptor-null mice. Proc Natl Acad Sci USA 99:15776-15781
31. Schectman JM, Kallenberg GA, Hirsch RP, Shumacher RJ 1991 Report of an association between race and thyroid stimulating hormone level. Am J Public Health 81:505-506
32. Daliva AL, Linder B, DiMartino-Nardi J, Saenger P 2000 Three-year follow-up of borderline congenital hypothyroidism. J Pediatr 136:53-56