Hypothyroidism in siblings due to a homozygous mutation of the TSH-β subunit gene

Journal of Pediatric Endocrinology and Metabolism

Volumn 17, Issue 4, 2004, Pages 669-672

  Felner, Eric I ^a,c   Dickson, Bryan A ^b   White, Perrin C ^b  

^a TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Central hypothyroidism; TSH subunit

Indexed keywords

GENOMIC DNA; NUCLEOTIDE; PROLACTIN; PROTIRELIN; THYROID HORMONE; THYROTROPIN; THYROTROPIN BETA SUBUNIT; THYROXINE;

ARTICLE; BELGIUM; BRAZIL; CASE REPORT; CODON; CONGENITAL HYPOTHYROIDISM; DNA DETERMINATION; FAMILIAL DISEASE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE SEQUENCE; GERMANY; HOMOZYGOSITY; HORMONAL REGULATION; HORMONE DEFICIENCY; HORMONE SUBSTITUTION; HUMAN; IRELAND; NUCLEOTIDE SEQUENCE; PLESIOMORPHY; PROLACTIN BLOOD LEVEL; SEQUENCE ANALYSIS; SIBLING; THYROTROPIN BLOOD LEVEL; THYROXINE BLOOD LEVEL; UNITED KINGDOM; UNITED STATES;

EID: 3142680443     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2004.17.4.669     Document Type: Article

References (12)

1. Hanna CE, Drainz PL, Skeels MR, Miyahir RS, Sesser DE, LaFranchi SH. Detection of congenital hypopituitary hypothyroidism: ten year experience in the northwest regional screening program. J Pediatr 1986; 109: 959-964.
2. Wondisford FE, Radovick S, Moates JM, Usala SJ, Weintraub BD. Isolation and characterization of the human thyrotropin β-subunit gene. J Biol Chern 1988; 263: 12538-12542.
3. Hayashizaki Y, Hiraoka Y, Endo Y, Matsubara K. Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the B-subunit. EMBO J 1989; 8: 2291-2296.
4. Dacou-Voutetakis C, Feltquate DM, Drakopoulou M, Kourides IA, Dracopoli NC. Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene. Am J Hum Genet 1990; 46: 988-993.
5. Sertedaki A, Papadimitriou A, Voutetakis A, Dracopoulou M, Dacou-Voutetakis C. Congenital hypothyroidism (CH) caused by a new genetic defect of the thyrotropin (TSH) beta subunit gene associated with different hormonal derangement in the same sibship. Horm Res 2000; 53 (Suppl 2): 11 (Abst).
6. Bonomi M, Proverbio MC, Weber G, Chiumello G, Beck-Peccoz P, Persani L. Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as a hallmark of central hypothyroidism due to mutations of the TSH-beta gene. J Clin Endocrinol Metab 2001; 86: 1600-1604.
7. Medeiros-Neto G, Herodotou DT, Rajan S, Kommareddi S, de Lacerda L, Sandrini R, Boguszewski MC, Hollenberg AN, Radovick S, Wondisford FE. A circulating, biologically inactive thyrotropin caused by a mutation in the beta subunit gene. J Clin Invest 1996; 97: 1250-1256.
8. Doeker BM, Pfäffle RW, Pohlenz J, Andler W. Congenital central hypothyroidism due to homozygous mutation in the thyrotropin β-subunit gene follows an autosomal inheritance. J Clin Endocrinol Metab 1998; 83: 1762-1765.
9. Biebermann H, Liesenkotter KL, Emeis M, Obladen M, Grüters A. Severe congenital hypothyroidism due to a homozygous mutation of the βTSH gene. Pediatr Res 1999; 46: 170-173.
10. Heinrichs C, Parma J, Scherberg NH, Delange F, Van Vliet G, Duprez L, Bourdoux P, Bergmann P, Vassart G, Refetoff S. Congenital central isolated hypothyroidism caused by a homozygous mutation in the TSH-beta subunit gene. Thyroid 2000; 10: 387-391.
11. Pohlenz J, Dumitrescu A, Aumann U, Koch G, Melchior R, Prawitt D, Refetoff S. Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHβ-subunit gene. J Clin Endocrinol Metab 2002; 87: 336-339.
12. Pierce JG, Parsons TF. Glycoprotein hormones: structure and function. Annu Rev Biochem 1981; 50: 465-495.