A family with complete resistance to thyrotropin-releasing hormone

New England Journal of Medicine

Volumn 360, Issue 7, 2009, Pages 731-734

  Bonomi, Marco ^a   Busnelli, Marta ^b   Beck Peccoz, Paolo ^c   Costanzo, Daniela ^d   Antonica, Francesco ^a   Dolci, Claudia ^b   Pilotta, Alba ^e   Buzi, Fabio ^e   Persani, Luca ^b  

^a ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^d Associazione Italiana Assistenza Spastici   (Italy)

^e Children's Hospital   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

LEVOTHYROXINE; LIOTHYRONINE; PROTIRELIN; PROTIRELIN RECEPTOR; THYROXINE;

ADULT; CHILD; CLINICAL ARTICLE; FAMILY; FEMALE; HUMAN; HYPOTHYROIDISM; INFANT; LETTER; LIOTHYRONINE BLOOD LEVEL; NEWBORN; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; THYROXINE BLOOD LEVEL; CASE REPORT; GENETICS; MALE; PEDIGREE; PHYSIOLOGY; PREGNANCY; STOP CODON;

ADULT; CHILD; CODON, NONSENSE; FEMALE; HUMANS; HYPOTHYROIDISM; MALE; PEDIGREE; PREGNANCY; RECEPTORS, THYROTROPIN-RELEASING HORMONE; THYROTROPIN-RELEASING HORMONE;

EID: 60549098628     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMc0808557     Document Type: Letter

References (5)

1. Collu R, Tang J, Castagné J, et al. A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene. J Clin Endocrinol Metab 1997;82:1561-5.
2. 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 hallmark of central hypothyroidism due to mutations of the TSH beta gene. J Clin Endocrinol Metab 2001;86:1600-4.
3. Miyai K. Congenital thyrotropin deficiency - from discovery to molecular biology, postgenome and preventive medicine. Endocr J 2007;54:191-203.
4. Beck-Peccoz P, Amr S, Menezes-Ferreira MM, Faglia G, Weintraub BD. Decreased receptor binding of biologically inactive thyrotropin in central hypothyroidism: effect of treatment with thyrotropin-releasing hormone. N Engl J Med 1985;312:1085-90.
5. Persani L, Ferretti E, Borgato S, Faglia G, Beck-Peccoz P. Circulating thyrotropin bioactivity in sporadic central hypothyroidism. J Clin Endocrinol Metab 2000;85:3631-5.