Congenital hypothyroidism due to defects of thyroid development and mild increase of TSH at screening: Data from the Italian National Registry of infants with congenital hypothyroidism

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 4, 2013, Pages 1403-1408

  Olivieri, Antonella ^a   Corbetta, Carlo ^b   Weber, Giovanna ^c   Vigone, Maria Cristina ^c   Fazzini, Cristina ^a   Medda, Emanuela ^a   Altamura, R ^d   Angeloni, U ^d   Antonozzi, I ^d   Baserga, M ^d   Bernasconi, S ^d   Bona, G ^d   Bucci, I ^d   Calaciura, F ^d   Caldarera, R ^d   Camilot, M ^d   Cappa, M ^d   Caruso, U ^d   Casini, M R ^d   Cassio, A ^d   Cavallo, L ^d   Cesaretti, G ^d   Chiarelli, F ^d   Ciannamea, B ^d   Ciatti, R ^d   Ciccio M ^d   Cordova, R ^d   Correra, A ^d   Costa, P ^d   De Luca, F ^d   De Santis, C ^d   Di Maio, S ^d   Gallicchio, G ^d   Gastaldi, R ^d   Grasso, G ^d   Gurrado, R ^d   Lelli, A ^d   Leonardi, D ^d   Loche, S ^d   Lorini, R ^d   Manente, G ^d   Monaco, F ^d   Minelli, G ^d   Narducci, P ^d   Oggiano, N ^d   Pagliardini, S ^d   Parlato, G ^d   Pasquini, E ^d   Pinchera, A ^d   Pizzolante, M ^d   Radetti, G ^d   Righetti, F ^d   Rizzo, A ^d   Saggese, G ^d   Sala, D ^d   Salerno, C ^d   Sava, L ^d   Scognamiglio, D ^d   Stoppioni, V ^d   Tonacchera, M ^d   Vigneri, R ^d   Vignola, G ^d   more..

^a ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^b V BUZZI CHILDREN S HOSPITAL   (Italy)

^c VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

LEVOTHYROXINE; THYROTROPIN; THYROXINE;

ARTICLE; CLINICAL FEATURE; CONGENITAL HYPOTHYROIDISM; DISEASE REGISTRY; DISEASE SEVERITY; DISEASE SURVEILLANCE; ECHOGRAPHY; ECTOPIC THYROID GLAND; FOLLOW UP; HORMONE SUBSTITUTION; HUMAN; MAJOR CLINICAL STUDY; NEWBORN; NEWBORN SCREENING; PERINATAL DEVELOPMENT; PRIORITY JOURNAL; THYROID DYSGENESIS; THYROID HYPERPLASIA; THYROID SCINTISCANNING; THYROTROPIN BLOOD LEVEL; THYROXINE BLOOD LEVEL; UPREGULATION;

EID: 84876214182     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-3273     Document Type: Article

References (24)

1. Rastogy MV, LaFranchi SH. Congenital hypothyroidism. Orphanet J Rare Dis. 2010;5:17.
2. Grüters A, Krude H. Detection and treatment of congenital hypothyroidism. Nat Rev Endocrinol. 2011;8:104-113.
3. Corbetta C, Weber G, Cortinovis F, et al. A 7-year experience with low blood cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH). Clin Endocrinol. 2009;71:739-745.
4. Mengreli C, Kanaka-Gantenbein C, Girginoudis P, et al. Screening for congenital hypothyroidism: the significance of threshold limit in false-negative results. J Clin Endocrinol Metab. 2010;95:4283-4290.
5. Deladoey J, Van Vliet G. Is the incidence of congenital hypothyroidism really increasing? A 20-year retrospective population-based study in Quebec. J Clin Endocrinol Metab. 2011;96:2422-2429.
6. LaFranchi SH. Increasing incidence of congenital hypothyroidism: some answers, more questions. J Clin Endocrinol Metab. 2011;96: 2395-2397.
7. Cheetham T. Congenital hypothyroidism: managing the hinterland between fact and theory. Arch Dis Child. 2011;96:205.
8. Krude H, Blankenstein O. Treating patients not numbers: thebenefit and burden of lowering cut off. Arch Dis Child. 2011;96:121-122.
9. Olivieri A, The Study Group for Congenital Hypothyroidism. The Italian National Register of infants with congenital hypothyroidism: twenty years of surveillance and study of congenital hypothyroidism. Ital J Pediatr. 2009;35:2.
10. Bijarnia S, Wikcken B, Wiley V. Newborn screening for congenital hypothyroidism in very-low-birth-weight babies: the need for a second test. J Inherit Metab Dis. 2011;34:827-833.
11. Fisher DA. Thyroid function and dysfunction in premature infants. Pediatr Endocrinol Rev. 2007;4:317-328.
12. Elminger MW, Kuhnel W, Lambrecht HG. Reference intervals from birth to adulthood for serum thyroxine (T4), triiodothyronine (T3), freeT3, freeT4, thyroxine binding globuline (TBG) and thyrotropin (TSH). Clin Chem Lab Med. 2001;39:973-979.
13. Williams FL, Simpson J, Delahunty C, et al. Developmental trends in cord and postpartum serum thyroid hormones in preterm infants. J Clin Endocrinol Metab. 2004;89:5314-5320.
14. Rose SR, Foley T, Kaplowitz PB, Kaye CI, Sundararajan S, Varma SK. Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics. 2006;117:2290-2303.
15. Gaudino R, Garelt C, Czernichow P, Leger J. Proportion of various types of thyroid disorders among newborns with congenital hypothyroidism and normally located gland: regional cohort study. Clin Endocrinol (Oxf). 2005;62:444-448.
16. Olivieri A, Stazi MA, Mastroiacovo P, et al. A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from the Italian Registry for Congenital Hypothyroidism (1991-1998). J Clin Endocrinol Metab. 2002;87:557-562.
17. El Baba KA, Azar ST. Thyroid dysfunction in pregnancy. Int J Gen Med. 2012;5:227-230.
18. Medda E, Olivieri A, Stazi MA, et al. Risk factors for congenital hypothyroidism: results of a population case-control study (1997-2003). Eur J Endocrinol. 2005;153:765-777.
19. Radetti G, Fanolla A, Pappalardo L, Gottardi E. Prematurity may be a risk factor for thyroid dysfunction in childhood. J Clin Endocrinol Metab. 2007;92:155-159.
20. Ares S, Quero J, Morrealede Escobar G. Neonatal iodine deficiency: clinical aspects. J Pediatr Endocrinol Metab. 2005;18:1257-1264.
21. Zimmermann MB, Crill CM. Iodine in enteral and parenteral nutrition. Best Pract res Clin Endocrinol Metab. 2010;24:143-158.
22. Belfort MB, Pearce EN, Braverman LE, He X, Brown RS. Loww iodine content in the diets of hospitalized preterm infants. J Clin Endocrinol Metab. 2012;97:E632-E636.
23. National Newborn Screening and Genetics Resource Center (NNSGRC). 2009 National Newborn Screening Information System 2009. Available at http://genes-r-us.uthscsa.edu.
24. LaFranchi SH. Newborn screening strategies for congenital hypothyroidism: an update. J Inherit Metab Dis. 2010;33(suppl 2):S225-S233.