The Italian screening programfor primary congenital hypothyroidism: Actions to improve screening, diagnosis, follow-up, and surveillance

Journal of Endocrinological Investigation

Volumn 36, Issue 3, 2013, Pages 195-203

  Cassio, A ^a   Corbetta, C ^b   Antonozzi, I ^c   Calaciura, F ^d   Caruso, U ^e   Cesaretti, G ^f   Gastaldi, R ^e   Medda, E ^g   Mosca, F ^h   Pasquini, E ⁱ   Salerno, M C ^j   Stoppioni, V ^k   Tonacchera, M ^f   Weber, G ^l   Olivieri, A ^g  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b V BUZZI CHILDREN S HOSPITAL   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d UNIVERSITY OF CATANIA   (Italy)

^e G GASLINI INSTITUTE   (Italy)

^f UNIVERSITY OF PISA   (Italy)

^g ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^h UNIVERSITY OF MILAN   (Italy)

ⁱ UNIVERSITY OF FLORENCE   (Italy)

^j UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^k S CROCE E CARLE HOSPITAL   (Italy)

^l VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

more..

Author keywords

Congenital hypothyroidism; Diagnosis; Follow up; Neonatal screening; Surveillance

Indexed keywords

IODINE; LEVOTHYROXINE; LIOTHYRONINE; THYROGLOBULIN ANTIBODY; THYROID ANTIBODY; THYROTROPIN; THYROXINE;

ANTIBODY BLOOD LEVEL; CHILD GROWTH; CLINICAL EVALUATION; CONGENITAL HYPOTHYROIDISM; DISEASE ASSOCIATION; DISEASE REGISTRY; DISEASE SEVERITY; DISEASE SURVEILLANCE; EARLY INTERVENTION; FOLLOW UP; HEALTH CARE QUALITY; HEALTH PROGRAM; HEALTH PROMOTION; HORMONE SUBSTITUTION; HUMAN; HYPERTHYREOTROPINEMIA; ITALY; LABORATORY TEST; LIOTHYRONINE BLOOD LEVEL; LONG TERM CARE; NERVE CELL DIFFERENTIATION; NEWBORN SCREENING; PATIENT MONITORING; PRACTICE GUIDELINE; REFERENCE VALUE; REVIEW; STANDARDIZATION; THYROID DISEASE; THYROTROPIN BLOOD LEVEL; THYROXINE BLOOD LEVEL; BLOOD; HEALTH SURVEY; METHODOLOGY; NEWBORN; ORGANIZATION AND MANAGEMENT; STANDARD; TOTAL QUALITY MANAGEMENT;

CONGENITAL HYPOTHYROIDISM; FOLLOW-UP STUDIES; HUMANS; INFANT, NEWBORN; ITALY; NEONATAL SCREENING; POPULATION SURVEILLANCE; QUALITY IMPROVEMENT; REFERENCE VALUES; THYROTROPIN;

EID: 84876250139     PISSN: 03914097     EISSN: 17208386     Source Type: Journal    
DOI: 10.3275/8849     Document Type: Review

References (53)

1. Olivieri A; The Study Group of Congenital Hypothyroidism. The Italian National Register of infants with congenital hypothyroidism: twenty years of surveillance and study of congenital hypothyroidism. It J Pediat 2009, 35: 2.
2. American Academy of Pediatrics, American Thyroid Association, Lawson Wilkins Pediatric Endocrine Society. Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics 2006, 117: 2290-303.
3. Antonozzi I, Baserga M, Berti T, et al. Proposte di linee guida per lo screening dell'ipotiroidismo congenito. Riv Ital Pediatr (IJP) 2000, 26: 731-6.
4. Demers LM Spencer CA. Laboratory support for the diagnosis and monitoring of thyroid disease - Laboratory Medicine Practice Guidelines - AACC 2002 (http://www.nacb.org ).
5. Wilson JMG, Jungner G. Principles of screening for diseases. Geneva, World Health Organization, 1968.
6. American College of Medical Genetics 2006. "Newborn Screening: Toward a Uniform Screening Panel and System". Available at site: http://www.acmg.net/resources/policies/NBS/NBS-Main-Report-00.pdf.
7. Corbetta C, Weber G, Cortinovis F, et al. A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH). Clin Endocrinol (Oxf) 2009, 71: 739-45.
8. Mengreli C, Kanada-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: 4283-90.
9. Spencer CA, LoPresti JS, Patel A, et al. Applications of a newchemiluminometric thyrotropin assay to subnormal measurement. J Clin Endocrinol Metab 1998, 66: 588-92.
10. Fisher DA. Thyroid system immaturities in very low birth weight premature infants. Semin Perinatol 2008; 32: 387-97. Review PMID: 19007675.
11. Olivieri A, Medda E, De Angelis S, et al. High risk of congenital hypothyroidism in multiple pregnancies. J Clin Endocrinol Metab 2007, 92: 3141-7.
12. Goldsmit GS, Valdes M, Herzovich V, et al. Evaluation and clinical application of changes in thyroid hormone and TSH levels in critically ill full-term newborns. J Perinat Med 2011, 39: 59-64.
13. Re RN, Kourides IA, Ridgway EC, Weintraub BD, Maloof F. The effect of glucocorticoid administration on human pituitary secretion of thyrotropin and prolactin. J Clin Endocrinol Metab 1976, 43: 338-46.
14. Filippi L, Pezzati M, Poggi C, Rossi S, Cecchi A, Santoro C. Dopamine versus dobutamine in very low birthweight infants: endocrine effects. Arch Dis Child Fetal Neonatal 2007, 92: F367-71.
15. LaFranchi SH. Approach to the diagnosis and treatment of neonatal hypothyroidism. J Clin Endocrinol Metab 2011, 96: 2959-67.
16. Woo HC, Lizarda A, Tucker R, et al. Congenital hypothyroidism with a delayed thyroid-stimulating hormone elevation in very premature infants: incidence and growth and developmental outcomes. J Pediatr 2011, 158: 538-42.
17. Clinical and Laboratory Standards Institute (CLSI). Newborn Screening for Preterm, Low Birth Weight, and Sick Newborns; Approved Guideline. CLSI Document I/LA31-A, Vol. 29 No. 24, November 2009.
18. Delange F, Burgi H, Chen ZP, Dunn JT. World status of monitoring iodine deficiency disorders control programs. Thyroid 2002, 12: 915-24.
19. Slazyk WE, Hannon WH. Quality assurance in newborn screening. In: Therrel BL Jr (Ed) Laboratory Methods for Neonatal Screening. American Public Health Association, 1993.
20. Rastogi MV, LaFranchi SH. Congenital hypothyroidism. Orphanet Journal of Rare Diseases 2010, 5: 17-25.
21. 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: 557-62.
22. Gruters A, Krude H. Update on the management of congenital hypothyroidism. Horm Res 2007, 68 (Suppl): 107-11.
23. Leshem E, Bialik V, Hochberg Z. Ultrasonographic assessment of bone maturity in newborns. Horm Res 2002, 57: 180-6.
24. Wasniewska M, De Luca F, Cassio A, et al. In congenital hypothyroidism bone maturation at birth may be a predictive factor of psychomotor development during the first year of life irrespective of other variable related to treatment. Eur J Endocrinol 2003, 149: 1-6.
25. Perry R, Hollmann A, Wood A, Donaldson M. Ultrasound of the thyroid gland in the newborn. Arch Dis Child 2002, 87: 209-11.
26. Cassio A, Cacciari E, Cicognani A, et al. Treatment for congenital hypothyroidism: thyroxine alone or thyroxine plus triiodothyronine? Pediatrics 2003, 111: 1055-60.
27. Bessho K, Etani Y, Ichimori H, et al. Increased type 3 iodothyronine deiodinase activity in a regrown hepatic emangioma with consumptive hypothyroidism. Eur J Pediatr 2010, 169: 215-21.
28. Touati G, Leger J, Toublanc JE, et al. A thyroxine dosage of 8 μg/Kg per day is appropriate for the initial treatment of the majority of infants with congenital hypothyroidism. Eur J Pediatr 1997, 156: 94-8.
29. Von Heppe JH, Krude H, L'Allemand D, Schnabel D, Gruters A. The use of L-T4 as liquid solution improves the practicability and individualized dosage in newborns and infants with congenital hypothyroidism. J Pediatr Endocrinol Metab 2002, 17: 967-74.
30. Cassio A, Monti S, Rizzello A, et al. Comparison between liquid and tablet formulations of levothyroxine in the initial treatment of congenital hypothyroidism. J Pediatr 2013, Jan 10 [E-pub ahead of print]; doi: 10.1016/j.jpeds.2012.11.070.
31. Song SI, Daneman D, Rovet J. The influence of etiology and treatment factors on intellectual outcome in congenital hypothyroidism. J Dev Behav Pediatr 2001, 22: 376-84.
32. Leonardi D, Polizzotti N, Carta A, et al. Longitudinal study of thyroid function in children with mild hyperthyrotropinemia at neonatal screening for congenital hypothyroidism. J Clin Endocrinol Metab 2008, 93: 2679-85.
33. Fisher DA, Schoen EJ, La Franchi S, et al. The hypothalamic- pituitarythyroid negative feedback control axis in children with treated congenital hypothyroidism. J Clin Endocrinol Metab 2000, 85: 2722-7.
34. Elminger MW, Kühnel W, Lambrecht HG, et al. Reference intervals from birth to adulthood for serum thyroxine (T4), triiodothyronine (T3), free T3, free T4, thyroxine binding globulin (TBG) and thyrotropin (TSH). Clin Chem Lab Med 2001, 39: 973-9.
35. Calaciura F, Motta RM, Miscio G, et al. Subclinical hypothyroidism in early childhood: a frequent outcome of transient neonatal hyperthyrotropinemia. J Clin Endocrinol Metab 2002, 87: 3209-14.
36. Tillotson SL, Fuggle PW, Smith I et al. Relation between biochemical severity and intelligence in early treated congenital hypothyroidism: a threshold effect. BMJ 1994, 309: 440-5.
37. Salerno M, Militerni R, Bravaccio C, et al. Effect of different starting doses of levothyroxine on growth and intellectual outcome at four years of age in congenital hypothyroidism. Thyroid 2002, 12: 45-52.
38. Bongers-Schokking JJ, Koot HM, Wiersma D, et al. Influence of timing and dose of thyroid hormone replacement on development in infants with congenital hypothyroidism. J Pediatr 2000, 136: 292-7.
39. Salerno M, Micillo M, Di Maio S, et al. Longitudinal growth, sexual maturation and final height in patients with congenital hypothyroidism detected by neonatal screening. Eur J Endocrinol 2001, 145: 377-83.
40. Kempers MJ, van der Sluijs Veer L, Nijhuis-van der Sanden MW, et al. Intellectual and motor development of young adults with congenital hypothyroidism diagnosed by neonatal screening. J Clin Endocrinol Metabol 2006, 91: 418-24.
41. Montanelli L, Tonacchera M. Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to Pax8 and TTF1 mutations. Mol Cell Endocrinol 2010, 322: 64-71.
42. Castanet M, Park S, Smith A, et al. A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. Hum Mol Genet 2002, 11: 2521-9.
43. Persani L, Calebiro D, Cordella D, et al. Genetics and phenomics of hypothyroidism due to TSH resistance. Mol Cell Endocrinol 2010, 322: 72-82.
44. De Marco G, Agretti P, Montanelli L, et al. Identification and functional analysis of novel dual oxidase 2 (DUOX2) mutations in children with congenital or subclinical hypothyroidism. J Clin Endocrinol Metab 2011, 96: 1335-9.
45. Oliviero U, Cittadini A, Bosso G, et al. Effects of long-term L-thyroxine treatment on endothelial function and arterial distensibility in young adults with congenital hypothyroidism. Eur J Endocrinol 2010, 162: 289-94.
46. Leger J, Ecosse E, Roussey M, Lanoe JL, Larroque B. Subtle health impairment and socioeducational attainment in young adult patients with congenital hypothyroidism diagnosed by neonatal screening: a longitudinal population-based cohort study. J Clin Endocrinol Metab 2011, 96: 1771-82.
47. Salerno M, Lettiero T, Esposito-del Puente A, et al. Effect of longterm L-thyroxine treatment on bone mineral density in young adults with congenital hypothyroidism. Eur J Endocrinol 2004, 151: 689-94.
48. Rovet JF. Children with congenital hypothyroidism and their siblings: do they really differ? Pediatrics 2005, 115: e52-7.
49. Bisacchi N, Bal MO, Nardi L, et al. Psychological and behavioural aspects in children and adolescents with congenital hypothyroidism diagnosed by neonatal screening: comparison between parents' and children's perceptions. Eur J Endocrinol 2011, 164: 269-76.
50. Brooke EM. The current and future use of registers in health information systems. World Health Organization 1974, available at site: http://whqlibdoc. who.int/offset/WHO-OFFSET-8.pdf.
51. Richesson R, Vehik K. Patient registries: utility, validity and inference. Adv Exp Med Biol 2010, 686: 87-104.
52. 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: 765-73.
53. Dentice M, Cordeddu V, Rosica A, et al. Missense mutation in the transcription factor NKX2.5: a novel molecular event in the pathogenesis of thyroid dysgenesis. J Clin Endocrinol Metab 2006, 91: 1428-33.