+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH)



A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH)



Clinical Endocrinology 71(5): 739-745



The guidelines of the National Academy of Clinical Biochemistry advocated the use of low bloodspot TSH (b-TSH) threshold for newborn screening of congenital hypothyroidism (CH). The impact generated by the application of this indication is largely unknown. To determine the impact on CH epidemiology and classification generated by the introduction of low b-TSH cutoff. Retrospective study of 629,042 newborns screened with b-TSH cutoffs of 12 (years 1999-2002) or 10 mU/l (2003-2005). Congenital hypothyroidism incidence and classification. Results were compared with those virtually obtained with the previous cutoff (20 mU/l). Clinical re-evaluation after L-T4 withdrawal of a representative group of 140 CH children at 3-5 years. Low b-TSH cutoffs allowed the detection of 435 newborns with confirmed CH (incidence 1:1446). Forty-five percent of CH infants, including 12/141 dysgenesis, would have been missed using the 20 mU/l cutoff. In contrast to current classification, 32% CH newborns had thyroid dysgenesis and 68% had a gland in situ (GIS). Premature birth was present in 20% of cases being associated with a 3-5 fold increased risk of GIS CH. Re-evaluation at 3-5 years showed a permanent thyroid dysfunction in 78% of 59 CH toddlers with GIS. The use of low b-TSH cutoff allowed the detection of an unsuspected number of children with neonatal hypothyroidism, evolving in mild permanent thyroid dysfunction later in life. The incidence of CH in this Italian population appears to be double than previously thought with a clear-cut prevalence of functional defects over dysgenetic ones.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 051057963

Download citation: RISBibTeXText

PMID: 19486019

DOI: 10.1111/j.1365-2265.2009.03568.x


Related references

Evaluation of TSH cutoff value in blood-spot samples in neonatal screening for the diagnosis of congenital hypothyroidism in the Programa "Primeiros Passos" - IEDE/RJ. Arquivos Brasileiros de Endocrinologia e Metabologia 57(1): 57-61, 2013

Neonatal screening for congenital hypothyroidism in Riyadh: Analysis of six year's experience. Annals of Saudi Medicine 16(1): 20-23, 1996

Neonatal screening for congenital hypothyroidism by measuring TSH in dried blood samples. Two years experience in the method. Journal de Gynecologie Obstetrique et Biologie de la Reproduction 8(5): 419-421, 1979

Neonatal screening of congenital hypothyroidism with TSH measurement in dried blood spots on filter paper. A two years experience. Annales d'Endocrinologie 40(4): 447-450, 1979

Experience in neonatal screening for congenital hypothyroidism. Chinese Medical Journal 106(3): 216-219, 1993

Experience with neonatal screening for congenital hypothyroidism in Hungary. Endocrinologia Experimentalis 23(2): 143-151, 1989

Congenital hypothyroidism in Albania Experience without neonatal screening. Hormone Research (Basel) 50(Suppl. 3): 138, 1998

Preliminary report on neonatal screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency: a Chandigarh experience. Indian Journal of Pediatrics 77(9): 969-973, 2011

Neonatal screening for congenital hypothyroidism: more than 30 years of experience in the Netherlands. Nederlands Tijdschrift Voor Geneeskunde 158(): A6564-A6564, 2015

Neonatal screening for congenital hypothyroidism. Experience at a Regional Center. La Pediatria Medica e Chirurgica 5(6): 457-463, 1983

Cutoff levels of 17-alpha-hydroxyprogesterone in neonatal screening for congenital adrenal hyperplasia should be based on gestational age rather than on birth weight. Journal of Clinical Endocrinology and Metabolism 90(7): 3904-3907, 2005

Neonatal screening for congenital hypothyroidism in Mexico: experience, obstacles, and strategies. Journal of Medical Screening 6(2): 77-79, 1999

Screening for congenital hypothyroidism: a three year experience. New Zealand Medical Journal 97(752): 175-177, 1984

Weight-adjusted neonatal 17OH-progesterone cutoff levels improve the efficiency of newborn screening for congenital adrenal hyperplasia. Arquivos Brasileiros de Endocrinologia e Metabologia 55(8): 632-637, 2011

Neonatal screening for congenital hypothyroidism in the Federation of Bosnia and Herzegovina: eight years' experience. European Journal of Pediatrics 168(5): 629-631, 2009