Abstract
To evaluate the thyroid screening program and to estimate the prevalence of congenital hypothyroidism (CH) among newborns in the Republic of Macedonia, we measured thyroid-stimulating hormone (TSH) levels in dried blood spot specimens using the DELFIA fluoroimmunoassay, over a period of 12 years. The TSH cutoff level was 10 mU/L blood. A total of 215,077 newborns were screened (94.76 %). Out of 254 recalled newborns (a recall rate of 0.15 %), 83 newborns with CH were detected, yielding a CH prevalence at screening of 1/2,591 (female to male ratio, 1.86:1). Of the CH cases, 47/107,754 (56.6 %) neonates were Macedonian, 29/70,330 (34.9 %) were Albanian, and 7/15,055 (8.4 %) were Roma. The thyroid gland was undetectable on ultrasound in 43 (51.8 %) newborns with CH, thyroid hypoplasia was confirmed in 8 (9.6 %), while 29 (34.9 %) had a normal thyroid gland. In three newborns (3.6 %), agenesis of one lobe was confirmed. Therapy with levothyroxin was initiated on average 11.7 days after birth.
Conclusion: The national thyroid newborn screening program in Macedonia has been successful and effective, providing timely diagnosis and treatment of children with congenital hypothyroidism.
Similar content being viewed by others
Abbreviations
- CH:
-
Congenital hypothyroidism
- TSH:
-
Thyroid-stimulating hormone
References
Abduljabbar MA, Afifi AM (2012) Congenital hypothyroidism. J Pediatr Endocrinol Metab 25(1–2):13–29
Bongers-Schokking JJ, Koot HM, Wiersma D, Verkerk PH, de Muinck Keizer-Schrama SM (2000) Influence of timing and dose of thyroid hormone replacement on development in infants with congenital hypothyroidism. J Pediatr 136(292–7):183
Burgard P, Rupp K, Linder M, Haege G, Rigter T, Weinreich SS, Loeber JG, Taruscio D, Vittozzi L, Cornel MC, Hoffmann GF (2012) Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2—from screening laboratory results to treatment, follow-up and quality assurance. J Inherit Metab Dis 35(4):613–625
Dubuis JM, Glorieux J, Richer F, Deal CL, Dussault JH, Van Vliet G (1996) Outcome of severe congenital hypothyroidism: closing the developmental gap with early high dose levothyroxine treatment. J ClinEndocrinol Metab 81:222–7
Foley T, Kaplowitz PB, Kaye CL, Sundararjan S, Varma SK (2006) Update of newborn screening and therapy for congenital hypothyroidism, American Academy of Pediatrics, Rose SR, Section on Endocrinology and Committee on Genetics, American Thyroid Association, Brown RS, Public Health Committee, Lawson Wilkins Pediatric Endocrine Society. Pediatrics 117:2290–2303
Foley TP, Jr (1996) Congenital hypothyroidism. In: Braverman LE, Utiger (eds). Werner’s and Ingbar’s. The Thyroid, Lipincott-Raven, Philadelphia 988–992
Hinton CF, Harris KB, Borgfeld L, Drummond-Borg M, Eaton R, Lorey F, Therrell BL, Wallace J, Pass 197 KA (2010) Trends in incidence rates of congenital hypothyroidism related to select demographic factors: data from the UnitedStates, California, Massachusetts, New York, and Texas. Pediatrics(Suppl 2): S37-47
Kaye CI, Accurso F, La Franchi S, Lane PA, Hope N, Pang S, Schaefer GB, Lloyd-Puryear MA (2006) Introduction to the newborn screening fact sheets. Pediatrics 118(3):1304–1312
Kaye CI, Accurso F, La Franchi S, Lane PA, Hope N, Pang S, Schaefer GB, Lloyd-Puryear MA (2006) Newborn screening fact sheets. Pediatrics 118(3):e934–963
Kirsten D (2000) The thyroid gland: physiology and pathophysiology. Neonatal network: NN 19(8):11-26
Klett M (1997) Epidemiology of congenital hypothyroidism. Exp Clin Endocrinol Diabetes 4:19–23
Kratzsch J, Pulzer F (2008) Thyroid gland development and defects. Best Pract Res Clin endocrinol metab 22(1):57–75
Loeber JG, Burgard P, Cornel MC, Rigter T, Weinreich SS, Rupp K, Hoffmann GF, Vittozzi L (2012) Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result. J Inherit Metab Dis 35(4):603–611
Lorey FW, Cunningham GC (1992) Birth prevalence of primary congenital hypothyroidism by sex and ethnicity. Hum Biol 64(4):531–538
Rastogi MV, LaFranchi SH (2010) Congenital hypothyroidism. Orphanet journal of rare disease 5(17):216
Rose SR, Brown RS, Foley T, Kaplowitz PB, Kaye CI, Sundararajan S, Varma SK (2006) Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics 117(6):2290–2303
Waller DK, Anderson JL, Lorey FW, Cunningham GC (2000) Risk factors for congenital hypothyroidism: an investigation of infant’s birth weight, ethnicity and gender in California 1990-1998. Teratology 62(1):36–41
Weston M. Screenwatch: neonatal screening. National Audit of the Neonatal (Guthrie) Screening Programme. Bandolier, 1995, 14-7
Acknowledgments
We would like to acknowledge significant contribution of the International Society for Neonatal Screening (Dr. Toni Torresani, Zűrich) and the International Health Fund (Dr. Thomas Foley, Pittsburgh) to the introduction of the neonatal thyroid screening in the Republic of Macedonia.
Ethics
The research was conducted in accordance with the Declaration of Helsinki ethical guidelines and approved by the institutions where it was conducted.
Conflict of interest
The authors declare no conflicts of interest.
Author information
Authors and Affiliations
Corresponding author
Additional information
Communicated by Beat Steinmann
Rights and permissions
About this article
Cite this article
Kocova, M., Anastasovska, V., Sukarova-Angelovska, E. et al. Clinical Practice: Experience with newborn screening for congenital hypothyroidism in the Republic of Macedonia—a multiethnic country. Eur J Pediatr 174, 443–448 (2015). https://doi.org/10.1007/s00431-014-2413-4
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00431-014-2413-4