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Clinical Practice: Experience with newborn screening for congenital hypothyroidism in the Republic of Macedonia—a multiethnic country

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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.

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Abbreviations

CH:

Congenital hypothyroidism

TSH:

Thyroid-stimulating hormone

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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.

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Authors and Affiliations

  1. Department of Endocrinology and Genetics, University Clinic for Children’s Diseases, Vodnjanska 17, Skopje, Macedonia

    Mirjana Kocova & Elena Sukarova-Angelovska

  2. Laboratory for Neonatal Thyroid Screening, University Clinic for Children’s Diseases, Skopje, Macedonia

    Violeta Anastasovska

  3. Genetic Laboratory, University Clinic for Children’s Diseases, Skopje, Macedonia

    Milica Tanaskoska & Elizabeta Taseva

Authors
  1. Mirjana Kocova
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  2. Violeta Anastasovska
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  3. Elena Sukarova-Angelovska
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  4. Milica Tanaskoska
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  5. Elizabeta Taseva
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Corresponding author

Correspondence to Mirjana Kocova.

Additional information

Communicated by Beat Steinmann

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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

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  • DOI: https://doi.org/10.1007/s00431-014-2413-4

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