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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Cohen, Pinhas / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Roth, Christian / Toppari, Jorma

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Volume 30, Issue 4 (Apr 2017)

Issues

Ethnicity and incidence of congenital hypothyroidism in the capital of Macedonia

Violeta Anastasovska
  • Corresponding author
  • Laboratory for neonatal thyroid screening, Department of Endocrinology and Genetics, University Children’s Hospital, Vodnjanska 17, 1000 Skopje, Macedonia (the former Yugoslav Republic of)
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  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Mirjana Kocova
  • Department of Endocrinology and Genetics, University Children’s Hospital, Skopje, Macedonia (the former Yugoslav Republic of)
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2016-09-22 | DOI: https://doi.org/10.1515/jpem-2016-0178

Abstract

Background:

Congenital hypothyroidism (CH) is a common and preventable cause of intellectual disability for which early diagnosis is difficult without newborn screening. Genetic and environmental factors, race, ethnicity, sex, and pregnancy outcomes were noted as risk factors. In the study we aimed to determine the incidence of CH among different ethnic groups in the capital of Macedoina – a multiethnic city.

Methods:

A 14-year retrospective cohort analysis was performed on 121,507 newborns in the capital of Macedonia, Skopje, screened for whole-blood thyroid-stimulating hormone (TSH), in dry blood spots collected 48–72 h after birth, during the period 2002–2015. A TSH value of 15 mIU/L was used as cutoff point until 2010 and 10 mIU/L thereafter.

Results:

Primary CH was detected in 46 newborns (female to male ratio 1.3) with overall incidence of 3.8/10,000 (1/2641). The incidence of primary CH was significantly increased after lowering the TSH cutoff value (p=0.038), primarily due to detected neonates with transient CH for this period. Ethnic differences in the incidence of primary CH were detected. CH incidence among Roma neonates (6.7/10,000) was significantly higher (p<0.05) than the incidence detected in Macedonians (3.9/10,000) or Albanians (3.7/10,000).

Conclusions:

Increased incidence of CH in Roma newborns was detected as compared to other ethnicities in the capital of Macedonia. Further analysis of factors in direct interrelationship with the increased CH incidence in Roma newborns, as well as elucidation of impact of the CH incidence in this ethnicity on the overall incidence in Skopje, is warranted.

Keywords: congenital hypothyroidism; ethnicity; neonatal screening; thyroid-stimulating hormone

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About the article

Corresponding author: Violeta Anastasovska, PhD, Assistant Professor, Laboratory for neonatal thyroid screening, Department of Endocrinology and Genetics, University Children’s Hospital, Vodnjanska 17, 1000 Skopje, Republic of Macedonia, Phone: +389(0)75-500-542, Fax: +389(0)2-3129-027


Received: 2016-05-10

Accepted: 2016-07-28

Published Online: 2016-09-22

Published in Print: 2017-04-01


Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission. Violeta Anastasovska: collecting and retrospective evaluation of the data, designing, writing and editing the manuscript, searching the literature. Mirjana Kocova: diagnosis, ultrasound check-ups, treatment and following up of the patients with congenital hypothyroidism, designing and editing of the manuscript.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


Citation Information: Journal of Pediatric Endocrinology and Metabolism, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2016-0178.

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