Ethnicity and incidence of congenital hypothyroidism in the capital of Macedonia
-
Violeta Anastasovska
and
Mirjana Kocova
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.
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.
References
1. American Academy of Pediatrics, Rose SR, Section on Endocrinology and Committee on Genetics, American Thyroid Association, Brown RS, et al. Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics 2006;117:2290–303.10.1542/9781581108613-part05-updateSearch in Google Scholar
2. Medda E, Olivieri A, Stazi MA, Grandolfo ME, Fazzini C, et al. Risk factors for congenital hypothyroidism: results of a population case-control study (1997–2003). Eur J Endocrinol 2005;153: 765–73.10.1530/eje.1.02048Search in Google Scholar PubMed
3. Hinton CF, Harris KB, Borgfeld L, Drummond-Borg M, Eaton R, et al. Trends in incidence rates of congenital hypothyroidism related to select demographic factors: data from the United States, California, Massachusetts, New York and Texas. Pediatrics 2010;125(Suppl 2):S37–47.10.1542/peds.2009-1975DSearch in Google Scholar PubMed
4. Hulse JA, Grant DB, Clayton BE, Lilly P, Jackson D, et al. Population screening for congenital hypothyroidism. Br Med J 1980;280: 675–8.10.1136/bmj.280.6215.675Search in Google Scholar PubMed PubMed Central
5. Layde PM, Von Allmen SD, Oakley GP Jr. Congenital hypothyroidism control programs. A cost-benefit analysis. J Am Med Assoc 1979;241:2290–2.10.1001/jama.241.21.2290Search in Google Scholar
6. Delange F, Camus M, Winkler M, Dodion J, Ermans AM. Serum thyrotrophin determination on day 5 of life as screening procedure for congenital hypothyroidism. Arch Dis Child 1977;52:89–96.10.1136/adc.52.2.89Search in Google Scholar PubMed PubMed Central
7. Kocova M, Anastasovska A, Sukarova-Angelovska E, Tanaskoska M, Taseva E. Clinical practice: Experience with newborn screening for congenital hypothyroidism in the Republic of Macedonia-a multiethnic country. Eur J Pediatr 2015;174:443–8.10.1007/s00431-014-2413-4Search in Google Scholar PubMed
8. Zdraveska N, Anastasovska V, Kocova M. Frequency of thyroid status monitoring in the first year of life and predictors for more frequent monitoring in infants with congenital hypothyroidism. J Pediatr Endocrinol Metab 2016;29:795–800.10.1515/jpem-2015-0446Search in Google Scholar PubMed
9. Messina MF, Aversa T, Salzano G, Zirilli G, Sferlazzas C, et al. Early discrimination between transient and permanent congenital hypothyroidism in children with eutopic gland. Horm Res Paediatr 2015;84:159–64.10.1159/000435811Search in Google Scholar PubMed
10. Harris KB, Pass KA. Increase in congenital hypothyroidism in New York State and in the United States. Mol Genet Metab 2007;91:268–77.10.1016/j.ymgme.2007.03.012Search in Google Scholar PubMed
11. Samardžić M, Gligorović-Barhanović N, Popović N, Popović- Samardžić M. Newborn screening program for congenital hypothyroidism in Montenegro. Paediatrics Today 2013;9: 158–62.10.5457/p2005-114.70Search in Google Scholar
12. Šmon A, Grošelj U, Žerjav Tanšek M, Biček A, Oblak A, et al. Newborn screening in Slovenia. Zdrav Var 2015;54:86–90.Search in Google Scholar
13. Mitrovic K, Vukovic R, Milenkovic T, Todorovic S, Radivojcevic J, et al. Changes in the incidence and etiology of congenital hypothyroidism detected durind 30 years of a screening program in central Serbia. Eur J Pediatr 2016;175:253–9.10.1007/s00431-015-2630-5Search in Google Scholar PubMed
14. Sarnavka V. Neonatal screening. Pediatr Croat 2004;48: 197–203.Search in Google Scholar
15. Tahirović H, Toromanović A. Neonatal screening for congenital hypothyroidism in the Federation of Bosnia and Herzegovina: eight years’ experience. Eur J Pediatr 2009;168:629–31.10.1007/s00431-008-0801-3Search in Google Scholar PubMed
16. Skordis N, Toumba M, Savva SC, Erakleous E, Topouzi M, et al. High prevalence of congenital hypothyroidism in the Greek Cypriot population: results of the neonatal screening program 1990–2000. J Pediatr Endocrinol Metab 2005;18:453–61.10.1515/JPEM.2005.18.5.453Search in Google Scholar
17. Anastasovska V, Koviloska R, Kocova M. High incidence of congenital hypothyroidism in one region of the Republic of Macedonia. Balkan J Med Genet 2014;17:31–6.10.2478/bjmg-2014-0024Search in Google Scholar PubMed PubMed Central
18. LaFranchi SH, Murphey WH, Foley TP Jr, Larsen PR, Buist NR. Neonatal hypothyroidism detected by the northwest regional screening program. Pediatrics 1979;63:180–91.10.1542/peds.63.2.180Search in Google Scholar
19. Lorey FW, Cunningham GC. Birth prevalence of primary congenital hypothyroidism by sex and ethnicity. Hum Biol 1992;64:531–8.Search in Google Scholar
20. State Statistical Office, Republic of Macedonia. Census of population, households and dwellings in the Republic of Macedonia, Final data by settlements, Book XI, 2002. www.stat.gov.mk/publikacii/knigaXI.pdf.Search in Google Scholar
21. Lescisinová M, Kúseková M, Sedlák J, Murková V, Langer P, et al. Increased incidence of congenital hypothyroidism in Gypsies in east Slovakia as compared with white population. Endocrinol Exp 1989;23:137–41.Search in Google Scholar
22. Alawneh H. Incidence of congenital hypothyroidism in Jordan. Menoufia Med J 2014;27:503–6.10.4103/1110-2098.141737Search in Google Scholar
23. Ordookhani A, Mirmiran P, Moharamzadeh M, Hedayati M, Azizi F. A high prevalence of consanguineous and severe congenital hypothyroidism in an Iranian population. J Pediatr Endocrinol Metab 2004;17:1201–9.10.1515/JPEM.2004.17.9.1201Search in Google Scholar PubMed
24. Hall SK, Hutchesson AC, Kirk JM. Congenital hypothyroidism, seasonality and consanguinity in the West Midlands, England. Acta Paediatr 1999;88:212–5.10.1111/j.1651-2227.1999.tb01084.xSearch in Google Scholar
25. Parks JS, Lin M, Grosse SD, Hinton CF, Drummond-Borg M, et al. The impact of transient hypothyroidism on the increasing rate of congenital hypothyroidism in the United States. Pediatrics 2010;125:S54–63.10.1542/peds.2009-1975FSearch in Google Scholar PubMed
26. National Newborn Screening Information System. Definition for transient hypothyroidism. Available at: www2.uthscsa.edu/nnsis/ReportDefinitcions.cfm?reportyear=2008&testgroup=Y&testid=43&grouplevel=D&typegroup=1. Accessed 11 Jan 2010.Search in Google Scholar
27. LaFranchi SH. Increasing incidence of congenital hypothyroidism: some answers, more questions. J Clin Endocrinol Metab 2011;96:2395–7.10.1210/jc.2011-1850Search in Google Scholar PubMed
28. Léger J, Olivieri A, Donaldson M, Torresani T, Krude H, et al. Europen Society for Paediatric Endocrinology consensus guidelines on screening diagnosis and management of congeniral hypothyroidism. J Clin Endocrinol Metab 2014;99:363–84.10.1210/jc.2013-1891Search in Google Scholar PubMed PubMed Central
29. Rastogi MV, Lafranchi SH. Congenital hypothyroidism. Orphanet J Rare Dis 2010;5:17.10.1186/1750-1172-5-17Search in Google Scholar PubMed PubMed Central
30. Gaudino R, Garel C, Czernichow P, Leger J. Proportion of various types of thyroid disorders among newborns with congenital hypothyroidism and normally located gland: a regional cohort study. Clin Endocrinol(Oxf) 2005;62:444–8.10.1111/j.1365-2265.2005.02239.xSearch in Google Scholar PubMed
31. Corbetta C, Weber G, Cortinovis F, Calebrio D, Passoni A, 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 2009;71:739–45.10.1111/j.1365-2265.2009.03568.xSearch in Google Scholar PubMed
©2017 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Editorial
- Pediatric endocrinology is pediatrics is public health
- Original Articles
- Total body fat, abdominal fat, body fat distribution and surrogate markers for health related to adipocyte fatty acid-binding protein (FABP4) in children
- Vitamin D supplementation, the metabolic syndrome and oxidative stress in obese children
- Vitamin D status in Egyptian children with type 1 diabetes and the role of vitamin D replacement in glycemic control
- Cross-sectional analysis of universal vitamin D supplementation in former East Germany during the first year of life
- Ethnicity and incidence of congenital hypothyroidism in the capital of Macedonia
- Changes of thyroid hormonal status in patients receiving ketogenic diet due to intractable epilepsy
- Leptin and adiponectin levels in discordant dichorionic twins at 72 hours of age-associations with anthropometric parameters and insulin resistance
- Analysis of growth hormone receptor gene expression in tall and short stature children
- Clinical features of girls with short stature among inv (9), Turner (45, X) and control individuals
- Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
- Associations between obesity, adverse behavioral patterns and cardiovascular risk factors among adolescent inhabitants of a Greek island
- Increase of body mass index (BMI) from 1.5 to 3 years of age augments the degree of insulin resistance corresponding to BMI at 12 years of age
- Case Reports
- The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency
- Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB
- Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation
- Cushing’s syndrome in infancy due to ectopic ACTH secretion by a sacro-coccygeal teratoma
- Letters to the Editor
- Growth-hormone deficiency in mitochondrial disorders
- Response to Growth hormone deficiency in mitochondrial disorders
Articles in the same Issue
- Frontmatter
- Editorial
- Pediatric endocrinology is pediatrics is public health
- Original Articles
- Total body fat, abdominal fat, body fat distribution and surrogate markers for health related to adipocyte fatty acid-binding protein (FABP4) in children
- Vitamin D supplementation, the metabolic syndrome and oxidative stress in obese children
- Vitamin D status in Egyptian children with type 1 diabetes and the role of vitamin D replacement in glycemic control
- Cross-sectional analysis of universal vitamin D supplementation in former East Germany during the first year of life
- Ethnicity and incidence of congenital hypothyroidism in the capital of Macedonia
- Changes of thyroid hormonal status in patients receiving ketogenic diet due to intractable epilepsy
- Leptin and adiponectin levels in discordant dichorionic twins at 72 hours of age-associations with anthropometric parameters and insulin resistance
- Analysis of growth hormone receptor gene expression in tall and short stature children
- Clinical features of girls with short stature among inv (9), Turner (45, X) and control individuals
- Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
- Associations between obesity, adverse behavioral patterns and cardiovascular risk factors among adolescent inhabitants of a Greek island
- Increase of body mass index (BMI) from 1.5 to 3 years of age augments the degree of insulin resistance corresponding to BMI at 12 years of age
- Case Reports
- The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency
- Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB
- Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation
- Cushing’s syndrome in infancy due to ectopic ACTH secretion by a sacro-coccygeal teratoma
- Letters to the Editor
- Growth-hormone deficiency in mitochondrial disorders
- Response to Growth hormone deficiency in mitochondrial disorders
