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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Mericq, Veronica / Toppari, Jorma

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Volume 29, Issue 7


Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates

Asma Deeb
  • Corresponding author
  • Pediatric Endocrinologist, Pediatric Endocrinology Department, Mafraq Hospital, Abu Dhabi, UAE, Phone: +971-50-8350568, Fax: +971-2-5012199
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  • Other articles by this author:
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/ Ihab Elkadry / Salima Attia / Hana Al Suwaidi / Laila Obaid / Nadia A. Schoenmakers
Published Online: 2016-04-09 | DOI: https://doi.org/10.1515/jpem-2015-0275


Background: Congenital hypothyroidism (CH) is caused by thyroid gland (TG) dysgenesis or inadequate thyroid hormone biosynthesis in a structurally normal gland. Different etiologies are known to be associated with various clinical, biochemical and imaging markers and a subset of cases have an underlying genetic basis. Despite the presence of neonatal screening programs in the UAE, there is a lack of data on the disease etiology in the area. We aim to study the etiology of CH in our center and examine its relationship with the clinical, biochemical, genetic and radiological features.

Methods: Patients with CH who were followed in our center between 2011 and 2014 are enrolled in the study. Data collected included gender, gestational age, history of CH in a first-degree relative, initial thyroid stimulating hormone (TSH) and thyroxine (T4) levels, imaging findings, associated disease/malformation and treatment details. Selected patients with associated systemic disease or familial CH underwent genetic testing.

Results: Sixty-five patients were enrolled. Ten patients underwent genetic study: seven patients with associated congenital disease/malformation, one with a sibling and two with cousins with CH. Forty-nine subjects had technetium99 and/or ultrasound scans. Dyshormonogenesis was diagnosed in two-thirds of the patients. Three patients of 10 tested had likely causative genetic mutations; two homozygous thyroid peroxidase (TPO) and one heterozygous thyroid stimulating hormone receptor (TSHR) missense mutations.

Conclusions: Dyshormonogenesis is the commonest etiology in CH in the studied group. It is expected that genetic mutations are more prevalent in our region due to the nature of the CH etiology and the rate of high consanguinity rate.

Keywords: congential; dysgenesis; dyshormonogenesis; genetics; hypothyroidism; thyroid


  • 1.

    Fisher DA. Second International Conference on Neonatal Thyroid Screening: progress report. J Pediatr 1983;102:653–4.Google Scholar

  • 2.

    Bikker H, Baas F, De Vijlder JJ. Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects. J Clin Endocrinol Metab 1997;82: 649–53.Google Scholar

  • 3.

    Rastogi MV, LaFranchi SH. Congenital hypothyroidism. Orphanet J Rare Dis 2010;5:17.Web of ScienceGoogle Scholar

  • 4.

    Castanet M, Polak M, Bonaiti-Pellie C, Lyonnet S, Czernichow P, et al. Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors. J Clin Endocrinol Metab 2001;86:2009–14.Google Scholar

  • 5.

    Brown RS, Demmer LA. The etiology of thyroid dysgenesis-still an enigma after all these years. J Clin Endocrinol Metab 2002;87:4069–71.Google Scholar

  • 6.

    LaFranchi S. Congenital hypothyroidism: etiologies, diagnosis and management. Thyroid 1999;9:735–40.Google Scholar

  • 7.

    Clerc J. Imaging the thyroid in children. Best Pract Res Clin Endocrinol Metab 2014;28:203–20.Google Scholar

  • 8.

    Bekhit OE, Yousef RM. Permanent and transient congenital hypothyroidism in Fayoum, Egypt: a descriptive retrospective study. PLoS One 2013;8:e68048.Web of ScienceGoogle Scholar

  • 9.

    Hoseini M, Hekmatnia A, Hashemipour M, Basiratnia R, Omidifar N, et al. Sonographic assessment of congenitally hypothyroid children in Iran. Endokrynol Pol 2010;61:665–70.Google Scholar

  • 10.

    Hashemipour M, Ghasemi M, Hovsepian S, Heiydari K, Sajadi A, et al. Etiology of congenital hypothyroidism in Isfahan: does it different? Adv Biomed Res 2014;9:3–21.Google Scholar

  • 11.

    Park SM, Chatterjee VK. Genetics of congenital hypothyroidism. J Med Genet 2005;42:379–89.Google Scholar

  • 12.

    UK10K Consortium, Walter K, Min JL, Huang J, Crooks L, et al The UK10K Project identifies rare variants in health and disease. Nature 2015;526:82–90.Google Scholar

  • 13.

    Nascimento AC, Guedes DR, Santos CS, Knobel M, Rubio IG, et al. Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect. Thyroid 2003;13:1145–51.Google Scholar

  • 14.

    Tenenbaum-Rakover Y, Grasberger H, Mamanasiri S, Ringkananont U, Montanelli L, et al. Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community. J Clin Endocrinol Metab 2009;94:1706–12.Web of ScienceGoogle Scholar

  • 15.

    Ambrugger P, Stoeva1 I, Biebermann H, Torresani T, Leitner C, et al. Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism. Eur J Endocrinol 2001;145:19–24.Google Scholar

  • 16.

    Corbetta C, Weber G, Cortinovis F, Calebiro 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.Web of ScienceGoogle Scholar

  • 17.

    Al-Hosani H, Salah M, Saade D, Osman H, Al-Zahid J. United Arab Emirates National newborn screening programme: an evaluation 1998–2000. East Mediterr Health J 2003;9:324–32.Google Scholar

  • 18.

    Olivieri A, Stazi MA, Mastroiacovo P, Fazzini C, Medda E, et al. A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from the Italian Registry for Congenital Hypothyroidism (1991–1998). J Clin Endocrinol Metab 2002;87:557–62.Google Scholar

  • 19.

    Baş VN, Ozgelen S, Cetinkaya S, Aycan Z. Diseases accompanying congenital hypothyroidism. J Pediatr Endocrinol Metab 2014;27:485–9.Google Scholar

  • 20.

    Roberts HE, Moore CA, Fernhoff PM, Brown AL, Khoury MJ. Population study of congenital hypothyroidism and associated birth, defects, Atlanta, 1979-1992. Am J Med Genet 1997;71:29–32.Google Scholar

  • 21.

    Tillotson SL, Fuggle PW, Smith I, Ades AE, Grant DB. Relation between biochemical severity and intelligence in early treated congenital hypothyroidism: a threshold effect. Br Med J 1994;309:440–5.Google Scholar

  • 22.

    Perry RJ, Maroo S, Maclennan AC, Jones JH, Donaldson MD. Combined ultrasound and isotope scanning is more informative in the diagnosis of congenital hypothyroidism than single scanning. Arch Dis Child 2006;91:972–6.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.Google Scholar

  • 24.

    Cangul H, Aycan Z, Olivera-Nappa A, Saglam H, Schoenmakers NA, et al. Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community. Clin Endocrinol 2013;79:275–81.Web of ScienceGoogle Scholar

  • 25.

    Narumi S, Muroya K, Abe Y, Yasui M, Asakura Y, et al. TSHR mutations as a cause of congenital hypothyroidism in Japan: a population based genetic aetiology study. J Clin Endocrinol Metab 2009;94;:1317–23.Google Scholar

  • 26.

    Nicoletti A, Bal M, De Marco G, Baldazzi L, Agretti P, et al. Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism. J Clin Endocrinol Metab 2009;94:4187–94.Google Scholar

  • 27.

    Chang WC, Liao CY, Chen WC, Fan YC, Chiu SJ, et al. R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children. Clin Chim Acta 2012;413:1004–7.Google Scholar

  • 28.

    Jordan N, Williams N, Gregory JW, Evans C, Owen M, et al. The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a Caucasian population. J Clin Endocrinol Metab 2003;88:1002–5.Google Scholar

  • 29.

    Léger J, Marinovic D, Garel C, Bonaiti-Pellie C, Polak M, et al. Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism. J Clin Endocrinol Metab 2002;87:575–80.Google Scholar

About the article

Received: 2015-07-12

Accepted: 2016-02-11

Published Online: 2016-04-09

Published in Print: 2016-07-01

Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

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, Volume 29, Issue 7, Pages 801–806, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2015-0275.

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