Etiology of congenital hypothyroidism in Isfahan: Does it different?

Hashemipour, Mahin; Ghasemi, Mahmoud; Hovsepian, Silva; Heiydari, Kamal; Sajadi, Ali; Hadian, Rezvaneh; Mansourian, Marjan; Mirshahzadeh, Naghme; Kelishadi, Roya; Dalvi, Marzie

Etiology of congenital hypothyroidism in Isfahan: Does it different?

Authors

¹ Department of Pediatrics; Isfahan Endocrine and Metabolism Research Center; Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran

² Department of Pediatrics, Isfahan University of Medical Sciences, Isfahan, Iran

³ Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran

⁴ Isfahan Health Center, Isfahan University of Medical Sciences, Isfahan, Iran

⁵ Department of Biostatistics and Epidemiology, Health School, Isfahan University of Medical Sciences, Isfahan, Iran

⁶ Isfahan Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran

Abstract

Background: Considering the higher prevalence of congenital hypothyroidism (CH) in Iran and the importance of determination of the etiology of CH for assessing appropriate treatment strategies, understanding the pathogenesis of CH and the implications of its inheritance and prognosis, the aim of this study was to determine the etiology of CH 7 years after initiation of the program in Isfahan province.
Materials and Methods: In this cross-sectional study, children with a primary diagnosis of CH studied. They clinically examined and their medical files were reviewed by a Pediatric Endocrinologist. Considering screening and follow-up lab data and radiologic findings the etiology of CH was determined. Screening properties of different etiologies of CH was compared.
Results: In this study, 437 patients with permanent CH (PCH) were studied. Etiology of PCH in 316 (72.3%) and 121 (27.7%) of cases was thyroid dyshormonogenesis and thyroid dysgenesis, respectively. Prevalence of agenesis, ectopia, hypoplasia and hemiagenesis in thyroid dysgenetic patients was 13.3%, 6.4%, 4.3% and 3.7% respectively. Mean of thyroid stimulating hormone in screening, recall and after discontinuing treatment at 3 years of age was significantly lower in dyshormonogenetic CH patients than dysgenetic ones(P < 0.01).
Conclusion: Seven years of our experiences in CH screening program indicated that the etiology of CH in Isfahan, with a higher rate of CH, with a predominance of thyroid dyshormonogenesis is different from most of the studies world-wide and similar to other reports from Iran. The findings of the current study provide us baseline information for determination of CH pathogenesis in this region.

Keywords

References

1.	Rastogi MV, LaFranchi SH. Congenital hypothyroidism. Orphanet J Rare Dis 2010;5:17. [PUBMED]
2.	Büyükgebiz A. Newborn screening for congenital hypothyroidism. J Pediatr Endocrinol Metab 2006;19:1291-8.
3.	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, Foley T, et al. Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics 2006;117:2290-303.
4.	Brown RS, Demmer LA. The etiology of thyroid dysgenesis-still an enigma after all these years. J Clin Endocrinol Metab 2002;87:4069-71. [PUBMED]
5.	LaFranchi SH. Approach to the diagnosis and treatment of neonatal hypothyroidism. J Clin Endocrinol Metab 2011;96:2959-67. [PUBMED]
6.	Olney RS, Grosse SD, Vogt RF Jr. Prevalence of congenital hypothyroidism - Current trends and future directions: Workshop summary. Pediatrics 2010;125 Suppl 2:S31-6. [PUBMED]
7.	Mathai S, Cutfield WS, Gunn AJ, Webster D, Jefferies C, Robinson E, et al. A novel therapeutic paradigm to treat congenital hypothyroidism. Clin Endocrinol (Oxf) 2008;69:142-7.
8.	LaFranchi SH. Should the levothyroxine starting dose be tailored to disease severity in neonates with congenital hypothyroidism? Nat Clin Pract Endocrinol Metab 2008;4:658-9. [PUBMED]
9.	Karimzadeh Z, Amirhakimi GH. Incidence of congenital hypothyroidism in Fars province, Iran. Iran Med Sci 1992;17:78-80.
10.	Ordookhani A, Mirmiran P, Hedayati M, Hajipour R, Azizi F. Screening for congenital hypothyroidism in Tehran and Damavand: an interim report on descriptive and etiologic findings,1998-2001. Iran J Endocrinol Metab 2002;4:153-60.
11.	Hashemipour M, Amini M, Iranpour R, Sadri GH, Javaheri N, Haghighi S, et al. Prevalence of congenital hypothyroidism in Isfahan, Iran: Results of a survey on 20,000 neonates. Horm Res 2004;62:79-83.
12.	Ordookhani A, Mirmiran P, Pourafkari M, Neshandar-Asl E, Fotouhi F, Hedayati M, et al. Permanent and transient neonatal hypothyroidism in Tehran. Iran J Endocrinol Metab 2004;6:5-11.
13.	Karamizadeh Z, Dalili S, Sanei-Far H, Karamifard H, Mohammadi H, Amirhakimi G. Does congenital hypothyroidism have different etiologies in iran? Iran J Pediatr 2011;21:188-92. [PUBMED]
14.	Hashemipour M, Hovsepian S, Kelishadi R, Iranpour R, Hadian R, Haghighi S, et al. Permanent and transient congenital hypothyroidism in Isfahan-Iran. J Med Screen 2009;16:11-6.
15.	Adibi A, Haghighi M, Hosseini SR, Hashemipour M, Amini M, Hovsepian S. Thyroid abnormalities among first-degree relatives of children with congenital hypothyroidism: An ultrasound survey. Horm Res 2008;70:100-4. [PUBMED]
16.	Fisher DA. Disorders of the thyroid in the newborn and infants. In: Sperling MA, editor. Pediatric Endocrinology. 2 ^nd ed. Philadelphia: WB Saunders; 2008. p. 161-86.
17.	Brown RS. The thyroid gland. In: Brook CG, Hindmarsh PC, editors. Clinical Pediatric Endocrinology. 4 ^th ed. Ames, Lowa: Blackwell Science Ltd.; 2001. p. 288-320.
18.	al-Jurayyan NA, Shaheen FI, al-Nuaim AA, el-Desouki MI, Faiz A, al Herbish AS, et al. Congenital hypothyroidism: Increased incidence in Najran province, Saudi Arabia. J Trop Pediatr 1996;42:348-51. [PUBMED]
19.	Eugster EA, LeMay D, Zerin JM, Pescovitz OH. Definitive diagnosis in children with congenital hypothyroidism. J Pediatr 2004;144:643-7. [PUBMED]
20.	Hashemipour M, Amini M, Talaie M, Kelishadi R, Hovespian S, Iranpour R, et al. Parental consanguinity among parents of neonates with congenital hypothyroidism in Isfahan. East Mediterr Health J 2007;13:567-74. [PUBMED]
21.	Park SM, Chatterjee VK. Genetics of congenital hypothyroidism. J Med Genet 2005;42:379-89. [PUBMED]
22.	Silva LO, Dias VM, Silva IN, Chagas AJ. Congenital transient hypothyroidism: Characteristics of children identified at Newborn Screening Program of the State of Minas Gerais, Brazil. Arq Bras Endocrinol Metabol 2005;49:521-8.
23.	Hashemipour M, Hasani N, Amini M, Heidari K, Sajadi A, Dastanpour M, et al. Thyroid function abnormalities among first-degree relatives of Iranian congenital hypothyroidism neonates. Pediatr Int 2010;52:467-71.
24.	Hanukoglu A, Perlman K, Shamis I, Brnjac L, Rovet J, Daneman D. Relationship of etiology to treatment in congenital hypothyroidism. J Clin Endocrinol Metab 2001;86:186-91.
25.	Medda E, Olivieri A, Stazi MA, Grandolfo ME, Fazzini C, Baserga M, et al. Risk factors for congenital hypothyroidism: Results of a population case-control study (1997-2003). Eur J Endocrinol 2005;153:765-73.
26.	Oakley GA, Muir T, Ray M, Girdwood RW, Kennedy R, Donaldson MD. Increased incidence of congenital malformations in children with transient thyroid-stimulating hormone elevation on neonatal screening. J Pediatr 1998;132:726-30. [PUBMED]
27.	Hinton CF, Harris KB, Borgfeld L, Drummond-Borg M, Eaton R, Lorey F, 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.

Advanced Biomedical Research