Hypothyroidism in First‑Degree Relatives of Neonates with Congenital Hypothyroidism: Is there an Association?

Maryam Heidarpour, Sepehr Omoomi, Omid Vakilbashi, Azin Taki, Silva Hovsepian

Abstract


Background: Recent studies have shown an increased incidence of congenital hypothyroidism (CH), especially in the middle‑east region. The exact etiology is unknown; however, it has been related to several factors, the most noticeable being the high prevalence of transient CH (TCH), parental consanguinity, and the history of hypothyroidism in relatives. We sought to determine the impact of hypothyroidism in the relatives of patients with the observed trend. Methods: We included all patients with primary CH detected through the Newborn Screening (NBS) Program from 2007 to 2016. We analyzed the impact of consanguinity relationship, parental and siblings’ thyroid function, second‑degree relatives’ thyroid function, parental educational level, age, and maternal gestational diabetes on the development of permanent CH (PCH) and TCH. Results: A total of 1447 consecutive eligible patients were recruited during the study period. Of this number, 1171 (81%) were diagnosed with CH: 623 (53.2%) had PCH and 548 (46.8%) had TCH. Six hundred thirty‑three (54.1%) participants were men, and 814 (69.5%) had a history of relatives’ hypothyroidism. Our data analysis revealed a significant difference regarding the male gender, having a history of relatives’ hypothyroidism, and parental hypothyroidism compared to TCH ones (P < 0.05). Patients with a history of relatives’ hypothyroidism had significantly higher PCH than TCH (P < 0.0001). However, consanguineous marriage was not comparable in patients regardless of their history of relatives’ hypothyroidism (P‑value >0.884). Conclusions: Our findings indicated the role of the history of hypothyroidism in neonates’ relatives in the evolution of the PCH. Meanwhile, consanguineous marriage did not impress the development of PCH and TCH.

Keywords


Congenital hypothyroidism; first‑degree relatives; transient

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References


Ford G, LaFranchi SH. Screening for congenital hypothyroidism:

A worldwide view of strategies. Best Pract Res Clin Endocrinol

Metab 2014;28:175‑87.

Chiesa A, Prieto L, Mendez V, Papendieck P, Calcagno Mde L,

Gruñeiro‑Papendieck L. Prevalence and etiology of congenital

hypothyroidism detected through an argentine neonatal screening

program (1997‑2010). Horm Res Paediatr 2013;80:185‑92.

Castanet M, Polak M, Bonaïti‑Pellié C, Lyonnet S, Czernichow P,

Léger J, 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

;86:2009‑14.

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.

Hashemipour M, Ghasemi M, Hovsepian S, Heiydari K,

Sajadi A, Hadian R, et al. Etiology of congenital hypothyroidism

in Isfahan: Does it different?. Adv Biomed Res 2014;3:21.

De Felice M, Di Lauro R. Thyroid development and its

disorders: Genetics and molecular mechanisms. Endocr Rev

;25:722‑46.

Parks JS, Lin M, Grosse SD, Hinton CF, Drummond‑Borg M,

Borgfeld L, et al. The impact of transient hypothyroidism on

the increasing rate of congenital hypothyroidism in the United

States. Pediatrics 2010;125(Suppl 2):S54‑63.

Hashemipour M, Abari SS, Mostofizadeh N,

Haghjooy‑Javanmard S, Esmail N, Hovsepian S, et al. The

role of maternal thyroid stimulating hormone receptor blocking

antibodies in the etiology of congenital hypothyroidism in

Isfahan, Iran. Int J Prev Med 2012;3:128‑33.

Karimi A, Hashemipour M, Asadollahi K, Daliri S. Investigating

the incidence rate and geographical distribution of congenital

hypothyroidism among neonates in Isfahan province using

geographic information system (GIS) between 2002 and 2015.

J Pediatr Endocrinol Metab 2020;33:35‑45.

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.

Hashemipour M, Kelishadi R, Amin MM, Poursafa P,

Rashidi M, Mehrnejat N, et al. The association between

familial and environmental factors and prevalence of congenital

hypothyroidism in center of Iran. Environ Sci Pollut Res Int

;28:8434‑41.

Lazarus JH, Hughes IA. Congenital abnormalities and congenital

hypothyroidism. Lancet 1988;2:52.

Stoll C, Dott B, Alembik Y, Koehl C. Congenital anomalies

associated with congenital hypothyroidism. Ann Genet

;42:17‑20.

Léger J, Marinovic D, Garel C, Bonaïti‑Pellié C, Polak M,

Czernichow P. Thyroid developmental anomalies in first degree

relatives of children with congenital hypothyroidism. J Clin

Endocrinol Metab 2002;87:575‑80.

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.

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.

Yarahmadi S. National screeining program for congenital

hypothyroidism, physician guideline. Tehran: Javan 2012.

van Trotsenburg P, Stoupa A, Léger J, Rohrer T, Peters C,

Fugazzola L, et al. Congenital hypothyroidism: A 2020‑2021

consensus guidelines update‑an endo‑european reference

network initiative endorsed by the european society for pediatric

endocrinology and the european society for endocrinology.

Thyroid 2021;31:387‑419.

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

;62:79‑83.

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.

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.

Deladoëy J, Bélanger N, Van Vliet G. Random variability

in congenital hypothyroidism from thyroid dysgenesis

over 16 years in Québec. J Clin Endocrinol Metab

;92:3158‑61.

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.

Jones JH, Mackenzie J, Croft GA, Beaton S, Young D,

Donaldson MD. Improvement in screening performance and

diagnosis of congenital hypothyroidism in Scotland 1979‑2003.

Arch Dis Child 2006;91:680‑5.

Kurinczuk JJ, Bower C, Lewis B, Byrne G. Congenital

hypothyroidism in Western Australia 1981‑1998. J Paediatr Child

Health 2002;38:187‑91.

McMahon R, DeMartino L, Sowizral M, Powers D, Tracy M,

Caggana M, et al. The impact of seasonal changes on thyroxine

and thyroid‑stimulating hormone in newborns. Int J Neonatal

Screen 2021;7:8.

Hashemipour M, Amini M, Kelishadi R, Hovsepian S,

Haghighi S, Hosseini M, et al. Seasonal variation in the

incidence of congenital hypothyroidism in Isfahan, Iran. Saudi

Med J 2007;28:1582‑6.

Leng J, Shao P, Zhang S, Li N, Pan L, Liu H, et al. Maternal

education and newborn thyroid‑stimulating hormone level in a

congenital hypothyroidism screening program. J Matern Fetal

Neonatal Med 2020;33:2730‑4.

Dorreh F, Chaijan PY, Javaheri J, Zeinalzadeh AH. Epidemiology

of congenital hypothyroidism in Markazi Province, Iran. J Clin

Res Pediatr Endocrinol 2014;6:105‑10.

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

;16:11‑6.