In a bustling pediatrics clinic at a tertiary care hospital, managing two children aged 6 and 13 exhibiting all the signs of hypothyroidism, and one girl, with early puberty due to prolonged hypothyroidism (VWGS), on the same day inspired me to write this editorial.

Congenital hypothyroidism (CH) is considered the most common cause of avoidable mental impairment. (1) This condition is a notable public health issue in Pakistan, with the occurrence of this preventable yet potentially disabling and treatable condition remaining unacceptably high. Pakistan, as a developing nation with limited resources and insufficient healthcare infrastructure, faces challenges in dealing with the impact of CH. This editorial seeks to bring attention to issues related to CH in children in Pakistan, emphasizing the importance of immediate focus and united efforts.

Studies suggest that the prevalence of CH in Pakistan is estimated to be between 1 in 3,000 and 1 in 4,000 births, significantly surpassing the global average and placing a considerable burden on the healthcare system.(2) In Pakistan, high prevalence of consanguineous marriages is a common contributor to inherited genetic mutations of CH(3) .Iodine deficiency is another important cause of hypothyroidism .(4)

The absence of compulsory newborn screening programs in Pakistan means that many cases of CH remain undetected, resulting in delayed treatment and potential long-term complications. If left untreated, CH can cause severe physical and mental impairments, thus increasing the burden on insufficient health care system

 Mandatory screening for CH by the government should be implemented. Although some private laboratories offer screening services, they are often out of reach for the majority of the population due to financial constraints.(5)

 International collaboration and research initiatives must be encouraged to understand the genetic and environmental factors contributing to CH in Pakistan

Congenital hypothyroidism is a significant public health concern in Pakistan. It is imperative that the government, healthcare professionals, and public join hands to address this issue. By screening, increasing awareness, and improving access to healthcare, we can reduce the burden of CH in Pakistan and ensure a healthier future for our children. Moreover, screening programs should also be initiated in other countries where they are not adequately implemented to provide equitable, accessible and affordable health for all.

References

1.        Agrawal P, Philip R, Saran S, Gutch M, Razi MS, Agroiya P, Gupta K. Congenital hypothyroidism. Indian J Endocrinol Metab. 2015 Mar-Apr;19(2):221-7. doi: 10.4103/2230-8210.131748. PMID: 25729683; PMCID: PMC4319261.

1.        2.Mansoor, S. Trends of congenital hypothyroidism and inborn errors of metabolism in Pakistan. Orphanet J Rare Dis 15, 321 (2020). https://doi.org/10.1186/s13023-020-01602-6

2.        3.. Woeber KA. Iodine and thyroid disease. Med Clin North Am. 1991;75(1):169–178. [PubMed] [Google Scholar] [Ref list]

3.        4.Hidayat M. Factors responsible for the persistence of Hypothyroidism among Pakistani Women. Pakistan Journal of Medical Sciences. 2024 Jan;40(1Part-I):222.

4.        5.Uthayaseelan K, Kadari M, Subhan M, Saji Parel N, Krishna PV, Gupta A, Uthayaseelan K. Congenital Anomalies in Infant With Congenital Hypothyroidism: A Review of Pathogenesis, Diagnostic Options, and Management Protocols. Cureus. 2022 May 2;14(5):e24669. doi: 10.7759/cureus.24669. PMID: 35663669; PMCID: PMC9162097.