ESPE Yearbook of Paediatric Endocrinology

Orphanet J Rare Dis 2020 15:321. doi: 10.1186/s13023-020-01602-6

– In Pakistan, there is presently no systematic neonatal screening for congenital hypothyroidism and other inborn errors of metabolism– A review of published articles was performed to calculate a probable estimate of the disease burden in the Pakistani population

Mansoor highlights the fact that there are presently no national data on the prevalence or incidence of congenital hypothyroidism (CH) and other inborn errors of metabolism (IEM) in Pakistan. The author also emphasizes that most data come from a limited number of hospitals in the country. Focusing on CH, the most common congenital condition managed by pediatric endocrinologists, we can expect that a national neonatal screening program for would identify at least 2000 neonates with CH every year in Pakistan (assumptions: population of 216 000 000 in 2019, birth rate of 27.4 per 1000 people, incidence of CH 1/3000). As Pakistan has one of the highest consanguinity rates in the world, this number is likely to be higher. The author mentions that Pakistan has the capability of performing all required biochemical and genetic tests. There is no doubt about that. However, several issues must be carefully considered prior to initiating a national neonatal screening program for CH. First, although there has been a marked decrease in iodine deficiency in Pakistan over the last 20 years, several areas of low iodine intake are still present, which is likely to result in a high percentage of false positives for permanent CH (1). Second, home birth remains highly prevalent (ranging from 34% in the Sindh region to 74% in Baluchistan) (2), making the collection and shipping of samples to a reference laboratory a major logistics issue. Finally, ensuring timely recall of the positive neonates is also a key issue. Similar to other countries with a significant number of home births, pediatric endocrinologists will welcome TSH point of care testing when it becomes available.

References: 1. Khattak RM, Khattak MNK, Ittermann T, Völzkea H. Factors affecting sustainable iodine deficiency elimination in Pakistan: A global perspective. J Epidemiol. 2017 Jun; 27(6): 249–257. doi: 10.1016/j.je.2016.04.003.2. Iftikhar ul Husnain M, Rashid M, Shakoor U. Decision-making for birth location among women in Pakistan: evidence from national survey. BMC Pregnancy Childbirth 18, 226 (2018). doi: 10.1186/s12884-018-1844-8.