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Neonatal screening for congenital hypothyroidism in Pakistan

Insights

Newborn screening for congenital hypothyroidism (CH) in Pakistan identified one case per 1000 infants. This incidence is four times higher than in Western countries, highlighting the need for early detection programs.

Area of Science:

  • Endocrinology
  • Neonatal Health
  • Public Health

Background:

  • Congenital hypothyroidism (CH) is a leading preventable cause of intellectual disability.
  • Clinical symptoms of CH often manifest after three months of age, necessitating early screening.
  • Screening programs utilizing T4 or TSH levels in newborns are established in North America and Europe.

Purpose of the Study:

  • To report the initiation and findings of the first congenital hypothyroidism screening program in Pakistan.
  • To determine the incidence of CH in Pakistani neonates.

Main Methods:

  • The Aga Khan University Hospital (AKUH) implemented a screening program in March 1987.
  • Thyroid hormone levels (T4 or TSH) were tested in newborn infants on the third day of life.
  • A total of 5000 neonates were screened by April 1988.

Main Results:

  • Five cases of congenital hypothyroidism were diagnosed within the screened population.
  • The incidence of CH was determined to be 1 in 1000 newborns.
  • This incidence rate is approximately four times higher than reported rates in Western populations.

Conclusions:

  • The screening program successfully identified cases of congenital hypothyroidism in Pakistani newborns.
  • The higher incidence of CH in Pakistan underscores the importance of continued and expanded newborn screening efforts.
  • Early diagnosis and intervention through screening can prevent mental retardation associated with CH.

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