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Delayed Diagnosis of Congenital hypothyroidism of Diverse Aetiology in Pakistan. An Experience from a Tertiary Care Hospital


  • Muhammad Ali
  • Taeed Ahmed Butt
  • Akmal Laeeq Chishti
  • Zulqurnain .
  • Shan Elahi



Congenital hypothyroidism CH, iodine deficiency


Background: Thyroid Disorders represent the most common endocrinopathy in childhood and a preventable cause of growth delay and mental retardation. Clinical manifestations of hypothyroidism are highly variable depending upon etiology, duration, age and severity. True incidence of congenital hypothyroidism in Pakistan is unknown due to lack of community surveys and long awaited national newborn screening program for hypothyroidism. Objective: We aimed to determine the various etiological factors involved in the development of congenital hypothyroidism (CH) in cases coming to a tertiary care center. We also aimed to study the varied clinical presentation of congenitally hypothyroid cases to appreciate early detection and prompt diagnosis. Methodology: This was a descriptive cross-sectional study conducted in the Endocrine Section of Department of Pediatrics, Mayo Hospital, King Edward Medical University (KEMU), Lahore, from July 2012 to January 2019. A predesigned proforma was used to record clinical and biochemical parameters of the Patients. The diagnosis of CH was based on clinical, radiological, and biochemical features. Results: Out of 198 cases of permanent CH, 58.6% (116/198) were female. Among study patients, 33% (66/198) were under the age of 3 years, 32.2% (64/198) aged 3-11 months and 19.7% (39/198) between 1 - 3 years of age. The common clinical features at presentation were constipation 56.6%, unusual facies 53%, learning difficulties 42.4%, mental retardation 39.4%, short stature 38% and goiter 25.8% patients. Regarding aetiology, hormonal dysgenesis (56.5%) and iodine deficiency (26.6%) were found to be the common underlying factors. The association between age at diagnosis with various variables was computed using the Pearson chi-square test. Pvalue less than 0.05 was taken as statistically significant. Conclusion: The high prevalence of iodine deficiency among Patients of CH points towards variable aetiology and importance in community health. The study also emphasizes the need to explore clinical features at different age groups, which help in establishing early diagnosis of CH in the absence of national neonatal screening programs in Pakistan.




How to Cite

Ali, M. ., Butt, T. A. ., Chishti, A. L. ., ., Z., & Elahi, S. . (2022). Delayed Diagnosis of Congenital hypothyroidism of Diverse Aetiology in Pakistan. An Experience from a Tertiary Care Hospital. Annals of King Edward Medical University, 28(Special Issue (Jul, Sep), 300-309. Issue (Jul, Sep).5183

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