Abstract
Congenital hypothyroidism is a common inborn endocrine disorder. Asymptomatic presentation in majority of cases mean that its diagnosis may be missed especially in settings where newborn screening is absent. We present a case of delayed diagnosis of congenital hypothyroidism and emphasize on need for high level of suspicion to aid prompt diagnosis and treatment. Our case is a 3 year, 4 months old male, who was first seen at 5 months of age on account of poor growth. He passed meconium after day four of life, developed jaundice in first week of life, and slept a lot in neonatal period. He had coarse faces, protruding tongue, widened anterior fontanelle and herniation of umbilicus. He was started on oral levothyroxine 50 microgram daily. In resources limited settings where universal newborn screening is absent, healthcare workers should have a high level of suspicion in picking up the early signs of the condition.
Highlights
Congenital hypothyroidism is the most common inborn endocrine disease.[1,2] It is defined as the deficiency of thyroid hormones at birth.[3,4] There has been an increase in the reported prevalence of congenital hypothyroidism because of the improvements in neonatal medicine and inborn screening programs, as well as the increased sensitivity of testing methods.[3,5]Deladoëy et al reported an increase from 1 in 6700 children to 1 in 3500 children in their review regarding the condition, worldwide.[5]
We present a delayed diagnosis case of congenital hypothyroidism and emphasize on the need for high levels of suspicion in order to aid prompt diagnosis and treatment
We present a brief report of a delayed congenital hypothyroidism diagnosis case and emphasize on the need for high suspicion levels to aid prompt diagnosis in the absence of a newborn screening program in resourcelimited countries such as Ghana
Summary
Congenital hypothyroidism is the most common inborn endocrine disease.[1,2] It is defined as the deficiency of thyroid hormones at birth.[3,4] There has been an increase in the reported prevalence of congenital hypothyroidism because of the improvements in neonatal medicine and inborn screening programs, as well as the increased sensitivity of testing methods.[3,5]. We present a brief report of a delayed congenital hypothyroidism diagnosis case and emphasize on the need for high suspicion levels to aid prompt diagnosis in the absence of a newborn screening program in resourcelimited countries such as Ghana. The physical examination at the initial presentation revealed a weight of 6.2 Kg (weight for age 0 SD) He had coarse faces, a protruding tongue (Figure 1), widened anterior fontanelle, and a herniation of the umbilicus. The patient did not return for the subsequent reviews despite repeated telephone calls to the family This was later explained to be due to a family adversary as a result of the loss of the patient’s father who was the main bread winner of the family. The mother reported that he started walking at 3 years of age and she admitted that the patient had significant improvements following the thyroid hormone replacement therapy. They are due for the review in another three months
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