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Primary congenital hypothyroidism: challenges in a low-income country without paediatric endocrinologist and universal newborn screening

Abstract

Due to the lack of public awareness, congenital hypothyroidism (CH) remains an overlooked challenge in Cambodia. This disease should be screened routinely at birth because, though asymptomatic, it can lead to mental retardation in the absence of early treatment. Since 2013, our unit has been the only centre that implements routine screening and provides treatment and follow-up. This case report highlights a long and tough journey of a girl who, after being diagnosed by routine newborn screening, came for follow-up at our centre. Since the screening has yet to be recognised nationally, we want to raise not only awareness of CH but also the difficulties faced by parents because their children are in need of life-long treatment in a low-resource country. Thus, the key to successful management of paediatric patients is their parental involvement, which can be influenced by their educational, cultural, geographical and financial background.

  • Preventative pediatrics
  • Thyroid disease
  • Congenital disorders
  • Neonatal health

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