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Primary congenital hypothyroidism: challenges in a low-income country without paediatric endocrinologist and universal newborn screening
  1. Sakviseth Bin,
  2. Kimyi Phou and
  3. Sethikar Im
  1. Neonatal Intensive Care Unit, Calmette Hospital, Phnom Penh, Cambodia
  1. Correspondence to Dr Sakviseth Bin; sakviseth_bin{at}


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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  • Contributors SB, KP and SI were involved in the patient’s care. SB initiated the idea of submitting. KP is the attending doctor in charge of congenital hypothyroidism in our hospital since 2013. SB and KP collected the data and followed up the case. SI provided supervision. SB performed literature review, drafted the manuscript, and explained and obtained consent from the parents. All the authors read the paper, and revised and approved the final manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.