Congenital hypothyroidism presenting as myxedema coma in a teenager

Area of Science:

• Endocrinology
• Pediatrics
• Genetics

Background:

• Congenital hypothyroidism (CH) is a rare endocrine disorder.
• Newborn screening in the US aims to prevent cognitive impairment from CH.
• Myxedema coma is a severe, life-threatening complication of untreated hypothyroidism.

Observation:

• This report details a case of CH presenting unusually late.
• The patient, an immigrant teenager, developed myxedema coma.
• Clinical features included altered mental status, edema, and vital sign instability.

Findings:

• The case highlights a delayed diagnosis of CH.
• Myxedema coma occurred despite the condition being screened for in infancy.
• This presentation underscores the importance of considering CH in undiagnosed hypothyroidism.

Implications:

• Delayed diagnosis of CH can have severe consequences.
• Effective screening and follow-up protocols are essential.
• Raising awareness of CH presentation in diverse populations is critical.