Case report reveals severe congenital hypothyroidism from missed newborn screening in a female infant, indicating critical need for improved screening protocols.
Key Points
Patient with undiagnosed congenital hypothyroidism had poor weight gain and developmental delays.
Markedly elevated TSH and undetectable free thyroxine led to treatment with levothyroxine, showing significant improvement.
Model of care included multidisciplinary collaboration, emphasizing the importance of verifying newborn screening.
Patient's outcomes improved after 4 months with normal T4 levels, highlighting the role of timely intervention.