Introduction:

Congenital hypothyroidism (CH) is the leading cause of preventable intellectual disability worldwide. Early initiation of thyroid hormone treatment ensures normal neurological development.

Objectives:

To describe the etiology and clinical manifestations of CH and to correlate cognitive disability with the initiation of the treatment in a case series of children with this disease in the department of Santander, Colombia.

Materials and methods:

Descriptive study on a case series. The information was collected from clinical charts of patients with CH diagnosed between 1999 and 2013 by the Pediatric Endocrinology Service of the Hospital Universitario de Santander Empresa Social del Estado. Fifteen variables were analyzed using Microsoft Excel 2013.

Results:

Fifty-nine cases were collected, with a male/female ratio of 1.7:1. Newborn screening was performed in 49.2% of the cases. Thyroid dysgenesis was the most common etiology, while prolonged neonatal jaundice, umbilical hernia, and hypotonia were the most common features. Intellectual disability was diagnosed in 64.4% of the cases.

Conclusions:

Newborn screening is the best strategy for detecting cases and initiating early treatment. In Colombia, prolonged neonatal jaundice may signal a possible case of CH.

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