Newborn Hearing Screening and Hypothyroidism Available to Purchase

To the Editor.

I congratulate Dr Mehl and Ms Thomson¹  for their excellent analysis of newborn hearing screening in Colorado. Their results and recommendations are duly noted. In analyzing the cases of sensorineural hearing loss, I ask whether they detected any infants who had both hearing loss and congenital hypothyroidism.

This question relates to the issue of Pendred syndrome, an autosomal dominant disease, that includes sensorineural deafness and hypothyroidism, which occur with variable penetrance. Thus, there may be infants within the same kindred with various combinations of mild-moderate sensorineural hearing loss and/or congenital hypothyroidism, associated with thyroid dyshormonogenesis. I actually follow a couple of these families in which there are some members with varying degrees of sensorineural deafness, some with congenital hypothyroidism, some with both, and some who are unaffected.

My additional recommendation, therefore, would be that if any infant is recognized on screening to have sensorineural hearing loss,...