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In Reply: The apparent discrepancy noted by Drs Christin-Maitre and Duron is due to different subsets of the infants being referred to at each point. Affected mothers had 59 pregnancies and 45 live births (14 miscarriages), as shown in Table 2. We were able to genotype only 31 of the 45 live-born infants because 2 were stillborn, there were 11 infant deaths, and 1 infant was not available for genotyping. The 25 infants born to affected mothers shown in our Figure 1 represent those for whom accurate birth weights were available. For the other 20, weights were not available, mostly because they had been delivered at home.

Financial Disclosure: Dr Refetoff is academic associate for Quest Diagnostics Inc.

Samuel Refetoff, MD
refetoff@uchicago.edu
Departments of Medicine and Pediatrics
University of Chicago
Chicago, Ill

João Anselmo, MD
Endocrinology Unit
Hospital Divino Espírito Santo
Ponta Delgada, Azores-Portugal

JAMA. 2004;292:2086.