PHENYLTHIOCARBAMIDE NON-TASTING AMONG CONGENITAL ATHYROTIC CRETINS: FURTHER STUDIES IN AN ATTEMPT TO EXPLAIN THE INCREASED INCIDENCE*

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Abstract
Eighteen out of 27 children born without a thyroid gland were found to be non-tasters for phenylthiocarbamide (P T C). The incidence of this mendelian recessive was also increased among the families of these cretins. The low percentage of non-tasters in the colored race may be related to the rarity of cretinism in this race. The birth weight, sex, and birth date were not correlated with the tasting status of the patient, although mental retardation could be more common in the non-tasting cretin. In adult volunteers non-tasting for P T C was closely correlated with non-tasting for d, 1 goitrin which is a naturally occurring anti-thyroid thionamide. No evidence for increased ingestion of goitrin during pregnancy by the mothers of the cretins was obtained. An hypothesis was formed that the P T C non-tasting genotype causes the developing embryonic thyroid to be more susceptible to maldevelopment, possibly by the action of goitrin.