Decrease in thyrocalcitonin-containing cells and analysis of other congenital anomalies in 11 patients with DiGeorge anomaly.

Experimental studies have demonstrated that the DiGeorge anomaly is due to cranial neural crest abnormalities. In the present study, the quantitation of thyrocalcitonin immunoreactive cells (C-cells) has been used to evaluate whether cells derived from the cranial neural crest are or are not present in normal proportions in patients with this anomaly. Thyroid sections from 11 such patients and 11 control patients were studied immunohistochemically at autopsy in order to determine the number and distribution of thyrocalcitonin-containing cells. Patients with DiGeorge anomaly showed thymic and parathyroid aplasia/hypoplasia and cardiovascular defects, such as type B interrupted aortic arch, truncus arteriosus and tetralogy of Fallot. Other associated defects were alobar holoprosencephaly and meningocele (previously unreported defects in this anomaly), arhinencephaly, renal cystic dysplasia, ureterohydronephrosis, esophageal atresia with tracheoesophageal fistula, and cleft lip and palate. The volume density of C-cells (1.187%) and the mean number of C-cells per follicle (1.42) was significantly lower in patients with DiGeorge anomaly than in control patients (3.475% and 2.367, respectively). These results indicate a decrease in cells derived from the neural crest in patients with DiGeorge anomaly, and support the hypothesis of a neural crest disturbance as the pathogenetic factor responsible for this anomaly.