THYROID ABNORMALITIES AS A FEATURE OF DIGEORGE-SYNDROME - A PATIENT REPORT AND REVIEW OF THE LITERATURE

DiGeorge syndrome or anomaly consists of a developmental field defect which is characterized by congenital absence or hypoplasia of the thym us and parathyroids, as well as facial dysmorphism and congenital hear t defects, Other congenital malformations may coexist, in particular, thyroid abnormalities. A case of congenital hypothyroidism and DiGeorg e syndrome is reviewed, Necropsy, clinical, and experimental studies a lso show that thyroid abnormalities may be a feature of DiGeorge syndr ome. Although this could be purely coincidental, our case suggests tha t thyroid gland dysgenesis may be more common than previously thought, Thus, children with the DiGeorge syndrome may be at higher risk for h ypothyroidism. Because of this potential association, patients who are considered to have this anomaly should have early newborn thyroid scr eening.