Congenital thyroid deficiency in which T4 is not synthesized. T4 is essential to physical and mental development. Mental retardation and an abnormal, dwarfed stature. Etiology: error in fetal development if the thyroid gland fails to form or is nonfunctional, or may be endemic where the mother suffers from an inadequate iodine supply. A dwarf with a stocky stature and protruding abdomen.
Sexual organs do not develop. Face can be misshapen: broad, sunken nose, small eyes set far apart, puffy eyelids, short forehead, thick tongue protrudes from wide-open mouth, face is expressionless. The earlier this condition is diagnosed and treated with T4, the more optimistic is the prognosis. Hormonal therapy required.