The diagnosis of severe hypothyroidism in children resulting from congenital absence or deficiency of the thyroid gland usually presents little difficulty. The neonatal history, the delay in physical and mental development and the characteristic clinical features coupled with delay in development of centers of ossification and elevation of the concentration of blood cholesterol leave little doubt as to the nature of the ailment. In the typical case, determination of the basal metabolic rate may be corroborative.
A more perplexing problem is encountered in the diagnosis of mild hypothyroidism. Many of the familiar clinical criteria on which one relies for diagnosis may be equivocal or even absent. Mental and physical development may be only slightly retarded. Determination of the basal metabolic rate may not be possible because of the age of the patient or lack of cooperation.
It has been stated that retardation in osseous development is the most consistent finding