CONGENITAL ABSENCE OF THE PARATHYROID AND THYMUS GLANDS IN AN INFANT

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Abstract
A female infant with congenital absence of the parathyroid and thymus glands is reported. In addition, the patient developed renal tubular acidosis which was associated with nephrocalcinosis. The relation of this complication to the presence of hypomagnesemia and the administration of parathyroid hormone calcium and vitamin D is discussed. It is proposed that two forms of primary hypoparathyroidism are seen in the first year of life. One is a non-lethal sex-linked form. The other, to which the patient reported here belongs, has a high mortality which may be due to immunological disorders secondary to the absence of the thymus gland or multiple associated anomalies.

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