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January 1970

Congenital Familial Hypoparathyroidism: Management of an Infant, Genetics, Pathogenesis of Hypoparathyroidism, and Fetal Undermineralization

Author Affiliations

From the Department of Pediatrics, School of Medicine, State University of New York at Buffalo, Buffalo.

Am J Dis Child. 1970;119(1):74-78. doi:10.1001/archpedi.1970.02100050076018

A mother with poorly controlled congenital hypoparathyroidism and her infant with intra-uterine hyperparathyroidism were described in a previous publication.1 In that paper, the pathophysiology of the undermineralized bones of the infant was discussed. We have had the unusual opportunity to study a second child of this hypoparathyroid mother; this infant has congenital hypoparathyroidism. Since there are few data on the dose of vitamin D or parathyroid hormone in infants with congenital hypoparathyroidism, we are reporting our management of this newborn and particular success on treating her with weekly doses of ergocalciferol (vitamin D2) orally. As both infants were in a similar intrauterine environment, we have more information pertaining to the pathophysiology of the skeletal lesions seen in the first baby at birth.

Report of a Case  The patient was born to a gravida 2, para 1, 25-year-old mother untreated for congenital hypoparathyroidism, paranoid schizophrenia, epilepsy, and chronic pyelonephritis.