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

Congenital Familial Hypoparathyroidism: Management of an Infant, Genetics, Pathogenesis of... Abstract 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. References 1. Aceto, T., Jr., et al: Intrauterine Hyperparathyroidism: A Complication of Untreated Maternal Hypoparathyroidism , J Clin Endocr 26:487-492 ( (May) ) 1966.Crossref 2. Bruck, E., and Weintraub, D.H.: Serum Calcium and Phosphorus in Premature and Full-Term Infants , Amer J Dis Child 90:653-668 ( (Dec) ) 1955. 3. Diehl, H., and Ellingboe, J.L.: Indicator for Titration of Calcium in the Presence of Magnesium Using Disodium Dihydrogen Ethylenediamine Tetraacetate , Anal Chem 28:882-884, 1956.Crossref 4. Gomori, G.: A Modification of the Colorimetric Phosphorus Determination for Use With the Photoelectric Colorimeter , J Lab Clin Med 27:955-960, 1942. 5. Bodansky, A.: Phosphatase Studies , J Biol Chem 99:197-206, 1932. 6. Marks, A.N., and Man, E.B.: Serum Butanol-Extractable Iodine Concentrations in Prematures , Pediatrics 35:753-758, 1965. 7. Kramer, B., and Tisdall, F.F.: A Simple Technique for the Determination of Calcium and Magnesium in Small Amounts of Serum , J Biol Chem 47:475-481, 1921. 8. "Paroidin," Parathyroid Extract , U. S. P., Parke, Davis and Company, (April) 1964. 9. Cooke, R.E., The Biologic Basis of Pediatric Practice , New York: McGraw-Hill Book Co., Inc., 1968. 10. Buchs, S., and Goppelsroeder, T.: Über die Phosphatausscheidung Nach Parathormon in den Verschiedenen Lebensaltern , Moderne Problems der Pädiatrie 1:812-816, 1954. 11. Harrison, H.E.: Idiopathic Hypoparathyroidism , Pediatrics 17:442-448 ( (March) ) 1956. 12. Fanconi, A., and Prader, A.: Transient Congenital Idiopathic Hypoparathyroidism , Helv Paediat Acta 22:342-359, 1967. 13. Connelly, J.P.; Crawford, J.D.; and Watson, J.: Studies of Neonatal Hyperphosphatemia , Pediatrics 30:425-432 ( (Sept) ) 1962. 14. Kunstadter, R.H., et al: Idiopathic Hypoparathyroidism in the Newborn , Amer J Dis Child 105: 499-506 ( (May) ) 1963.Crossref 15. Smith, F.G., Jr., and Sike, K.: Idiopathic Hypoparathyroidism in Neonatal Period , Amer J Dis Child 105:182-187 ( (Feb) ) 1963.Crossref 16. Melick, R.A., et al: Antibodies and Clinical Resistance to Parathyroid Hormone , New Eng J Med 276:144-147 ( (Jan 19) ) 1967.Crossref 17. Morgan, H.G., et al: Studies on the Mode of Transport of Vitamin D in Human Serum , Trans Assoc Amer Physicians 71:93-99, 1958. 18. Warkany, J., and Mabon, H.E.: Estimation of Vitamin D in Blood Serum: II. Level of Vitamin D in Human Blood Serums , Amer J Dis Child 60: 606-614 ( (Sept) ) 1940.Crossref 19. Rhyne, J.L., and Carriker, F.R.: Idiopathic Hypoparathyroidism and Bilateral Congenital Glaucoma in the Neonatal Period , Pediatrics 18:448-454 ( (Sept) ) 1956. 20. Wilkins, L.: The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence , Springfield, Ill: Charles C Thomas, Publisher, 1965. 21. Gellis, S.S., and Kagan, B.M.: Current Pediatric Therapy 1966-1967 , Philadelphia: W. B. Saunders Co., 1966. 22. Harrison, H.E.; Lifshitz, F.; and Blizzard, R.M.: Comparison Between Crystalline Dihydrotachysterol and Calciferol in Patients Requiring Pharmacologic Vitamin D Therapy , New Eng J Med 276:894-900 ( (April 20) ) 1967.Crossref 23. Bronsky, D., et al: Intrauterine Hyperparathyroidism Secondary to Maternal Hypoparathyroidism , Pediatrics 42:606-613, 1968. 24. Peden, V.H.: True Idiopathic Hypoparathyroidism as a Sex-Linked Recessive Trait , Amer J Hum Genet 12:323-337, 1960. 25. Bruck, E.: Etiology, Manifestations, and Management of Disorders of Calcium Metabolism in Children , Quart Rev Pediat 16:102-114 ( (April-June) ) 1961. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

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

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References (27)

Publisher
American Medical Association
Copyright
Copyright © 1970 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1970.02100050076018
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Abstract

Abstract 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. References 1. Aceto, T., Jr., et al: Intrauterine Hyperparathyroidism: A Complication of Untreated Maternal Hypoparathyroidism , J Clin Endocr 26:487-492 ( (May) ) 1966.Crossref 2. Bruck, E., and Weintraub, D.H.: Serum Calcium and Phosphorus in Premature and Full-Term Infants , Amer J Dis Child 90:653-668 ( (Dec) ) 1955. 3. Diehl, H., and Ellingboe, J.L.: Indicator for Titration of Calcium in the Presence of Magnesium Using Disodium Dihydrogen Ethylenediamine Tetraacetate , Anal Chem 28:882-884, 1956.Crossref 4. Gomori, G.: A Modification of the Colorimetric Phosphorus Determination for Use With the Photoelectric Colorimeter , J Lab Clin Med 27:955-960, 1942. 5. Bodansky, A.: Phosphatase Studies , J Biol Chem 99:197-206, 1932. 6. Marks, A.N., and Man, E.B.: Serum Butanol-Extractable Iodine Concentrations in Prematures , Pediatrics 35:753-758, 1965. 7. Kramer, B., and Tisdall, F.F.: A Simple Technique for the Determination of Calcium and Magnesium in Small Amounts of Serum , J Biol Chem 47:475-481, 1921. 8. "Paroidin," Parathyroid Extract , U. S. P., Parke, Davis and Company, (April) 1964. 9. Cooke, R.E., The Biologic Basis of Pediatric Practice , New York: McGraw-Hill Book Co., Inc., 1968. 10. Buchs, S., and Goppelsroeder, T.: Über die Phosphatausscheidung Nach Parathormon in den Verschiedenen Lebensaltern , Moderne Problems der Pädiatrie 1:812-816, 1954. 11. Harrison, H.E.: Idiopathic Hypoparathyroidism , Pediatrics 17:442-448 ( (March) ) 1956. 12. Fanconi, A., and Prader, A.: Transient Congenital Idiopathic Hypoparathyroidism , Helv Paediat Acta 22:342-359, 1967. 13. Connelly, J.P.; Crawford, J.D.; and Watson, J.: Studies of Neonatal Hyperphosphatemia , Pediatrics 30:425-432 ( (Sept) ) 1962. 14. Kunstadter, R.H., et al: Idiopathic Hypoparathyroidism in the Newborn , Amer J Dis Child 105: 499-506 ( (May) ) 1963.Crossref 15. Smith, F.G., Jr., and Sike, K.: Idiopathic Hypoparathyroidism in Neonatal Period , Amer J Dis Child 105:182-187 ( (Feb) ) 1963.Crossref 16. Melick, R.A., et al: Antibodies and Clinical Resistance to Parathyroid Hormone , New Eng J Med 276:144-147 ( (Jan 19) ) 1967.Crossref 17. Morgan, H.G., et al: Studies on the Mode of Transport of Vitamin D in Human Serum , Trans Assoc Amer Physicians 71:93-99, 1958. 18. Warkany, J., and Mabon, H.E.: Estimation of Vitamin D in Blood Serum: II. Level of Vitamin D in Human Blood Serums , Amer J Dis Child 60: 606-614 ( (Sept) ) 1940.Crossref 19. Rhyne, J.L., and Carriker, F.R.: Idiopathic Hypoparathyroidism and Bilateral Congenital Glaucoma in the Neonatal Period , Pediatrics 18:448-454 ( (Sept) ) 1956. 20. Wilkins, L.: The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence , Springfield, Ill: Charles C Thomas, Publisher, 1965. 21. Gellis, S.S., and Kagan, B.M.: Current Pediatric Therapy 1966-1967 , Philadelphia: W. B. Saunders Co., 1966. 22. Harrison, H.E.; Lifshitz, F.; and Blizzard, R.M.: Comparison Between Crystalline Dihydrotachysterol and Calciferol in Patients Requiring Pharmacologic Vitamin D Therapy , New Eng J Med 276:894-900 ( (April 20) ) 1967.Crossref 23. Bronsky, D., et al: Intrauterine Hyperparathyroidism Secondary to Maternal Hypoparathyroidism , Pediatrics 42:606-613, 1968. 24. Peden, V.H.: True Idiopathic Hypoparathyroidism as a Sex-Linked Recessive Trait , Amer J Hum Genet 12:323-337, 1960. 25. Bruck, E.: Etiology, Manifestations, and Management of Disorders of Calcium Metabolism in Children , Quart Rev Pediat 16:102-114 ( (April-June) ) 1961.

Journal

American Journal of Diseases of Children – American Medical Association

Published: Jan 1, 1970

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