Evolution of pseudohypoparathyroidism: an informative family study

An adult woman with pseudopseudohypoparathyroidism had a child with normal calcium and parathyroid hormone concentrations and cyclic AMP response to injected parathyroid hormone in infancy. By 2.5 years he had features of pseudohypoparathyroidism with raised parathyroid hormone and 'flat'...

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Bibliographic Details
Published in:Archives of disease in childhood 1994-04, Vol.70 (4), p.337-338
Main Authors: Barr, D G, Stirling, H F, Darling, J A
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Calcium - blood
Children
Cyclic AMP
Cyclic AMP - blood
Endocrinopathies
Family studies
Female
Follow-Up Studies
Humans
Infant, Newborn
Male
Medical sciences
Non tumoral diseases. Target tissue resistance. Benign neoplasms
Parathyroid hormone
Parathyroid Hormone - blood
Parathyroids. Parafollicular cells. Cholecalciferol. Phosphocalcic homeostasis (diseases)
Pediatrics
Phosphates - blood
Pseudohypoparathyroidism
Pseudohypoparathyroidism - blood
Pseudohypoparathyroidism - genetics
Pseudopseudohypoparathyroidism - blood
Pseudopseudohypoparathyroidism - genetics
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Summary:An adult woman with pseudopseudohypoparathyroidism had a child with normal calcium and parathyroid hormone concentrations and cyclic AMP response to injected parathyroid hormone in infancy. By 2.5 years he had features of pseudohypoparathyroidism with raised parathyroid hormone and 'flat' cyclic AMP response. This is the first documented case of a change in parathyroid hormone responsiveness. The abnormal cyclic AMP response to parathyroid hormone in pseudohypoparathyroidism can evolve during childhood.
ISSN:0003-9888
1468-2044
DOI:10.1136/adc.70.4.337