Literature DB >> 8185370

Evolution of pseudohypoparathyroidism: an informative family study.

D G Barr1, H F Stirling, J A Darling.   

Abstract

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.

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Year:  1994        PMID： 8185370      PMCID： PMC1029790          DOI： 10.1136/adc.70.4.337

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  6 in total

1.  Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy.

Authors:  J L Patten; D R Johns; D Valle; C Eil; P A Gruppuso; G Steele; P M Smallwood; M A Levine
Journal:  N Engl J Med       Date:  1990-05-17       Impact factor: 91.245

2.  Normocalcemic pseudohypoparathyroidism. Association with normal vitamin D3 metabolism.

Authors:  M K Drezner; M R Haussler
Journal:  Am J Med       Date:  1979-03       Impact factor: 4.965

Review 3.  Albright's hereditary osteodystrophy: a review.

Authors:  N Fitch
Journal:  Am J Med Genet       Date:  1982-01

4.  Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein.

Authors:  M A Levine; R W Downs; A M Moses; N A Breslau; S J Marx; R D Lasker; R E Rizzoli; G D Aurbach; A M Spiegel
Journal:  Am J Med       Date:  1983-04       Impact factor: 4.965

5.  Plasma cyclic AMP response to intravenous parathyroid hormone in pseudohypoparathyroidism.

Authors:  H F Stirling; J A Darling; D G Barr
Journal:  Acta Paediatr Scand       Date:  1991-03

6.  Endocrine and molecular biological studies in a German family with Albright hereditary osteodystrophy.

Authors:  V Schuster; T Eschenhagen; K Kruse; P Gierschik; H W Kreth
Journal:  Eur J Pediatr       Date:  1993-03       Impact factor: 3.183
  6 in total
  2 in total

Review 1.  Pseudohypoparathyroidism, acrodysostosis, progressive osseous heteroplasia: different names for the same spectrum of diseases?

Authors:  Francesca Marta Elli; Giovanna Mantovani
Journal:  Endocrine       Date:  2020-11-11       Impact factor: 3.633

Review 2.  Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.

Authors:  Giovanna Mantovani; Murat Bastepe; David Monk; Luisa de Sanctis; Susanne Thiele; Alessia Usardi; S Faisal Ahmed; Roberto Bufo; Timothée Choplin; Gianpaolo De Filippo; Guillemette Devernois; Thomas Eggermann; Francesca M Elli; Kathleen Freson; Aurora García Ramirez; Emily L Germain-Lee; Lionel Groussin; Neveen Hamdy; Patrick Hanna; Olaf Hiort; Harald Jüppner; Peter Kamenický; Nina Knight; Marie-Laure Kottler; Elvire Le Norcy; Beatriz Lecumberri; Michael A Levine; Outi Mäkitie; Regina Martin; Gabriel Ángel Martos-Moreno; Masanori Minagawa; Philip Murray; Arrate Pereda; Robert Pignolo; Lars Rejnmark; Rebecca Rodado; Anya Rothenbuhler; Vrinda Saraff; Ashley H Shoemaker; Eileen M Shore; Caroline Silve; Serap Turan; Philip Woods; M Carola Zillikens; Guiomar Perez de Nanclares; Agnès Linglart
Journal:  Nat Rev Endocrinol       Date:  2018-08       Impact factor: 43.330
  2 in total

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