Literature DB >> 17137912

Presentation and clinical progression of pseudohypoparathyroidism with multi-hormone resistance and Albright hereditary osteodystrophy: a case series.

Inessa M Gelfand1, Erica A Eugster, Linda A DiMeglio.   

Abstract

Anthropometric and biochemical features were retrospectively evaluated in 12 patients with pseudohypoparathyroidism, Albright hereditary osteodystrophy, and multi-hormone resistance. Hypothyroidism and subcutaneous calcifications were presenting features in younger children. Temporal trends in stimulatory hormone resistance included early thyroid-stimulating hormone elevation and progression from parathyroid hormone elevation to hyperphosphatemia and hypocalcemia.

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Year:  2006        PMID： 17137912     DOI： 10.1016/j.jpeds.2006.08.050

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  19 in total

1.  Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruption.

Authors:  Serap Turan; Eduardo Fernandez-Rebollo; Cumhur Aydin; Teuta Zoto; Monica Reyes; George Bounoutas; Min Chen; Lee S Weinstein; Reinhold G Erben; Vladimir Marshansky; Murat Bastepe
Journal:  J Bone Miner Res       Date:  2014-03       Impact factor: 6.741

Review 2.  Etiology and treatment of hypogonadism in adolescents.

Authors:  Vidhya Viswanathan; Erica A Eugster
Journal:  Pediatr Clin North Am       Date:  2011-10       Impact factor: 3.278

Review 3.  GNAS Spectrum of Disorders.

Authors:  Serap Turan; Murat Bastepe
Journal:  Curr Osteoporos Rep       Date:  2015-06       Impact factor: 5.096

4.  Prolonged spontaneous normocalcaemia in pseudohypoparathyroidism from resorption of soft tissue calcium deposits: a cautionary tale.

Authors:  Erin E Carter; Gregory Kline
Journal:  BMJ Case Rep       Date:  2014-01-30

5.  Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy.

Authors:  Andrew W Joseph; Ashley H Shoemaker; Emily L Germain-Lee
Journal:  J Clin Endocrinol Metab       Date:  2011-04-27       Impact factor: 5.958

Review 6.  Etiology and treatment of hypogonadism in adolescents.

Authors:  Vidhya Viswanathan; Erica A Eugster
Journal:  Endocrinol Metab Clin North Am       Date:  2009-12       Impact factor: 4.741

Review 7.  The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene.

Authors:  Serap Turan; Murat Bastepe
Journal:  Horm Res Paediatr       Date:  2013-10-03       Impact factor: 2.852

8.  Prevalence of Nephrocalcinosis in Pseudohypoparathyroidism: Is Screening Necessary?

Authors:  David W Hansen; Todd D Nebesio; Linda A DiMeglio; Erica A Eugster; Erik A Imel
Journal:  J Pediatr       Date:  2018-04-23       Impact factor: 4.406

9.  Ectopic calcification as discernible manifestation in neonates with pseudohypoparathyroidism type 1a.

Authors:  Masanori Adachi; Koji Muroya; Yumi Asakura; Yoichi Kondoh; Jun Ishihara; Tomonobu Hasegawa
Journal:  Int J Endocrinol       Date:  2009       Impact factor: 3.257

Review 10.  Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.

Authors:  Giovanna Mantovani; Murat Bastepe; David Monk; Luisa de Sanctis; Susanne Thiele; S Faisal Ahmed; Roberto Bufo; Timothée Choplin; Gianpaolo De Filippo; Guillemette Devernois; Thomas Eggermann; Francesca M Elli; Aurora Garcia Ramirez; Emily L Germain-Lee; Lionel Groussin; Neveen A T Hamdy; Patrick Hanna; Olaf Hiort; Harald Jüppner; Peter Kamenický; Nina Knight; Elvire Le Norcy; Beatriz Lecumberri; Michael A Levine; Outi Mäkitie; Regina Martin; Gabriel Ángel Martos-Moreno; Manasori Minagawa; Philip Murray; Arrate Pereda; Robert Pignolo; Lars Rejnmark; Rebeca 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:  Horm Res Paediatr       Date:  2020-08-05       Impact factor: 2.852
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