Literature DB >> 25646052

A case report of a 14 year old male with pseudohypoparathyroidism associated with multiple hormonal resistance.

Prasanthi Mannava1, Afshan Masood2, Ambika K Devi1.   

Abstract

Albright hereditary osteodystrophy (AHO) is a rare hereditary metabolic disorder that may or may not be associated with resistance to parathyroid hormone (pseudohypoparathyroidism) or other hormones. The disorder is commonly characterized by a constellation of dysmorphic physical features and with biochemical levels that demonstrate hypocalcaemia and hyperphosphatemia. We report here a clinical case of a 14 year old male with AHO and we discuss his clinical features, radiographic and laboratory findings along with treatment.

Entities:  

Keywords:  Albright’s hereditary osteodystrophy; GNAS1; Hormonal resistance; Hyperphosphatemia; Hypocalcaemia; Pseudohypoparathyroidism

Year:  2014        PMID： 25646052      PMCID： PMC4310850          DOI： 10.1007/s12291-014-0445-1

Source DB:  PubMed          Journal:  Indian J Clin Biochem        ISSN： 0970-1915


  3 in total

1.  Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy.

Authors:  M A Levine; T G Ahn; S F Klupt; K D Kaufman; P M Smallwood; H R Bourne; K A Sullivan; C Van Dop
Journal:  Proc Natl Acad Sci U S A       Date:  1988-01       Impact factor: 11.205

2.  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

3.  Pseudohypoparathyroidism: defective excretion of 3',5'-AMP in response to parathyroid hormone.

Authors:  L R Chase; G L Melson; G D Aurbach
Journal:  J Clin Invest       Date:  1969-10       Impact factor: 14.808
  3 in total
  1 in total

Review 1.  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
  1 in total

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