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Pseudohypoparathyroidism and pseudopseudohypoparathyroidism

MedGen UID:
574970
•Concept ID:
C0342346
•
Disease or Syndrome
SNOMED CT: Pseudohypoparathyroidism and pseudopseudohypoparathyroidism (237658004)

Professional guidelines

PubMed

Genotype-phenotype correlations in pseudohypoparathyroidism type 1a patients: a systemic review.
Jiang S, Yang Y, Song A, Jiang Y, Jiang Y, Li M, Xia W, Nie M, Wang O, Xing X
Eur J Endocrinol 2023 Nov 8;189(5):S103-S111. doi: 10.1093/ejendo/lvad142. PMID: 37837607
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Garcia Ramirez A, Germain-Lee EL, Groussin L, Hamdy NAT, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A
Horm Res Paediatr 2020;93(3):182-196. Epub 2020 Aug 5 doi: 10.1159/000508985. PMID: 32756064Free PMC Article
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A
Nat Rev Endocrinol 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. PMID: 29959430Free PMC Article

Recent clinical studies

Etiology

Presentation of pseudohypoparathyroidism and pseudopseudohypoparathyroidism with skin lesions: Case reports and review.
Schneller-Pavelescu L, Vergara de Caso E, Pastor-Tomás N, Gutiérrez Agulló M, Ruiz Pérez L, Betlloch Mas I
Pediatr Dermatol 2019 May;36(3):355-359. Epub 2019 Feb 27 doi: 10.1111/pde.13769. PMID: 30809832

Diagnosis

Presentation of pseudohypoparathyroidism and pseudopseudohypoparathyroidism with skin lesions: Case reports and review.
Schneller-Pavelescu L, Vergara de Caso E, Pastor-Tomás N, Gutiérrez Agulló M, Ruiz Pérez L, Betlloch Mas I
Pediatr Dermatol 2019 May;36(3):355-359. Epub 2019 Feb 27 doi: 10.1111/pde.13769. PMID: 30809832
Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.
Cho SY, Yoon YA, Ki CS, Huh HJ, Yoo HW, Lee BH, Kim GH, Yoo JH, Kim SY, Kim SJ, Sohn YB, Park SW, Huh R, Chang MS, Lee J, Kwun Y, Maeng SH, Jin DK
Exp Clin Endocrinol Diabetes 2013 Oct;121(9):539-45. Epub 2013 Oct 14 doi: 10.1055/s-0033-1349867. PMID: 24127307
Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.
Jin HY, Lee BH, Choi JH, Kim GH, Kim JK, Lee JH, Yu J, Yoo JH, Ko CW, Lim HH, Chung HR, Yoo HW
Clin Endocrinol (Oxf) 2011 Aug;75(2):207-13. doi: 10.1111/j.1365-2265.2011.04026.x. PMID: 21521295
Intracranial calcification and brachydactyly mimicking Albright's hereditary osteodystrophy in an adult patient with lingual thyroid and prolactinoma-like lesion.
Tsai KS, Wu DJ, Lai SM, Gong ST
J Formos Med Assoc 1991 Feb;90(2):189-94. PMID: 1678415
Imaging paediatric endocrine disorders.
Cooke KM, Cowell C, Lam AH, De Silva M, Howman-Giles R, Donaghue K
Baillieres Clin Endocrinol Metab 1989 May;3(1):191-224. doi: 10.1016/s0950-351x(89)80027-8. PMID: 2679523

Clinical prediction guides

Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.
Jin HY, Lee BH, Choi JH, Kim GH, Kim JK, Lee JH, Yu J, Yoo JH, Ko CW, Lim HH, Chung HR, Yoo HW
Clin Endocrinol (Oxf) 2011 Aug;75(2):207-13. doi: 10.1111/j.1365-2265.2011.04026.x. PMID: 21521295

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