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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. Mantovani G, et al. Nat Rev Endocrinol. 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. Nat Rev Endocrinol. 2018. PMID: 29959430 Free PMC article. Review.
This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a …
This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and …
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. Mantovani G, et al. Horm Res Paediatr. 2020;93(3):182-196. doi: 10.1159/000508985. Epub 2020 Aug 5. Horm Res Paediatr. 2020. PMID: 32756064 Free PMC article. Review.
Patients affected by pseudohypoparathyroidism (PHP) or related disorders are characterized by physical findings that may include brachydactyly, a short stature, a stocky build, early-onset obesity, ectopic ossifications, and neurodevelopmental deficits, as well as hormonal …
Patients affected by pseudohypoparathyroidism (PHP) or related disorders are characterized by physical findings that may include brac …
Clinical review: Pseudohypoparathyroidism: diagnosis and treatment.
Mantovani G. Mantovani G. J Clin Endocrinol Metab. 2011 Oct;96(10):3020-30. doi: 10.1210/jc.2011-1048. Epub 2011 Aug 3. J Clin Endocrinol Metab. 2011. PMID: 21816789 Review.
CONTEXT: The term pseudohypoparathyroidism (PHP) indicates a group of heterogeneous disorders whose common feature is represented by impaired signaling of various hormones (primarily PTH) that activate cAMP-dependent pathways via Gsalpha protein. ...EVIDENCE ACQUISITION: A …
CONTEXT: The term pseudohypoparathyroidism (PHP) indicates a group of heterogeneous disorders whose common feature is represented by …
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. Jiang S, et al. Eur J Endocrinol. 2023 Nov 8;189(5):S103-S111. doi: 10.1093/ejendo/lvad142. Eur J Endocrinol. 2023. PMID: 37837607
BACKGROUND: Pseudohypoparathyroidism type 1a (PHP1a) is a rare endocrine disease caused by partial defects of the alpha subunit of the stimulatory Guanosin triphosphate (GTP) binding protein (Gsalpha) resulting from maternal GNAS gene variation. ...
BACKGROUND: Pseudohypoparathyroidism type 1a (PHP1a) is a rare endocrine disease caused by partial defects of the alpha subunit of th …
What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.
Pereda A, Garin I; Spanish Network for Imprinting Disorders; Perez de Nanclares G. Pereda A, et al. BMC Med Genet. 2018 Mar 2;19(1):32. doi: 10.1186/s12881-018-0530-z. BMC Med Genet. 2018. PMID: 29499646 Free PMC article.
BACKGROUND: Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. ...
BACKGROUND: Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases …
Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.
Fernández-Rebollo E, Lecumberri B, Gaztambide S, Martinez-Indart L, Perez de Nanclares G, Castaño L; Spanish PHP Group. Fernández-Rebollo E, et al. J Clin Endocrinol Metab. 2013 May;98(5):E996-1006. doi: 10.1210/jc.2012-4164. Epub 2013 Mar 26. J Clin Endocrinol Metab. 2013. PMID: 23533243
CONTEXT: Recent advances in genetics and epigenetics have revealed an overlap between molecular and clinical features of pseudohypoparathyroidism (PHP) subtypes, broadening the previous spectrum of PHP genotype-phenotype correlations and indicating limitations of the curre …
CONTEXT: Recent advances in genetics and epigenetics have revealed an overlap between molecular and clinical features of pseudohypoparath …
Pathogenesis and management of hypoparathyroidism and other hypocalcemic disorders.
Schneider AB, Sherwood LM. Schneider AB, et al. Metabolism. 1975 Jul;24(7):871-98. doi: 10.1016/0026-0495(75)90134-1. Metabolism. 1975. PMID: 166271
However, acute or chronci disorders associated with hypomagnesemia may also decrease effective PTH secretion. Patients with the rare disorder, pseudohypoparathyroidism, have defects of hormone action and usually have elevated levels of PTH prior to therapy. ...Vitam …
However, acute or chronci disorders associated with hypomagnesemia may also decrease effective PTH secretion. Patients with the rare disorde …
Calcitonin screening and pentagastrin testing: predictive value for the diagnosis of medullary carcinoma in nodular thyroid disease.
Herrmann BL, Schmid KW, Goerges R, Kemen M, Mann K. Herrmann BL, et al. Eur J Endocrinol. 2010 Jun;162(6):1141-5. doi: 10.1530/EJE-10-0111. Epub 2010 Mar 23. Eur J Endocrinol. 2010. PMID: 20332126
All patients did not have impaired renal function, bacterial infection, alcohol and drug abuse, pseudohypoparathyroidism, or proton-pump inhibitor therapy. Individuals referred with known elevation of hCT, Graves' disease, or autoimmune thyroid disease were not cons …
All patients did not have impaired renal function, bacterial infection, alcohol and drug abuse, pseudohypoparathyroidism, or proton-p …
Hormone resistance in children: what primary care physicians need to know.
Metwalley K, Farghaly H. Metwalley K, et al. Acta Biomed. 2021 Sep 2;92(4):e2021255. doi: 10.23750/abm.v92i4.11613. Acta Biomed. 2021. PMID: 34487068 Free PMC article.
Various disorders of hormone resistance were encountered including, Laron syndrome, nephrogenic diabetes insipidus, thyroid hormone resistance syndrome, pseudohypoparathyroidism, insulin resistance, familial glucocorticoid deficiency, pseudohypoaldosteronism, X linked hypo …
Various disorders of hormone resistance were encountered including, Laron syndrome, nephrogenic diabetes insipidus, thyroid hormone resistan …
Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series.
Elli FM, Barbieri AM, Bordogna P, Ferrari P, Bufo R, Ferrante E, Giardino E, Beck-Peccoz P, Spada A, Mantovani G. Elli FM, et al. Bone. 2013 Oct;56(2):276-80. doi: 10.1016/j.bone.2013.06.015. Epub 2013 Jun 21. Bone. 2013. PMID: 23796510 Free article.
Maternally inherited mutations as well as epigenetic defects of the same gene lead to pseudohypoparathyroidism (PHP) and Albright's hereditary osteodystrophy (AHO). ...
Maternally inherited mutations as well as epigenetic defects of the same gene lead to pseudohypoparathyroidism (PHP) and Albright's h …
25 results