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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.
In addition to these alterations, patients may develop other hormonal resistances, leading to overt or subclinical hypothyroidism, hypogonadism and growth hormone (GH) deficiency, impaired growth without measurable evidence for hormonal abnormalities, type 2 diabete …
In addition to these alterations, patients may develop other hormonal resistances, leading to overt or subclinical hypothyroidism, hypogonad …
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.
Patients should be screened at diagnosis and during follow-up for specific features, such as PTH resistance, TSH resistance, growth hormone deficiency, hypogonadism, skeletal deformities, oral health, weight gain, glucose intolerance or type 2 diabetes mellitus, and …
Patients should be screened at diagnosis and during follow-up for specific features, such as PTH resistance, TSH resistance, growth hormone …
Pseudohypoparathyroidism.
Ucciferro P, Anastasopoulou C. Ucciferro P, et al. 2023 Sep 4. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Sep 4. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 31613489 Free Books & Documents.
However, instead of having low PTH levels, elevated levels of PTH are present in serum. PHP is typically classified as either type 1 or type 2, and then type 1 is further subdivided into 1a, 1b, or 1c. Type 1 is distinguishable from type 2 by the abnor …
However, instead of having low PTH levels, elevated levels of PTH are present in serum. PHP is typically classified as either type 1 or t …
Nonclassic features of pseudohypoparathyroidism type 1A.
Shoemaker AH, Jüppner H. Shoemaker AH, et al. Curr Opin Endocrinol Diabetes Obes. 2017 Feb;24(1):33-38. doi: 10.1097/MED.0000000000000306. Curr Opin Endocrinol Diabetes Obes. 2017. PMID: 27875418 Free PMC article. Review.
Obesity may be because of a decrease in resting energy expenditure because most patients do not report significant hyperphagia. Patients with PHP1A have an increased risk of type 2 diabetes. In addition to brachydactyly and short stature, orthopedic complications ca …
Obesity may be because of a decrease in resting energy expenditure because most patients do not report significant hyperphagia. Patients wit …
Pathogenesis of pseudohypoaldosteronism type 2 by WNK1 mutations.
Bergaya S, Vidal-Petiot E, Jeunemaitre X, Hadchouel J. Bergaya S, et al. Curr Opin Nephrol Hypertens. 2012 Jan;21(1):39-45. doi: 10.1097/MNH.0b013e32834d2fde. Curr Opin Nephrol Hypertens. 2012. PMID: 22080857 Review.
PURPOSE OF REVIEW: Pseudohypoaldosteronism type 2 (PHA2) is a rare autosomal dominant form of human arterial hypertension, associated with hyperkalemia and hyperchloremic metabolic acidosis. ...
PURPOSE OF REVIEW: Pseudohypoaldosteronism type 2 (PHA2) is a rare autosomal dominant form of human arterial hypertension, ass …
Albright's hereditary osteodystrophy and pseudohypoparathyroidism.
Wilson LC, Hall CM. Wilson LC, et al. Semin Musculoskelet Radiol. 2002 Dec;6(4):273-83. doi: 10.1055/s-2002-36726. Semin Musculoskelet Radiol. 2002. PMID: 12541184 Review.
PHP means end-organ resistance to PTH and is subclassified into types Ia, Ib, and Ic and type II. Pseudopseudohypoparathyroidism (PPHP) is a term used for individuals with AHO who have normal end-organ responses to PTH. ...Isolated PTH resistance (PHPIb) can result …
PHP means end-organ resistance to PTH and is subclassified into types Ia, Ib, and Ic and type II. Pseudopseudohypoparathyroidi …
Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.
Turan S. Turan S. J Clin Res Pediatr Endocrinol. 2017 Dec 30;9(Suppl 2):58-68. doi: 10.4274/jcrpe.2017.S006. Epub 2017 Dec 27. J Clin Res Pediatr Endocrinol. 2017. PMID: 29280743 Free PMC article. Review.
These are termed, starting from PTH receptor inactivation mutation (Eiken and Blomstrand dysplasia) as iPPSD1, inactivating Gsalpha mutations (PHP-Ia, PHP-Ic and pPHP) as iPPSD2, loss of methylation of GNAS DMRs (PHP-Ib) as iPPSD3, PRKAR1A mutations (acrodysostosis type 1) as iPP …
These are termed, starting from PTH receptor inactivation mutation (Eiken and Blomstrand dysplasia) as iPPSD1, inactivating Gsalpha mutation …
Genetics and epigenetics of parathyroid hormone resistance.
Bastepe M. Bastepe M. Endocr Dev. 2013;24:11-24. doi: 10.1159/000342494. Epub 2013 Feb 1. Endocr Dev. 2013. PMID: 23392091 Review.
In type I, the PTH-induced urinary excretion of both phosphate and cyclic AMP (cAMP) is blunted. In type II, only the PTH-induced urinary excretion of phosphate is blunted, while the cAMP response is unimpaired. ...Mutations in Gsalpha-coding GNAS exons cause PHP-Ia …
In type I, the PTH-induced urinary excretion of both phosphate and cyclic AMP (cAMP) is blunted. In type II, only the PTH-indu …
Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations.
Ertl DA, de Nanclares GP, Jüppner H, Hanna P, Pagnano A, Pereda A, Rothenbuhler A, Del Sindaco G, Ruiz-Cuevas P, Audrain C, Escribano A, Berkenou J, Gleiss A, Mantovani G, Linglart A. Ertl DA, et al. Eur J Endocrinol. 2023 Jul 20;189(1):123-131. doi: 10.1093/ejendo/lvad085. Eur J Endocrinol. 2023. PMID: 37440712
BACKGROUND: Maternal inactivating GNAS mutations lead to pseudohypoparathyroidism 1A (PHP1A), newly classified as inactivating parathyroid hormone (PTH)/PTHrP-signaling disorder type 2 of maternal inheritance (iPPSD2). Patients present with resistance to PTH and oth …
BACKGROUND: Maternal inactivating GNAS mutations lead to pseudohypoparathyroidism 1A (PHP1A), newly classified as inactivating parathyroid h …
Pseudohypoparathyroidism type II in a woman with a history of thyroid surgery.
Murakami T, Nambu T, Morimoto Y, Matsuda Y, Matsuo K, Yonemitsu S, Muro S, Oki S. Murakami T, et al. Intern Med. 2014;53(7):743-7. doi: 10.2169/internalmedicine.53.1617. Epub 2012 Mar 1. Intern Med. 2014. PMID: 24694489 Free article.
We herein describe the case of a woman with pseudohypoparathyroidism (PHP) type II. She had a history of subtotal thyroidectomy against Graves' disease without levothyroxine supplementation and presented with stiffness, numbness and muscle cramps. ...This case demon …
We herein describe the case of a woman with pseudohypoparathyroidism (PHP) type II. She had a history of subtotal thyroidectom …
81 results