...References References 1. Underbjerg L, Sikjaer T, Mosekilde L, Rejnmark L: Pseudohypoparathyroidism - epidemiology, mortality and risk of complications. Clin Endocrinol 2016;84:904. 2. Albright F, Burnett CH, Smith PH, Parson W: Pseudohypoparathyroidsman example of “Seabright syndrome...

...References References 1. Albright F, Burnett CH, Smith PH, Parson W: Pseudohypoparathyroidism - an example of ‘Seabright-Bantam syndrome’. Endocrinology 1942;30:922-932 2. Chase LR, Melson GL, Aurbach GD: Pseudohypoparathyroidism: defective excretion of 3’, 5'-AMP in response...

... Abstract End-organ resistance to the actions of parathyroid hormone (PTH) is defined as pseudohypoparathyroidism (PHP). Described originally by Fuller Albright and his colleagues in early 1940s, this rare genetic disease is subclassified into two types according to the nephrogenous response...

... Abstract Pseudohypoparathyroidism (PHP), pseudo-PHP, acrodysostosis, and progressive osseous heteroplasia are heterogeneous disorders characterized by physical findings, differently associated in each subtype, including short bones, short stature, a stocky build, ectopic ossifications (features...

... Steroid Biochem Mol Biol 2016;164:386-394. 48. Mantovani G, Spada A, Elli FM: Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues. Nat Rev Endocrinol 2016;12:347-356. 49. Bastepe M, Jüppner H: GNAS locus and pseudohypoparathyroidism. Horm Res 2005;63:65-74. 50...

... cortex cells, where it may play a role in controlling body energy, blood pressure, and metabolism. Cardiometabolic features have been investigated in the wide spectrum of clinical parathyroid disorders, from hyperparathyroidism to pseudohypoparathyroidism and hypoparathyroidism. Indeed, in parathyroid...

..., Bollati V, Vaira V, Labarile P, Bondioni S, Peverelli E, Lania AG, Beck-Peccoz P, Spada A: Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients. J Clin Endocrinol Metab 2010;95:651-658. 29. Wilson LC, Oude...

..., Weinstein LS, Shenker A: Abnormalities in G protein-coupled signal transduction pathways in human disease. J Clin Invest 1993;92:1119. 41. Nakamoto JM, Sandstrom AT, Brickman AS, Christenson RA, Dop CV: Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsα gene mutation...

... genes on 15q11-13. Wealso discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome,Albright’s hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome,Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34...

...; at 6q24); Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (at 11p15.5; 2 imprinted domains); maternaland paternal uniparental disomy syndromes (at 14q32); Angelman and Prader-Willi syndromes (at15q11-13), and pseudohypoparathyroidism type 1b (at 20q12-13). Furthermore, it is now recognised...

... in pseudohypoparathyroidism (PHP). The category related to vitamin D can also be subdivided into a lack of the essential substrate 25OHD, as seen in vitamin D deficiency, or an impairment of its metabolism, as in 1α-hydroxylase deficiency, or the loss of end organ vitamin D function. The category related to the calcium...

... Hormone During the 1920s, the role of the parathyroid glands in secreting a calcium-raising hormone was clarified [ 6 ]. The first description of hypoparathyroidism was made in 1929 [ 7 ] and was followed by the description of parathyroid hormone resistance in pseudohypoparathyroidism in 1942 [ 8...

... 1929;7:183-201. 8. Albright FBC, Smith PH, Parson W: Pseudohypoparathyroidism - an example of the ‘Seabright-Bantam syndrome'. Endocrinology 1942;30:922-932. 9. Matsumine H, Wilson JD, McPhaul MJ: Sebright and Campine chickens express aromatase P-450 messenger RNA inappropriately...

.... Jensen SB, Illum F, Dupont E: Nature and frequency of dental changes in idiopathic hypoparathyroidism and pseudohypoparathyroidism. Scand J Dent Res 1981;89:26-37. 25. Tanimoto K, Okubo Y, Harada C, Saito H, Sata A, Nishikawa A, Ohwada R, Tsuiki M, Yamamoto M, Hashimoto E, Sato K, Takano K: Latent...

...) [ 37 ]. Syndromes of PTH Resistance End-organ resistance to PTH, also known as pseudohypoparathyroidism (PHP), refers to a group of heterogeneous disorders characterized by target organ unresponsiveness to PTH. The biochemical findings in PTH resistance include hypocalcemia, hyperphosphatemia...

...: Iodide transport defect Case 3: Pendred syndrome Case 4: TSH resistance Case 5: Pseudohypoparathyroidism type 1A Case 6: Central hypothyroidism Case 7: Syndromic central hypothyroidism Case 8: Congenital hypothyroidism in twins Thyroid Hormone Cell Membrane Transport and Action...