假性甲状旁腺功能减退症

Mantovani G, Bastepe M, Monk D, et al. Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement. Nat Rev Endocrinol. 2018 Aug;14(8):476-500.全文  摘要

Mantovani G, Bastepe M, Monk D, et al. Recommendations for diagnosis and treatment of pseudohypoparathyroidism and related disorders: an updated practical tool for physicians and patients. Horm Res Paediatr. 2020;93(3):182-96.全文  摘要

American Society for Bone and Mineral Research. Primer on the metabolic bone diseases and disorders of mineral metabolism. 9th ed. 2018 [internet publication].全文

Mantovani G, Spada A. Mutations in the Gs alpha gene causing hormone resistance. Best Prac Res Clin Endocrinol Metab. 2006 Dec;20(4):501-13. 摘要

Bastepe M. The GNAS locus and pseudohypoparathyroidism. Adv Exp Med Bio. 2008;626:27-40. 摘要

Greer FR, Krebs NF; American Academy of Pediatrics Committee on Nutrition. Optimizing bone health and calcium intakes of infants, children, and adolescents. Pediatrics. 2006 Feb;117(2):578-85.全文  摘要

1. Mantovani G, Bastepe M, Monk D, et al. Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement. Nat Rev Endocrinol. 2018 Aug;14(8):476-500.全文  摘要

2. Mantovani G, Bastepe M, Monk D, et al. Recommendations for diagnosis and treatment of pseudohypoparathyroidism and related disorders: an updated practical tool for physicians and patients. Horm Res Paediatr. 2020;93(3):182-96.全文  摘要

3. Spiegel AM, Weinstein LS. Pseudohypoparathyroidism. In: Scriver CR, Beaudet AL, Sly WS, et al, eds. The metabolic and molecular bases of inherited disease. 7th ed. New York, NY: McGraw-Hill; 1995:3073-89.

4. American Society for Bone and Mineral Research. Primer on the metabolic bone diseases and disorders of mineral metabolism. 9th ed. 2018 [internet publication].全文

5. Mantovani G, de Sanctis L, Barbieri AM, et al. Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of Albright hereditary osteodystrophy and molecular analysis in 40 patients. J Clin Endocrinol Metab. 2010 Feb;95(2):651-8. 摘要

6. Mantovani G. Pseudohypoparathyroidism: diagnosis and treatment. J Clin Endocrinol Metab. 2011 Oct;96(10):3020-30. 摘要

7. Thiele S, de Sanctis L, Werner R, et al. Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction. Hum Mutat. 2011 Jun;32(6):653-60. 摘要

8. Al-Salameh A, Despert F, Kottler ML, et al. Resistance to epinephrine and hypersensitivity (hyperresponsiveness) to CB1 antagonists in a patient with pseudohypoparathyroidism type Ic. Eur J Endocrinol. 2010 Apr;162(4):819-24. 摘要

9. Nakamura Y, Matsumoto T, Tamakoshi A, et al. Prevalence of idiopathic hypoparathyroidism and pseudohypoparathyroidism in Japan. J Epidemiol. 2000 Jan;10(1):29-33. 摘要

10. Underbjerg L, Sikjaer T, Mosekilde L, et al. Pseudohypoparathyroidism - epidemiology, mortality and risk of complications. Clin Endocrinol (Oxf). 2016 Jun;84(6):904-11. 摘要

11. Mantovani G, Spada A. Mutations in the Gs alpha gene causing hormone resistance. Best Prac Res Clin Endocrinol Metab. 2006 Dec;20(4):501-13. 摘要

12. Bastepe M. The GNAS locus and pseudohypoparathyroidism. Adv Exp Med Bio. 2008;626:27-40. 摘要

13. Weinstein LS. Albright hereditary osteodystrophy, pseudohypoparathyroidism, and Gs deficiency. In: Spiegel AM, ed. G proteins, receptors, and disease. Totowa, NJ: Humana Press; 1998:23-56.

14. Weinstein LS, Yu S, Warner DR, et al. Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr Rev. 2001 Oct;22(5):675-705. 摘要

15. Chen M, Wang J, Dickerson KE, et al. Central nervous system imprinting of the G protein G(s)alpha and its role in metabolic regulation. Cell Metab. 2009 Jun;9(6):548-55.全文  摘要

16. Yu S, Yu D, Lee E, et al. Variable and tissue-specific hormone resistance in hetero-trimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the Gsalpha gene. Proc Natl Acad Sci U S A. 1998 Jul 21;95(15):8715-20.全文  摘要

17. Hayward BE, Barlier A, Korbonits M, et al. Imprinting of the Gsalpha gene GNAS1 in the pathogenesis of acromegaly. J Clin Invest. 2001 Mar;107(6):R31-6.全文  摘要

18. Mantovani G, Bondioni S, Linglart A, et al. Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab. 2007 Sep;92(9):3738-42. 摘要

19. Germain-Lee EL, Ding CL, Deng Z, et al. Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a. Biochem Biophys Res Commun. 2002 Aug 9;296(1):67-72. 摘要

20. Liu J, Erlichman B, Weinstein LS. The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. J Clin Endocrinol Metab. 2003 Sep;88(9):4336-41. 摘要

21. Bastepe M. Genetics and epigenetics of parathyroid hormone resistance. Endocr Dev. 2013 Feb 1;24:11-24. 摘要

22. Pasolli HA, Klemke M, Kehlenbach RH, et al. Characterization of the extra-large G protein alpha-subunit XLalphas. I. Tissue distribution and subcellular localization. J Biol Chem. 2000 Oct 27;275(43):33622-32.全文  摘要

23. Klemke M, Pasolli HA, Kehlenbach RH, et al. Characterization of the extra-large G protein alpha-subunit XLalphas. II. Signal transduction properties. J Biol Chem. 2000 Oct 27;275(43):33633-40.全文  摘要

24. Klemke M, Kehlenbach RH, Huttner WB. Two overlapping reading frames in a single exon encode interacting proteins: a novel way of gene usage. EMBO J. 2001 Jul 16;20(14):3849-60.全文  摘要

25. Wilkinson LS, Davies W, Isles AR. Genomic imprinting effects on brain development and functions. Nat Rev Neurosci. 2007 Nov;8(11):832-43. 摘要

26. Van Dop C, Bourne HR, Neer RM. Father to son transmission of decreased Ns activity in pseudohypoparathyroidism type Ia. J Clin Endocrinol Metab. 1984 Nov;59(5):825-8. 摘要

27. Winter JS, Hughes IA. Familial pseudohypoparathyroidism without somatic anomalies. Can Med Assoc J. 1980 Jul 5;123(1):26-31.全文  摘要

28. Silve C, Santora A, Breslau N, et al. Selective resistance to parathyroid hormone in cultured skin fibroblasts from patients with pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab. 1986 Apr;62(4):640-4. 摘要

29. Adachi M, Muroya K, Asakura Y, et al. Ectopic calcification as discernible manifestation in neonates with pseudohypoparathyroidism type 1a. Int J Endocrinol. 2009;2009:931057.全文  摘要

30. Thomas KP, Muthugovindan D, Singer HS. Paroxysmal kinesigenic dyskinesias and pseudohypo-parathyroidism type Ib. Pediatr Neurol. 2010 Jul;43(1):61-4. 摘要

31. de Sanctis L, Vai S, Andreo MR, et al. Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients. J Clin Endocrinol Metab. 2004 Apr;89(4):1650-5. 摘要

32. Pereda A, Garin I, Spanish Network for Imprinting Disorders., et al. What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis. BMC Med Genet. 2018 Mar 2;19(1):32.全文  摘要

33. Sbrocchi AM, Rauch F, Lawson ML, et al. Osteosclerosis in two brothers with autosomal dominant pseudohypoparathyroidism type 1b: bone histomorphometric analysis. Eur J Endocrinol. 2011 Feb;164(2):295-301. 摘要

34. Winter J, Hiort O, Hermanns P, et al. A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones. J Pediatr Endocrinol Metab. 2011;24(5-6):297-301. 摘要

35. Otheman Y, Khalloufi H, Benhima I, et al. Neuropsychiatric symptoms revealing pseudohypoparathyroidism with Fahr's syndrome [in French]. Encephale. 2011 Feb;37(1):54-8. 摘要

36. Martínez-Lage JF, Guillén-Navarro E, López-Guerrero AL, et al. Chiari type 1 anomaly in pseudohypoparathyroidism type Ia: pathogenetic hypothesis. Childs Nerv Syst. 2011 Dec;27(12):2035-9. 摘要

37. Merzoug V, Hamidou A, Garabedian M, et al. Radiologic anomalies of pseudohypoparathyroidism: diagnostic importance [in French]. J Radiol. 1999 Mar;80(3):285-90. 摘要

38. Long DN, Levine MA, Germain-Lee EL. Bone mineral density in pseudohypoparathyroidism type 1a. J Clin Endocrinol Metab. 2010 Sep;95(9):4465-75. 摘要

39. Barski A, Cuddapah S, Cui K, et al. High-resolution profiling of histone methylations in the human genome. Cell. 2007 May 18;129(4):823-37. 摘要

40. Liu J, Litman D, Rosenberg MJ, et al. A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. J Clin Invest. 2000 Nov;106(9):1167-74.全文  摘要

41. Bastepe M, Fröhlich LF, Hendy GN, et al. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J Clin Invest. 2003 Oct;112(8):1255-63.全文  摘要

42. Shore EM, Ahn J, Jan de Beur S, et al. Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. N Engl J Med. 2002 Jan 10;346(2):99-106.全文  摘要

43. Yeh GL, Mathur S, Wivel A, et al. GNAS1 mutation and Cbfa1 misexpression in a child with severe congenital platelike osteoma cutis. J Bone Miner Res. 2000 Nov;15(11):2063-73. 摘要

44. Stieler K, Schnabel D, Atugoda S, et al. Albright hereditary osteodystrophy. Pediatr Dermatol. 2011 Mar-Apr;28(2):135-7. 摘要

45. Sanchez J, Perera E, Jan de Beur S, et al. Madelung-like deformity in pseudohypoparathyroidism type 1b. J Clin Endocrinol Metab. 2011 Sep;96(9):E1507-11. 摘要

46. Akın L, Kurtoğlu S, Yıldız A, et al. Vitamin D deficiency rickets mimicking pseudohypoparathyroidism. J Clin Res Pediatr Endocrinol. 2010;2(4):173-5.全文  摘要

47. Hsu SC, Levine MA. Perinatal calcium metabolism: physiology and pathophysiology. Semin Neonatol. 2004 Feb;9(1):23-36. 摘要

48. Mantovani G, Ferrante E, Giavoli C, et al. Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth. J Clin Endocrinol Metab. 2010 Nov;95(11):5011-7. 摘要

49. Germain-Lee EL, Groman J, Crane JL, et al. Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. J Clin Endocrinol Metab. 2003 Sep;88(9):4059-69. 摘要

50. Prendiville JS, Lucky AW, Mallory SB, et al. Osteoma cutis as a presenting sign of pseudohypoparathyroidism. Pediatr Dermatol. 1992 Mar;9(1):11-8. 摘要

51. Jiang Y, Hu H, Ye X, et al. Multilevel myelopathy associated with pseudohypoparathyroidism simulating diffuse skeletal hyperostosis: a case report and literature review. Spine (Phila Pa 1976). 2010 Nov 1;35(23):E1355-8. 摘要

52. Li P, Huang L, Zhao Z, et al. Spinal-cord compression related to pseudohypoparathyroidism. J Clin Neurosci. 2011 Jan;18(1):143-5. 摘要

53. Kobayashi K, Takahashi N, Jimi E, et al. Tumor necrosis factor alpha stimulates osteoclast differentiation by a mechanism independent of the ODF/RANKL-RANK interaction. J Exp Med. 2000 Jan 17;191(2):275-86.全文  摘要

54. Kovacs CS, Fuleihan GE. Calcium and bone disorders during pregnancy and lactation. Endocrinol Metab Clin N Am. 2006 Mar;35(1):21-51, v. 摘要

55. Marcucci G, Altieri P, Benvenga S, et al. Hypoparathyroidism and pseudohypoparathyroidism in pregnancy: an Italian retrospective observational study. Orphanet J Rare Dis. 2021 Oct 9;16(1):421.全文  摘要

56. Greer FR, Krebs NF; American Academy of Pediatrics Committee on Nutrition. Optimizing bone health and calcium intakes of infants, children, and adolescents. Pediatrics. 2006 Feb;117(2):578-85.全文  摘要

57. Lietman SA. Preimplantation genetic diagnosis for hereditary endocrine disease. Endocr Pract. 2011 Jul-Aug;17 Suppl 3:28-32. 摘要