Clinical heterogeneity of pseudohypoparathyroidism: From hyper- to hypocalcemia

Hormone Research

Volumn 70, Issue 3, 2008, Pages 137-144

  Shalitin, Shlomit ^a,b   Davidovits, Miriam ^a,b   Lazar, Liora ^a,b   Weintrob, Naomi ^a,b  

^a SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

Hyper hypocalcemia; Hypocalciuria; Pseudohypoparathyroidism

Indexed keywords

ALFACALCIDOL; CALCIUM; GLUCOSE; PARATHYROID HORMONE; PHOSPHORUS; PROGESTERONE; THYROTROPIN; THYROXINE;

ADOLESCENT; AMENORRHEA; ANAMNESIS; ARTICLE; CALCIUM BLOOD LEVEL; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE CLASSIFICATION; DISEASE COURSE; FEMALE; FOLLOW UP; HORMONE RESISTANCE; HUMAN; HUMAN TISSUE; HYPERCALCEMIA; HYPERPHOSPHATEMIA; HYPOCALCEMIA; HYPOCALCIURIA; HYPOGLYCEMIA; HYPOTHYROIDISM; INFANT; LABORATORY TEST; MALE; NEWBORN; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM;

ADOLESCENT; CALCIUM; CHILD; CHILD, PRESCHOOL; FEMALE; FOLLOW-UP STUDIES; HUMANS; HYPOCALCEMIA; HYPOPARATHYROIDISM; INFANT; MALE; PARATHYROID HORMONE; PSEUDOHYPOPARATHYROIDISM;

EID: 47949099612     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000137658     Document Type: Article

References (31)

1. Levine MA, Downs RW Jr, Moses AM, Breslau NA, Marx SJ, Lasker RD, Rizzoli RE, Aurbach GD, Spiegel AM: Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein. Am J Med 1983;74:545-556.
2. Levine MA: Pseudohypoparathyroidism: from bedside to bench and back. J Bone Miner Res 1999;14:1255-1260.
3. Chase LR, Melson GL, Aurbach GD: Pseudohypoparathyroidism: defective excretion of 3′,5′-AMP in response to parathyroid hormone. J Clin Invest 1969;48:1832-1844.
4. Albright F, Burnett CH, Smith PH, Parson W: Pseudo-hypoparathyroidism - an example of 'Seabright-Bantam syndrome': report of three cases. Endocrinology 1942;30:922-932.
5. Levine MA, Jap TS, Mauseth RS, Downs RW, Spiegel AM: Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine and genetic analysis of Albright's hereditary osteodystrophy in six kindreds. J Clin Endocrinol Metab 1986;62:497-502.
6. s as the molecular basis for Albright hereditary osteodystrophy. Proc Natl Acad Sci USA 1988;85:617-621.
7. Linglart A, Carel JC, Garabédian M, LéT, Mallet E, Kottler ML: GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype-phenotype relationship and evidence of the maternal transmission of the hormonal resistance. J Clin Endocrinol Metab 2002;87:189-197.
8. Patten JL, Johns DR, Valle D, Eil C, Gruppuso PA, Steele G, Smallwood PM, Levine MA: Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. N Engl J Med 1990;322:1412-1419.
9. Davies SJ, Hughes HE: Imprinting in Albright's hereditary osteodystrophy. J Med Genet 1993;30:101-103.
10. Yu S, Yu D, Lee E, Eckhaus M, Lee R, Corria Z, Accili D, Westphal H, Weinstein LS: Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene. Proc Natl Acad Sci USA 1998;95:8715-8720.
11. Germain-Lee EL, Schwindinger W, Crane JL, Zewdu R, Zweifel LS, Wand G, Huso DL, Saji M, Ringel MD, Levine MA: A mouse model of Albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the GNAS gene. Endocrinology 2005;146:4697-4709.
12. s is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. J Clin Endocrinol Metab 2003;88: 4336-4341.
13. Bastepe M, Jüppner H: Pseudohypoparathyroidism: new insights into an old disease. Endocrinol Metab Clin North Am 2000;29:569-589.
14. Jan De Beur SM, O'Connell JR, Peila R, Cho J, Deng Z, Kam S, Levine MA: The pseudohypoparathyroidism type Ib locus is linked to a region including GNAS1 at 20q13.3. J Bone Miner Res 2003;18:424-433.
15. Liu J, Litman D, Rosenberg MJ, Yu S, Biesecker LG, Weinstein LS: A GNAS1 imprinting defect in pseudohypoparathyroidism type Ib. J Clin Invest 2000;106: 1167-1174.
16. Bastepe M, Fröhlich LE, Hendy GN, Indridason OS, Josse RG, Koshiyama H, Korkko J, Nakamoto JM, Rosenbloom AL, Slyper AH, Sugimoto T, Tsatsoulis A, Crawford JD, Jüppner H: 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;112: 1255-1263.
17. Levine MA: Parathyroid hormone resistance syndromes; in Favus MJ (ed): Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, ed 4. Philadelphia, Lippincott Williams & Wilkins, 1999, pp 230-235.
18. s subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc Natl Acad Sci USA 1990;87:8287-8290.
19. Miric A, Vechio JD, Levine MA: Heterogeneous mutations in the gene encoding the subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy. J Clin Endocrinol Metab 1993;76:1560-1568.
20. Breslau NA, Notman DD, Canterbury JM, Moses AM: Studies on the attainment of normocalcemia in patients with pseudohypoparathyroidism. Am J Med 1980;68:856-860.
21. s subunit within different segments of the nephron. Am J Physiol 2000;278:F507-F514.
22. Stone MD, Hosking DJ, Garcia-Himmelstine C, White DA, Rosenblum D, Worth HG: The renal response to exogenous parathyroid hormone in treated pseudohypoparathyroidism. Bone 1993;14:727-735.
23. Bourdeau JE, Burg MB: Effect of PTH on calcium transport across the cortical thick ascending limb of Henle's loop. Am J Physiol 1980;239:F121-F126.
24. Weisman Y, Golander A, Spirer Z, Farfel Z: Pseudohypoparathyroidism type Ia presenting as congenital hypothyroidism. J Pediatr 1985;107:413-415.
25. Levine MA, Jap TS, Hung W: Infantile hypothyroidism in two sibs: an unusual presentation of pseudohypoparathyroidism type Ia. J Pediatr 1985;107:919-922.
26. Namnoum AB, Merriam GR, Moses AM, Levine MA: Reproductive dysfunction in women with Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 1998;83:824-829.
27. Scott DC, Hung W: Pseudohypoparathyroidism type Ia and growth hormone deficiency in two siblings. J Pediatr Endocrinol Metab 1995;8:205-207.
28. Urdanivia E, Mataverde A, Cohen MP: Growth hormone secretion and sulfation factor activity in pseudohypoparathyroidism. J Lab Clin Med 1975;86:772-776.
29. Mantovani G, Maghnie M, Weber G, De Menis E, Brunelli V, Cappa M, Loli P, Beck-Peccoz P, Spada A: Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type Ia: new evidence for imprinting of the Gsα gene. J Clin Endocrinol Metab 2003;88:4070-4074.
30. Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, Levine MA: Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. J Clin Endocrinol Metab 2003;88:4059-4069.
31. Laspa E, Bastepe M, Jüppner H, Tsatsoulis A: Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance J Clin Endocrinol Metab 2004;89:5942-5947.