Reproductive dysfunction in women with Albright's hereditary osteodystrophy

Journal of Clinical Endocrinology and Metabolism

Volumn 83, Issue 3, 1998, Pages 824-829

  Namnoum, Anne B ^a   Merriam, George R ^b   Moses, Arnold M ^c   Levine, Michael A ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c University Hospital   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CONJUGATED ESTROGEN; ESTRADIOL; FOLLITROPIN; GONADORELIN; GUANINE NUCLEOTIDE BINDING PROTEIN; LUTEINIZING HORMONE; MEDROXYPROGESTERONE; MESSENGER RNA; PROGESTERONE;

ADOLESCENT; ADULT; ALBRIGHT SYNDROME; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FEMALE FERTILITY; HUMAN; HYPOGONADISM; HYPOTHALAMUS HYPOPHYSIS GONAD SYSTEM; MENSTRUAL CYCLE; MENSTRUATION DISORDER; OVARY DISEASE; PRIORITY JOURNAL; REPRODUCTION;

ADOLESCENT; ADULT; FEMALE; FIBROUS DYSPLASIA, POLYOSTOTIC; FOLLICLE STIMULATING HORMONE; GONADOTROPIN-RELEASING HORMONE; GTP-BINDING PROTEINS; HORMONES; HUMANS; LUTEINIZING HORMONE; MEDICAL RECORDS; OVARY; PSEUDOHYPOPARATHYROIDISM; PULSATILE FLOW; REPRODUCTION; RNA, MESSENGER;

FALLOPIA;

EID: 0031732659     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.83.3.824     Document Type: Article

References (34)

1. Albright F, Burnett CH, Smith PH. 1942 Pseudohypoparathyroidism: an example of "Seabright-Bantam syndrome". Endocrinology 30:922-932.
2. Farfel Z, Brickman AS, Kaslow HR, Brothers VM, Bourne HR. 1980 Defect of receptor-cyclase coupling protein in pseudohypoparathyroidism. N Engl J Med. 303:237-242.
3. Levine MA, Downs Jr RW, Singer Jr MJ, Marx SJ, Aurbach GD, Spiegel AM. 1980 Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism. Biochem Biophys Res Commun. 94:1319-1324.
4. Levine MA, Downs Jr RW, Moses AM, et al. 1983 Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein. Am J Med. 74:545-556.
5. Albright F, Forbes AP, Henneman PH. 1952 Pseudopseudohypoparathyroidism. Trans Assoc Am Physicians. 65:337-350.
6. Halal F, Van Dop C, Lord J. 1985 Differential diagnosis in young women with oligmenorrhea and the pseudo-pseudohypoparathyroidism variant of Albright's hereditary osteodystrophy. Am J Med Genet. 21:551-568.
7. Wolfsdorf JI, Rosenfield RL, Fang VS, et al. 1978 Partial gonadotrophin-resistance in pseudohypoparathyroidism. Acta Endocrinol. 88:321-328.
8. Faull CM, Welbury RR, Paul B, Kendall Taylor P. 1991 Pseudohypoparathyroidism: its phenotypic variability and associated disorders in a large family. Q J Med. 78:251-264.
9. Brody SA, McAtee NM, Wachter KW, Merriam GR, Loriaux DL. 1982 The progression of 24-hour plasma gonadotropin patterns in the normal menstrual cycle: a longitudinal study. Clin Res. 39:684 (Abstract).
10. Merriam GR, Wachter KW. 1982 Algorithms for the study of episodic hormone secretion. Am J Physiol. 243:E310-318.
11. Levine MA, Eil C, Downs RW, Jr, Spiegel AM. 1983 Deficient guanine nucleotide regulatory unit activity in cultured fibroblast membranes from patients with pseudohypoparathyroidism type I. A cause of impaired synthesis of 3′:5′-cyclic AMP by intact and broken cells. J Clin Invest. 72:316-324.
12. Harris BA, Robishaw JD, Mumby SM, Gilman AG. 1985 Molecular cloning of complementary DNA for the alpha subunit of the G protein that stimulates adenylate cyclase. Science. 229:1274-1277.
13. Levine MA, Jap TS, Mauseth RS, Downs RW, Spiegel AM. 1986 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. 62:497-502.
14. Chirgwin JM, Przybyla AE, MacDonald RJ, Rutter WJ. 1979 Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry. 18:5294-5299.
15. Kawasaki ES. 1990 Amplification of RNA. In: Innis MA, Gelfand DH, Sninsky JJ, White TJ, eds. PCR protocols: a guide to methods and applications. San Diego: Academic Press; p 21-17.
16. Saiki RK, Gelfand DH, Stoffel S, et al. 1988 Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science. 239:487-491.
17. Miric A, Vechio JD, Levine MA. 1993 Heterogeneous mutations in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy. J Clin Endocrinol Metab. 76:1560-1568.
18. Miric A, Levine MA. 1992 Analysis of the preproPTH gene by denaturing gradient gel electrophoresis in familial isolated hypoparathyroidism. J Clin Endocrinol Metab. 74:509-516.
19. Zhu X, Gilbert S, Birnbaumer M, Birnbaumer L. 1994 Dual signaling potential is common among Gs-coupled receptors and dependent on receptor density. Mol Pharmacol. 46:460-469.
20. Gudermann T, Birnbaumer M, Birnbaumer L. 1992 Evidence for dual coupling of the murine luteinizing hormone receptor to adenylyl cyclase and phosphoinositide breakdown and Ca2+ mobilization. Studies with the cloned murine luteinizing hormone receptor expressed in L cells. J Biol Chem. 267:4479-4488.
21. Gudermann T, Nichols C, Levy FO, Birnbaumer M, Birnbaumer L. 1992 Ca2+ mobilization by the LH receptor expressed in Xenopus oocytes independent of 3′,5′-cyclic adenosine monophosphate formation: evidence for parallel activation of two signaling pathways. Mol Endocrinol. 6:272-278.
22. Schwindinger WF, Francomano CA, Levine MA. 1992 Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci USA. 89:5152-5156.
23. Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM. 1991 Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med. 325:1688-1695.
24. Shenker A, Weinstein LS, Moran A, et al. 1993 Severe endocrine and non-endocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS. J Pediatr. 123:509-518.
25. Iiri T, Herzmark P, Nakamoto JM, Van Dop C, Bourne HR. 1994 Rapid GDP release from Gsα in patients with gain and loss of function. Nature 371:164-168.
26. Levine MA, Ahn TG, Klupt SF, et al. 1988 Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy. Proc Natl Acad Sci USA. 85:617-621.
27. Wilson LC, Oude Luttikhuis ME, Clayton PT, Fraser WD, Trembath RC. 1994 Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy. J Med Genet. 31:835-839.
28. Davies SJ, Hughes HE. 1993 Imprinting in Albright's hereditary osteodystrophy. J Med Genet. 30:101-103.
29. Wilson LC, Trembath RC. 1994 Albright's hereditary osteodystrophy. (Review). J Med Genet. 31:779-784.
30. Levine MA, Modi WS, O'Brien SJ. 1991 Mapping of the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2→q13.3 in human by in situ hybridization. Genomics. 11:478-479.
31. Cattanach BM, Kirk M. 1985 Differential activity of maternally and paternally derived chromosome regions in mice. Nature. 315:496-498.
32. Cattanach BM, Beechey CV. 1990 Autosomal and X-chromosome imprinting. Development Suppl:63-72.
33. Williamson CM, Schofield J, Dutton ER, et al. 1996 Glomerular-specific imprinting of the mouse Gsa gene: How does this relate to hormone resistance in Albright hereditary osteodystrophy? Genomics. 36:280-287.
34. Campbell R, Gosden CM, Bonthron DT. 1994 Parental origin of transcription from the human GNAS1 gene. J Med Genet. 31:607-614.