Normal cortisol response to high-dose synacthen and insulin tolerance test in children and adults with Prader-Willi syndrome

Journal of Clinical Endocrinology and Metabolism

Volumn 96, Issue 1, 2011, Pages

  Farholt, Stense ^a   Sode Carlsen, Rasmus ^a   Christiansen, Jens Sandahl ^a   Østergaard, John R ^a   Høybye, Charlotte ^b  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

AMOXICILLIN; CLAVULANIC ACID; HYDROCORTISONE; METHYLPREDNISOLONE; MONTELUKAST; SALBUTAMOL; TERBUTALINE; TETRACOSACTIDE;

ADOLESCENT; ADULT; ARTICLE; ASTHMA; BACTERIAL INFECTION; CHILD; DENMARK; FEMALE; GENETIC ANALYSIS; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYPOTHALAMUS HYPOPHYSIS ADRENAL SYSTEM; INFANT; INSULIN TOLERANCE TEST; MAJOR CLINICAL STUDY; MALE; PEDIATRICS; PRADER WILLI SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SWEDEN; TREATMENT RESPONSE; UNIVERSITY HOSPITAL;

EID: 78650865204     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2010-0782     Document Type: Article

References (40)

1. Höybye C 2004 Endocrine and metabolic aspects of adult Prader-Willi syndrome with special emphasis on the effect of growth hormone treatment. Growth Horm IGF Res 14:1-15
2. Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F 1993 Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 91:398-402
3. Cassidy SB, Driscoll DJ 2009 Prader-Willi syndrome. Eur J Hum Genet 17:3-13
4. Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M 2008 Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab 93:4183-4197
5. Swaab DF, Purba JS, Hofman MA 1995 Alterations in the hypothalamic paraventricular nucleus and its oxytocin neurons (putative satiety cells) in Prader-Willi syndrome: a study of five cases. J Clin Endocrinol Metab 80:573-579
6. Rudd BT, Chance GW, Theodoridis CG 1969 Adrenal response to ACTH in patients with Prader-Willi syndrome, simple obesity, and constitutional dwarfism. Arch Dis Child 44:244-247
7. Stevenson DA, Anaya TM, Clayton-Smith J, Hall BD, Van Allen MI, Zori RT, Zackai EH, Frank G, Clericuzio CL 2004 Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals. Am J Med Genet A 124A:158-164
8. de Lind van Wijngaarden RF, Otten BJ, Festen DA, Joosten KF, de Jong FH, Sweep FC, Hokken-Koelega AC 2008 High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome. J Clin Endocrinol Metab 93:1649-1654
9. Nysom K, Mølgaard C, Hutchings B, Michaelsen KF 2001 Body mass index of 0 to 45-y-old Danes: reference values and comparison with published European reference values. Int J Obes Relat Metab Disord 25:177-184
10. Frystyk J, Dinesen B, Orskov H 1995 Non-competitive time-resolved immunofluorometric assays for determination of human insulin-like growth factor I and II. Growth Regul 5:169-176
11. Höybye C, Hilding A, Jacobsson H, Thorén M 2002 Metabolic profile and body composition in adults with Prader-Willi syndrome and severe obesity. J Clin Endocrinol Metab 87:3590-3597
12. Sode-Carlsen R, Farholt S, Rabben KF, Bollerslev J, Schreiner T, Jurik AG, Christiansen JS, Höybye C 2010 Body composition, endocrine and metabolic profiles in adults with Prader-Willi syndrome. Growth Horm IGF Res 20:179-184
13. Brandau DT, Theodoro M, Garg U, Butler MG 2008 Follicle stimulating and luteinizing hormones, estradiol and testosterone in Prader-Willi syndrome. Am J Med Genet A 146A:665-669
14. Eldar-Geva T, Hirsch HJ, Rabinowitz R, Benarroch F, Rubinstein O, Gross-Tsur V 2009 Primary ovarian dysfunction contributes to the hypogonadism in women with Prader-Willi Syndrome. Horm Res 72:153-159
15. Hirsch HJ, Eldar-Geva T, Benarroch F, Rubinstein O, Gross-Tsur V 2009 Primary testicular dysfunction is a major contributor to abnormal pubertal development in males with Prader-Willi syndrome. J Clin Endocrinol Metab 94:2262-2268
16. Butler MG, Theodoro M, Skouse JD 2007 Thyroid function studies in Prader-Willi syndrome. Am J Med Genet A 143:488-492
17. Whittington JE, Holland AJ, Webb T, Butler J, Clarke D, Boer H 2001 Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one U.K. Health Region. J Med Genet 38:792-798
18. Tauber M, Diene G, Molinas C, Hébert M 2008 Review of 64 cases of death in children with Prader-Willi syndrome (PWS). Am J Med Genet A 146:881-887
19. Schrander-Stumpel CT, Curfs LM, Sastrowijoto P, Cassidy SB, Schrander JJ, Fryns JP 2004 Prader-Willi syndrome: causes of death in an international series of 27 cases. Am J Med Genet A 124A: 333-338
20. Wallace I, Cunningham S, Lindsay J 2009 The diagnosis and investigation of adrenal insufficiency in adults. Ann Clin Biochem 46:351-367
21. Courtney CH, McAllister AS, McCance DR, Hadden DR, Leslie H, Sheridan B, Atkinson AB 2000 The insulin hypoglycaemia and overnight metyrapone tests in the assessment of the hypothalamic-pituitary- adrenal axis following pituitary surgery. Clin Endocrinol (Oxf) 53:309-312
22. Steiner H, Bähr V, Exner P, Oelkers PW 1994 Pituitary function tests: comparison of ACTH and 11-deoxy-cortisol responses in the metyrapone test and with the insulin hypoglycemia test. Exp Clin Endocrinol 102:33-38
23. Soule S, Van Zyl SC, Parolis G, Attenborough S, Peter D, Kinvig S, Kinvig T, Coetzer E 2000 The low dose ACTH stimulation test is less sensitive than the overnight metyrapone test for the diagnosis of secondary hypoadrenalism. Clin Endocrinol (Oxf) 53:221-227 (Pubitemid 30643457)
24. Suliman AM, Smith TP, Labib M, Fiad TM, McKenna TJ 2002 The low-dose ACTH test does not provide a useful assessment of the hypothalamic-pituitary-adrenal axis in secondary adrenal insufficiency. Clin Endocrinol (Oxf) 56:533-539
25. Rose SR, Lustig RH, Burstein S, Pitukcheewanont P, Broome DC, Burghen GA 1999 Diagnosis of ACTH deficiency. Comparison of overnight metyrapone test to either low-dose or high-dose ACTH test. Horm Res 52:73-79
26. Butler MG, Brandau DT, Theodoro M, Garg U 2009 Cortisol levels in Prader-Willi syndrome support changes in routine care. Am J Med Genet A 149A:138-139
27. Agha A, Tomlinson JW, Clark PM, Holder G, Stewart PM 2006 The long-term predictive accuracy of the short synacthen (corticotropin) stimulation test for assessment of the hypothalamic-pituitary-adrenal axis. J Clin Endocrinol Metab 91:43-47
28. Stewart PM, Corrie J, Seckl JR, Edwards CR, Padfield PL 1988 A rational approach for assessing the hypothalamo-pituitary-adrenal axis. Lancet 1:1208-1210
29. Dorin RI, Qualls CR, Crapo LM 2003 Diagnosis of adrenal insufficiency. Ann Intern Med 139:194-204
30. Bangar V, Clayton RN 1998 How reliable is the short synacthen test for the investigation of the hypothalamic-pituitary-adrenal axis? Eur J Endocrinol 139:580-583
31. Oelkers W 1996 Adrenal insufficiency. N Engl J Med 335:1206-1212
32. Deutschbein T, Unger N, Mann K, Petersenn S 2009 Diagnosis of secondary adrenal insufficiency in patients with hypothalamic-pituitary disease: comparison between serum and salivary cortisol during the high-dose short synacthen test. Eur J Endocrinol 160:9-16
33. Streeten DH, Anderson Jr GH, Bonaventura MM 1996 The potential for serious consequences from misinterpreting normal responses to the rapid adrenocorticotropin test. J Clin Endocrinol Metab 81: 285-290
34. Qureshi AC, Bahri A, Breen LA, Barnes SC, Powrie JK, Thomas SM, Carroll PV 2007 The influence of the route of oestrogen administration on serum levels of cortisol-binding globulin and total cortisol. Clin Endocrinol (Oxf) 66:632-635
35. Agha A, Monson JP 2007 Modulation of glucocorticoid metabolism by the growth hormone-IGF-1 axis. Clin Endocrinol (Oxf) 66:459-465
36. Tomlinson JW, Crabtree N, Clark PM, Holder G, Toogood AA, Shackleton CH, Stewart PM 2003 Low-dose growth hormone inhibits 11β-hydroxysteroid dehydrogenase type 1 but has no effect upon fat mass in patients with simple obesity. J Clin Endocrinol Metab 88:2113-2118
37. Giavoli C, Libé R, Corbetta S, Ferrante E, Lania A, Arosio M, Spada A, Beck-Peccoz P 2004 Effect of recombinant human growth hormone (GH) replacement on the hypothalamic-pituitary-adrenal axis in adult GH-deficient patients. J Clin Endocrinol Metab 89:5397-5401
38. Giavoli C, Bergamaschi S, Ferrante E, Ronchi CL, Lania AG, Rusconi R, Spada A, Beck-Peccoz P 2008 Effect of growth hormone deficiency and recombinant hGH (rhGH) replacement on the hypothalamic-pituitary-adrenal axis in children with idiopathic isolated GH deficiency. Clin Endocrinol (Oxf) 68:247-251
39. Goldstone AP, Thomas EL, Brynes AE, Bell JD, Frost G, Saeed N, Hajnal JV, Howard JK, Holland A, Bloom SR 2001 Visceral adipose tissue and metabolic complications of obesity are reduced in Prader-Willi syndrome female adults: evidence for novel influences on body fat distribution. J Clin Endocrinol Metab 86:4330-4338
40. L'Allemand D, Eiholzer U, Rousson V, Girard J, Blum W, Torresani T, Gasser T 2002 Increased adrenal androgen levels in patients with Prader-Willi syndrome are associated with insulin, IGF-I, and leptin, but not with measures of obesity. Horm Res 58:215-222