Primary adrenal insufficiency in children: Twenty years experience at the Sainte-Justine Hospital, Montreal

Journal of Clinical Endocrinology and Metabolism

Volumn 90, Issue 6, 2005, Pages 3243-3250

  Perry, Rebecca ^b   Kecha, Oufae ^b   Paquette, Jean ^b   Huot, Celine ^b   Van Vliet, Guy ^b   Deal, Cheri ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADRENAL INSUFFICIENCY; ADULT; ARTICLE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; CANADA; CHEMICAL ANALYSIS; CHILD; CHILDHOOD DISEASE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; DISEASE COURSE; FEMALE; GENE TARGETING; GENETIC ALGORITHM; GENETIC ANALYSIS; HEALTH CENTER; HOSPITAL; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; MALE; POPULATION RESEARCH; PRIORITY JOURNAL; REGISTER; SCREENING; SEX RATIO; CLASSIFICATION; GENETICS; PATHOPHYSIOLOGY; PRESCHOOL CHILD; RETROSPECTIVE STUDY;

ADRENAL INSUFFICIENCY; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; MALE; QUEBEC; RETROSPECTIVE STUDIES;

EID: 21244480582     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-0016     Document Type: Article

References (45)

1. Ten S, New M, Maclaren N 2001 Clinical review 130: Addison's disease 2001. J Clin Endocrinol Metab 86:2909-2922
2. Clark AJ, McLoughlin L, Grossman A 1993 Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. Lancet 341:461-462
3. Tsigos C, Arai K, Hung W, Chrousos GP 1993 Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. J Clin Invest 92:2458-2461
4. Weber A, Toppari J, Harvey RD, Klann RC, Shaw NJ, Ricker AT, Nanto-Salonen K, Bevan JS, Clark AJ 1995 Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families. J Clin Endocrinol Metab 80:65-71
5. Peter M, Viemann M, Partsch CJ, Sippell WG 1998 Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene. J Clin Endocrinol Metab 83:2666-2674
6. Ward L, Paquette J, Seidman E, Huot C, Alvarez F, Crock P, Delvin E, Kampe O, Deal C 1999 Severe autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in an adolescent girl with a novel AIRE mutation: response to immunosuppressive therapy. J Clin Endocrinol Metab 84:844-852
7. Tullio-Pelet A, Salomon R, Hadj-Rabia S, Mugnier C, de Laet MH, Chaouachi B, Bakiri F, Brottier P, Cattolico L, Penet C, Begeot M, Naville D, Nicolino M, Chaussain JL, Weissenbach J, Munnich A, Lyonnet S 2000 Mutant WD-repeat protein in triple-A syndrome. Nat Genet 26:332-335
8. Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, Huebner A 2001 Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet 10:283-290
9. Catellier P, Pacaud D, Van Vliet G 1994 Acute stress markedly increases plasma 17-OH progesterone (17-OHP) in infants born at term and aged 0.5 to 7.6 months : a pitfall in the diagnosis of congenital adrenal hyperplasia (CAH). Pediatr Res 35:96A (Abstract).
10. New MI, Lorenzen F, Lerner AJ, Kohn B, Oberfield SE, Pollack MS, Dupont B, Stoner E, Levy DJ, Pang S, Levine LS 1983 Genotyping steroid 21-hydroxylase deficiency: hormonal reference data. J Clin Endocrinol Metab 57:320-326
11. Ekwall O, Hedstrand H, Grimelius L, Haavik J, Perheentupa J, Gustafsson J, Husebye E, Kämpe O, Rorsman F 1998 Identification of tryptophan hydroxylase as an intestinal autoantigen. Lancet 352:279-283
12. Zhang YH, Huang BL, Anyane-Yeboa K, Carvalho JA, Clemons RD, Cole T, De Figueiredo BC, Lubinsky M, Metzger DL, Quadrelli R, Repaske DR, Reyno S, Seaver LH, Vaglio A, Van Vliet G, McCabe LL, McCabe ER, Phelan JK 2001 Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita. Hum Mutat 18:547
13. Alos N, Moisan AM, Ward L, Desrochers M, Legault L, Leboeuf G, Van Vliet G, Simard J 2000 A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3β-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty. J Clin Endocrinol Metab 85:1968-1974
14. http://www.meq.gouv.qc.ca 2002 Indicateurs de l'éducation
15. Mandel H, Korman SH 2003 Phenotypic variability (heterogeneity) of peroxisomal disorders. Adv Exp Med Biol 544:9-30
16. Soderbergh A, Rorsman F, Halonen M, Ekwall O, Björses P, Kämpe O, Husebye ES 2000 Autoantibodies against aromatic L-amino acid decarboxylase identifies a subgroup of patients with Addison's disease. J Clin Endocrinol Metab 85:460-463
17. Kovacs J, Votava F, Heinze G, Solyom J, Lebl J, Pribilincova Z, Frisch H, Battelino T, Waldhauser F; Middle European Workshop on Paediatric Endocrinology-Congenital Adrenal Hyperplasia Study Group 2001 Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five middle European countries. J Clin Endocrinol Metab 86:2958- 2964.
18. Poitras L, Charest J, Froissard S, Beauchamp C 2001 The levels of care at Sainte-Justine Hospital: a comparative provincial analysis. Report from the Department of Professional Services. Montreal: Sainte-Justine Hospital; 25-30
19. Pang SC 1993 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: newborn screening and its relationship to the diagnosis and treatment of the disorder. Screening 2:105-139
20. Van Vliet G, Czernichow P 2004 Screening for neonatal endocrinopathies: rationale, methods and results. Semin Neonatol 9:75-85
21. Joint LWPES/ESPE CAH Working Group 2002 Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. J Clin Endocrinol Metab 87:4048-4053
22. Challis JRG, Matthews SG, Gibb W, Lye SJ 2000 Endocrine and paracrine regulation of birth at term and preterm. Endocr Rev 21:514-550
23. Donaldson MD, Thomas PH, Love JG, Murray GD, McNinch AW, Savage DC 1994 Presentation, acute illness, and learning difficulties in salt wasting 21-hydroxylase deficiency. Arch Dis Child 70:214-218
24. Uibo R, Aavik E, Peterson P, Perheentupa J, Aranko S, Pelkonen R, Krohn KJ 1994 Autoantibodies to cytochrome P450 enzymes P450scc, P450c17, and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison's disease. J Clin Endocrinol Metab 78:323-328
25. Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJ, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa S, Ito F, Shimizu N 1997 Positional cloning of the APECED gene. Nat Genet 17:393-398
26. Kumar PG, Laloraya M, She JX 2002 Population genetics and functions of the autoimmune regulator (AIRE). Endocrinol Metab Clin North Am 31:321-338, vi
27. Perheentupa J 2002 APS-I/APECED: the clinical disease and therapy. Endocrinol Metab Clin North Am 31:295-320, vi
28. Bjorses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I, Peltonen L 2000 Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. Am J Hum Genet 66:378-392
29. Meloni A, Perniola R, Faa V, Corvaglia E, Cao A, Rosatelli MC 2002 Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy. J Clin Endocrinol Metab 87:841-846
30. Lachtermacher MB, Seuanez HN, Moser AB, Moser HW, Smith KD 2000 Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described. Hum Mutat 15:348-353
31. Korenke GC, Roth C, Krasemann E, Hufner M, Hunneman DH, Hanefeld F 1997 Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings. Eur J Endocrinol 137:40-47
32. Gartner J 2000 Organelle disease: peroxisomal disorders. Eur J Pediatr 159(Suppl 3):S236-S239
33. Wolman M 1995 Wolman disease and its treatment. Clin Pediatr (Phila) 34:207-212
34. Iavarone A, Dolfin G, Bracco G, Zaffaroni M, Gallina MR, Bona G 1989 First trimester prenatal diagnosis of Wolman disease. J Inherit Metab Dis 12(Suppl 2):299-300
35. Anderson RA, Byrum RS, Coates PM, Sando GN 1994 Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. Proc Natl Acad Sci USA 91:2718-2722
36. Tietge UJ, Sun G, Czarnecki S, Yu Q, Lohse P, Du H, Grabowski GA, Glick JM, Rader DJ 2001 Phenotypic correction of lipid storage and growth arrest in wolman disease fibroblasts by gene transfer of lysosomal acid lipase. Hum Gene Ther 12:279-289
37. Laverty CR, Fortune DW, Beischer NA 1973 Congenital idiopathic adrenal hypoplasia. Obstet Gynecol 41:655-664
38. Achermann JC, Ito M, Ito M, Hindmarsh PC, Jameson JL 1999 A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet 22:125-126
39. Vilain E, Le Merrer M, Lecointre C, Desangles F, Kay MA, Maroteaux P, McCabe ER 1999 IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. J Clin Endocrinol Metab 84:4335-4340
40. Andersson HC, Frentz J, Martinez JE, Tuck-Muller CM, Bellizaire J 1999 Adrenal insufficiency in Smith-Lemli-Opitz syndrome. Am J Med Genet 82:382-384
41. Nowaczyk MJ, Siu VM, Krakowiak PA, Porter FD 2001 Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome. Am J Med Genet 103:223-225
42. Fluck CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonca BB, Fujieda K, Miller WL, Fluck CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonca BB, Fujieda K, Miller WL 2004 Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet 36:228-230
43. Arlt W, Walker EA, Draper N, Ivison HE, Ride JP, Hammer F, Chalder SM, Borucka-Mankiewicz M, Hauffa BP, Malunowicz EM, Stewart PM, Shackleton CH 2004 Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. Lancet 363:2128-2135
44. Metherell LA, Chapple JP, Cooray S, David A, Becker C, Ruschendorf F, Naville D, Begeot M, Khoo B, Nurnberg P, Huebner A, Cheetham ME, Clark AJ 2005 Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet 37:166-170
45. Forest MG, Cathiard AM 1978 Ontogenic study of plasma 17α-hydroxyprogesterone in the human. I. Postnatal period: evidence for a transient ovarian activity in infancy. Pediatr Res 12:6-11