Syndromes associated with abnormalities in the adrenal cortex

Diagnostic Histopathology

Volumn 15, Issue 2, 2009, Pages 69-78

  Hunt, Jennifer L ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

adrenal cortex; Beckwith Weidemann; congenital adrenal hyperplasia; congenital adrenal hypoplasia; Li Fraumeni; McCune Albright; MEN 1; syndrome; X linked adrenoleucodystrophy

Indexed keywords

ADRENAL CALCIFICATION; ADRENAL CORTEX DISEASE; ADRENAL CORTEX TUMOR; ADRENAL INSUFFICIENCY; ADRENOLEUKODYSTROPHY; ALBRIGHT SYNDROME; ALLGROVE SYNDROME; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CALCIFICATION; CARNEY COMPLEX; CHILDHOOD ADRENOLEUKODYSTROPHY; CLINICAL FEATURE; CONGENITAL ADRENAL HYPERPLASIA; CUSHING SYNDROME; FAMILIAL CANCER; GENETIC LINKAGE; GLUCOCORTICOSTEROID DEFICIENCY; HISTOPATHOLOGY; HORMONE DEFICIENCY; HUMAN; MULTIPLE ENDOCRINE NEOPLASIA; SYMPTOM; WOLMAN DISEASE;

EID: 61649123031     PISSN: 17562317     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mpdhp.2009.01.004     Document Type: Article

References (76)

1. Vaughan W.G., Sanders D.W., Grosfeld J.L., et al. Favorable outcome in children with Beckwith-Wiedemann syndrome and intraabdominal malignant tumors. J Pediatr Surg 30 (1995) 1042-1044 discussion 4-5
2. Wiedemann H.R. Familial malformation complex with umbilical hernia and macroglossia - a "new syndrome"?. J Genet Hum 13 (1964) 223-232
3. Cohen Jr. M.M. Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives. Pediatr Dev Pathol 8 (2005) 287-304
4. Wiedemann H.R. Frequency of Wiedemann-Beckwith syndrome in Germany; rate of hemihyperplasia and of tumours in affected children. Eur J Pediatr 156 (1997) 251
5. Alsultan A., Lovell M.A., Hayes K.L., Allshouse M.J., and Garrington T.P. Simultaneous occurrence of right adrenocortical tumor and left adrenal neuroblastoma in an infant with Beckwith-Wiedemann syndrome. Pediatr Blood Cancer 51 (2008) 695-698
6. Rump P., Zeegers M.P., and van Essen A.J. Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis. Am J Med Genet A 136 (2005) 95-104
7. Yoshimizu T., Miroglio A., Ripoche M.A., et al. The H19 locus acts in vivo as a tumor suppressor. Proc Natl Acad Sci U S A 105 (2008) 12417-12422
8. Herrmann M.E., Mileusnic D., Jorden M., and Kalelkar M.B. Sudden death in an 8-week-old infant with Beckwith-Wiedemann syndrome. Am J Forensic Med Pathol 21 (2000) 276-280
9. Lage J.M. Placentomegaly with massive hydrops of placental stem villi, diploid DNA content, and fetal omphaloceles: possible association with Beckwith-Wiedemann syndrome. Hum Pathol 22 (1991) 591-597
10. H'Mida D., Gribaa M., Yacoubi T., et al. Placental mesenchymal dysplasia with Beckwith-Wiedemann syndrome fetus in the context of biparental and androgenic cell lines. Placenta 29 (2008) 454-460
11. Robinson W.P., Slee J., Smith N., et al. Placental mesenchymal dysplasia associated with fetal overgrowth and mosaic deletion of the maternal copy of 11p15.5. Am J Med Genet A 143A (2007) 1752-1759
12. Parveen Z., Tongson-Ignacio J.E., Fraser C.R., Killeen J.L., and Thompson K.S. Placental mesenchymal dysplasia. Arch Pathol Lab Med 131 (2007) 131-137
13. Izbizky G., Elias D., Gallo A., Farias P., and Sod R. Prenatal diagnosis of fetal bilateral adrenal carcinoma. Ultrasound Obstet Gynecol 26 (2005) 669-671
14. Merrot T., Walz J., Anastasescu R., Chaumoitre K., and D'Ercole C. Prenatally detected cystic adrenal mass associated with Beckwith-Wiedemann syndrome. Fetal Diagn Ther 19 (2004) 465-469
15. Drut R.M., Drut R., Gilbert-Barness E., and Sotelo-Avila C. Adrenal hyperplastic nodules in Wiedemann-Beckwith syndrome. Birth Defects Orig Artic Ser 29 (1993) 367-372
16. Clouston W.M., Cannell G.C., Fryar B.G., et al. Virilizing adrenal adenoma in an adult with the Beckwith-Wiedemann syndrome: paradoxical response to dexamethasone. Clin Endocrinol (Oxf) 31 (1989) 467-473
17. Sbragia-Neto L., Melo-Filho A.A., Guerra-Junior G., et al. Beckwith-Wiedemann syndrome and virilizing cortical adrenal tumor in a child. J Pediatr Surg 35 (2000) 1269-1271
18. Iwakuma T., Lozano G., and Flores E.R. Li-Fraumeni syndrome: a p53 family affair. Cell Cycle 4 (2005) 865-867
19. Varley J.M. Germline TP53 mutations and Li-Fraumeni syndrome. Hum Mutat 21 (2003) 313-320
20. Soon P.S., McDonald K.L., Robinson B.G., and Sidhu S.B. Molecular markers and the pathogenesis of adrenocortical cancer. Oncologist 13 (2008) 548-561
21. Wagner J., Portwine C., Rabin K., et al. High frequency of germline p53 mutations in childhood adrenocortical cancer. J Natl Cancer Inst 86 (1994) 1707-1710
22. Strahm B., and Malkin D. Hereditary cancer predisposition in children: genetic basis and clinical implications. Int J Cancer 119 (2006) 2001-2006
23. Varley J. TP53, hChk2, and the Li-Fraumeni syndrome. Methods Mol Biol 222 (2003) 117-129
24. McNicol A.M. Lesions of the adrenal cortex. Arch Pathol Lab Med 132 (2008) 1263-1271
25. Allolio B., and Fassnacht M. Clinical review: Adrenocortical carcinoma: clinical update. J Clin Endocrinol Metab 91 (2006) 2027-2037
26. Carney J.A., Gordon H., Carpenter P.C., Shenoy B.V., and Go V.L. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore) 64 (1985) 270-283
27. Boikos S.A., and Stratakis C.A. Carney complex: the first 20 years. Curr Opin Oncol 19 (2007) 24-29
28. Stratakis C.A., and Ball D.W. A concise genetic and clinical guide to multiple endocrine neoplasias and related syndromes. J Pediatr Endocrinol Metab 13 (2000) 457-465
29. Stratakis C.A. Genetics of adrenocortical tumors: Carney complex. Ann Endocrinol (Paris) 62 (2001) 180-184
30. Lacroix A., and Bourdeau I. Bilateral adrenal Cushing's syndrome: macronodular adrenal hyperplasia and primary pigmented nodular adrenocortical disease. Endocrinol Metab Clin North Am 34 (2005) 441-458 x
31. Claessens N., Heymans O., Arrese J.E., et al. Cutaneous psammomatous melanotic schwannoma: non-recurrence with surgical excision. Am J Clin Dermatol 4 (2003) 799-802
32. Jayasena S.N., Ariyasinghe J.T., Gunawardena D.M., Gunawardena S.A., and de Silva M.V. Large-cell calcifying sertoli cell tumour of the testis detected at screening of a family with Carney syndrome. Urol Int 75 (2005) 365-367
33. Stratakis C.A., Kirschner L.S., and Carney J.A. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab 86 (2001) 4041-4046
34. Stergiopoulos S.G., and Stratakis C.A. Human tumors associated with Carney complex and germline PRKAR1A mutations: a protein kinase A disease!. FEBS Lett 546 (2003) 59-64
35. Cazabat L., Ragazzon B., Groussin L., and Bertherat J. PRKAR1A mutations in primary pigmented nodular adrenocortical disease. Pituitary 9 (2006) 211-219
36. Stratakis C.A. Clinical genetics of multiple endocrine neoplasias, Carney complex and related syndromes. J Endocrinol Invest 24 (2001) 370-383
37. Stratakis C.A. Adrenocortical tumors, primary pigmented adrenocortical disease (PPNAD)/Carney complex, and other bilateral hyperplasias: the NIH studies. Horm Metab Res 39 (2007) 467-473
38. Travis W.D., Tsokos M., Doppman J.L., et al. Primary pigmented nodular adrenocortical disease. A light and electron microscopic study of eight cases. Am J Surg Pathol 13 (1989) 921-930
39. Stratakis C.A. Cushing syndrome caused by adrenocortical tumors and hyperplasias (corticotropin-independent Cushing syndrome). Endocr Dev 13 (2008) 117-132
40. Zacharin M. The spectrum of McCune Albright syndrome. Pediatr Endocrinol Rev 4 Suppl. 4 (2007) 412-418
41. Libe R., and Bertherat J. Molecular genetics of adrenocortical tumours, from familial to sporadic diseases. Eur J Endocrinol 153 (2005) 477-487
42. Lietman S.A., Schwindinger W.F., and Levine M.A. Genetic and molecular aspects of McCune-Albright syndrome. Pediatr Endocrinol Rev 4 Suppl. 4 (2007) 380-385
43. Gicquel C., Bertherat J., Le Bouc Y., and Bertagna X. Pathogenesis of adrenocortical incidentalomas and genetic syndromes associated with adrenocortical neoplasms. Endocrinol Metab Clin North Am 29 (2000) 1-13 vii
44. Kirk J.M., Brain C.E., Carson D.J., Hyde J.C., and Grant D.B. Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome. J Pediatr 134 (1999) 789-792
45. Yoshimoto M., Nakayama M., Baba T., et al. A case of neonatal McCune-Albright syndrome with Cushing syndrome and hyperthyroidism. Acta Paediatr Scand 80 (1991) 984-987
46. Bertherat J., Groussin L., and Bertagna X. Mechanisms of disease: adrenocortical tumors -molecular advances and clinical perspectives. Nat Clin Pract Endocrinol Metab 2 (2006) 632-641
47. White M.L., and Doherty G.M. Multiple endocrine neoplasia. Surg Oncol Clin N Am 17 (2008) 439-459 x
48. Piecha G., Chudek J., and Wiecek A. Multiple endocrine neoplasia type 1. Eur J Intern Med 19 (2008) 99-103
49. Waldmann J., Bartsch D.K., Kann P.H., et al. Adrenal involvement in multiple endocrine neoplasia type 1: results of 7 years prospective screening. Langenbecks Arch Surg 392 (2007) 437-443
50. Vortmeyer A.O., Lubensky I.A., Skarulis M., et al. Multiple endocrine neoplasia type 1: atypical presentation, clinical course, and genetic analysis of multiple tumors. Mod Pathol 12 (1999) 919-924
51. Lemos M.C., and Thakker R.V. Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat 29 (2008) 22-32
52. Skogseid B., Rastad J., Gobl A., et al. Adrenal lesion in multiple endocrine neoplasia type 1. Surgery 118 (1995) 1077-1082
53. Spandri A., Cogliardi A., Maggi P., et al. Congenital adrenal hyperplasia. Arch Ital Urol Androl 76 (2004) 143-146
54. Fujieda K., and Tajima T. Molecular basis of adrenal insufficiency. Pediatr Res 57 (2005) 62R-69R
55. Speiser P.W., and White P.C. Congenital adrenal hyperplasia. N Engl J Med 349 (2003) 776-788
56. New M.I. An update of congenital adrenal hyperplasia. Ann N Y Acad Sci 1038 (2004) 14-43
57. Hughes I.A. Congenital adrenal hyperplasia: 21-hydroxylase deficiency in the newborn and during infancy. Semin Reprod Med 20 (2002) 229-242
58. Sasano H., Masuda T., Ojima M., Fukuchi S., and Sasano N. Congenital 17 alpha-hydroxylase deficiency: a clinicopathologic study. Hum Pathol 18 (1987) 1002-1007
59. Reincke M. Mutations in adrenocortical tumors. Horm Metab Res 30 (1998) 447-455
60. Merke D.P., Bornstein S.R., Braddock D., and Chrousos G.P. Adrenal lymphocytic infiltration and adrenocortical tumors in a patient with 21-hydroxylase deficiency. N Engl J Med 340 (1999) 1121-1122
61. Touitou Y., Lecomte P., Auzeby A., Bogdan A., and Besnier Y. Evidence of 11 beta-hydroxylase deficiency in a patient with cortical adrenal adenoma. Horm Metab Res 21 (1989) 272-274
62. Takayama K., Ohashi M., Haji M., et al. Adrenocortical tumor in a patient with untreated congenital adrenocortical hyperplasia owing to 21-hydroxylase deficiency: characterization of steroidogenic lesions. J Urol 140 (1988) 803-805
63. Merke D.P., and Bornstein S.R. Congenital adrenal hyperplasia. Lancet 365 (2005) 2125-2136
64. Allgrove J., Clayden G.S., Grant D.B., and Macaulay J.C. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet 1 (1978) 1284-1286
65. Cooray S.N., Chan L., Metherell L., Storr H., and Clark A.J. Adrenocorticotropin resistance syndromes. Endocr Dev 13 (2008) 99-116
66. Metherell L.A., Chan L.F., and Clark A.J. The genetics of ACTH resistance syndromes. Best Pract Res Clin Endocrinol Metab 20 (2006) 547-560
67. Stratakis C.A., and Bossis I. Genetics of the adrenal gland. Rev Endocr Metab Disord 5 (2004) 53-68
68. Ferraz-de-Souza B., and Achermann J.C. Disorders of adrenal development. Endocr Dev 13 (2008) 19-32
69. Wiltshire E., Couper J., Rodda C., Jameson J.L., and Achermann J.C. Variable presentation of X-linked adrenal hypoplasia congenita. J Pediatr Endocrinol Metab 14 (2001) 1093-1096
70. Binder G., Wollmann H., Schwarze C.P., et al. X-linked congenital adrenal hypoplasia: new mutations and long-term follow-up in three patients. Clin Endocrinol (Oxf) 53 (2000) 249-255
71. Moser H.W., Mahmood A., and Raymond G.V. X-linked adrenoleukodystrophy. Nat Clin Pract Neurol 3 (2007) 140-151
72. Berger J., and Gartner J. X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects. Biochim Biophys Acta 1763 (2006) 1721-1732
73. Moser H., Dubey P., and Fatemi A. Progress in X-linked adrenoleukodystrophy. Curr Opin Neurol 17 (2004) 263-269
74. Kim J.H., and Kim H.J. Childhood X-linked adrenoleukodystrophy: clinical-pathologic overview and MR imaging manifestations at initial evaluation and follow-up. Radiographics 25 (2005) 619-631
75. Bambirra E.A., Tafuri W.L., Borges H.H., et al. Wolman's disease: a clinicopathologic, electron microscopic, and histochemical study. Southampt Med J 75 (1982) 595-596
76. Miller R., Bialer M.G., Rogers J.F., et al. Wolman's disease: report of a case, with multiple studies. Arch Pathol Lab Med 106 (1982) 41-44