Diagnostic Histopathology
Volume 15, Issue 2 , Pages 69-78 , February 2009

Syndromes associated with abnormalities in the adrenal cortex

References 

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

PII: S1756-2317(09)00003-6

doi: 10.1016/j.mpdhp.2009.01.004

Diagnostic Histopathology
Volume 15, Issue 2 , Pages 69-78 , February 2009

Article Tools

* Image Usage & Resolution