ПЕРВИЧНАЯ ДВУСТОРОННЯЯ МАКРОНОДУЛЯРНАЯ ГИПЕРПЛАЗИЯ НАДПОЧЕЧНИКОВ (ОБЗОР ЛИТЕРАТУРЫ)
УДК 616.43
DOI: 10.22138/2500-0918-2018-15-3-432-454
Т.П. Киселева, Т.Р. Чжен
Уральский государственный медицинский университет, г. Екатеринбург, Российская Федерация
Резюме. Актуальность. Клиническая значимость АКТГ — независимой формы гиперкортицизма, также известной как первичная двусторонняя макронодулярная гиперплазия надпочечников (ПДМГН), была подтверждена многочисленными исследованиями, показавшими метаболические последствия хронической гиперсекреции кортизола (ожирение, нарушение углеводного обмена, дислипидемия, артериальная гипертензия). В последние годы обнаружена эктопическая или аберрантная экспрессия рецепторов гормона в G-белках в коре надпочечников: глюкозозависимого инсулинотропного полипептида (ГИП), вазопрессина, бета-адренергические, лютеинизирующий гормон / человеческий хорионический гонадотропин (ЛГ / ХГЧ) — рецепторы и серотониновые рецепторы, а также рецепторы ангиотензина, лептина, глюкагона, ИЛ-1 и TТГ. Описаны мутации гена ARMC5, расположенном в 16p11.2. Цель. Рассмотрение современных методов патогенеза, диагностики и лечения ПДМГН с СК и без него, определение перспективных направлений работы. Материалы и методы. Поиск литературы с поисковым термином: «ПДМГН, АКТГ — независимый гиперкортицизм, ARMC5 ген». Источник: PubMed, Medline. Результаты. Обзор 174 просмотренных публикаций, 5% пациентов имели первичную гиперплазию надпочечников). Выводы. Изучить влияние ПДМГН, ее новые возможности в лечении пациентов.
Ключевые слова: первичная двусторонняя макронодулярная гиперплазия надпочечников (ПДМГН), аберрантные рецепторы, гиперкортицизм, ген ARMC5
Дата поступления 02.02.2018
Образец цитирования:
Киселева Т.П., Чжен Т.Р. Первичная двусторонняя гиперплазия надпочечников (Обзор литературы). Вестник уральской медицинской академической науки. 2018, Том 15, №3, с. 432–454, DOI: 10.22138/2500-0918-2018-15-3-432-454
ЛИТЕРАТУРА
1. Lieberman SA, Eccleshall TR, Feldman D: ACTH-independent massive bilateral adrenal disease (AIMBAD): A subtype of Cushing’s syndrome with major diagnostic and therapeutic implications. Eur J Endocrinol 1994;131:67–73. doi: 10.1530/eje.0/1310067
2. Lacroix A. ACTH-independent macronodular adrenal hyperplasia. Best Pract Res Clin Endocrinol Metab. 2009;23:245–259. http://dx.doi.org/10.1016/j.beem.2008.10.011 [PubMed]
3. Bourdeau I, Stratakis CA. Cyclic AMP-dependent signaling aberrations in macronodular adrenal disease. Ann NY Acad Sci. 2002;968:240–255. doi: 10.1111/j.1749-6632.2002.tb04339.x [PubMed]
4. Swain JM, Grant CS, Schlinkert RT, Thompson GB, van Heerden JA, Lloyd RV, Young WF: Corticotropin-independent macronodular adrenal hyperplasia: A clinicopathologic correlation. Arch Surg 1998;133:541–545. doi: 10.1001/archsurg.133.5.541
5. Hsiao HP, Kirschner LS, Bourdeau I, et al. Clinical and genetic heterogeneity, overlap with other tumor syndromes, and atypical glucocorticoid hormone secretion in adrenocorticotropin-independent macronodular adrenal hyperplasia compared with other adrenocortical tumors. J Clin Endocrinol Metab. 2009;94:2930–2937. doi: 10.1210/jc.2009-0516. [PMC free article] [PubMed] [Cross Ref]
6. Kirschner MA, Powell RD Jr, Lipsett MB: Cushing’s syndrome: Nodular cortical hyperplasia of adrenal glands with clinical and pathological features suggesting adrenocortical tumor. J Clin Endocrinol Metab 1964;24:947– 955. doi:10.1210/jcem-24-10-947
7. Christopoulos S, Bourdeau I, Lacroix A. Clinical and subclinical ACTH-independent macronodular adrenal hyperplasia and aberrant hormone receptors. Horm Res. 2005;64(3):119–131. doi: 10.1159/000088818 [PubMed]
8. Stratakis CA, Kirschner LS: Clinical and genetic analysis of primary bilateral adrenal diseases (micro- and macronodular disease) leading to Cushing syndrome. Horm Metab Res 1998;30:456–463. doi: 10.1055/s-2007-978914
9. Malchoff CD, MacGillivray D, Malchoff DM: Adrenocorticotropic hormone-independent adrenal hyperplasia. Endocrinologist. 6(2):79-85, March 1996.
10. Zeiger MA, Nieman LK, Cutler GB, Chrousos GP, Doppman JL, Travis WD, Norton JA: Primary bilateral adrenocortical causes of Cushing’s syndrome. Surgery. 1991;110(6):1106 — 1115.
11. Aiba M, Hirayama A, Iri H, Ito Y, Fujimoto Y, Mabuchi G, Murai M, Tazaki H, Maruyama H, Saruta T: Adrenocorticotropic hormone-independent bilateral adrenocortical macronodular hyperplasia as a distinct subtype of Cushing’s syndrome. Enzyme histochemical and ultrastructural study of four cases with a review of the literature. Am J Clin Pathol 1991 Sep; 96(3):334–340.
12. Lacroix A, N’Diaye N, Tremblay J, Hamet P: Ectopic and abnormal hormone receptors in adrenal Cushing’s syndrome. Endocr Rev 2001 Feb;22(1):75–110. doi: 10.1210/edrv.22.1.0420
13. Sijmons RH. Encyclopaedia of tumour-associated familial disorders. Part I: from AIMAH to CHIME syndrome. Hered Cancer Clin Pract. 2008 Feb 15;6(1):22–57. doi: 10.1186/1897-4287-6-1-22. [PMC free article] [PubMed]
14. Groussin L, Jullian E, Perlemoine K, et al. Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. J Clin Endocrinol Metab. 2002 Sep;87(9):4324–4329. doi: 10.1210/jc.2002-020592 [PubMed]
15. Horvath A, Boikos S, Giatzakis C, et al. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat Genet. 2006 Jul;38(7):794–800. doi: 10.1038/ng1809 [PubMed]
16. Minami S, Sugihara H, Sato J, Tatsukuchi A, Sugisaki Y, Sasano H, Wakabayashi I: ACTH independent Cushing’s syndrome occurring in siblings. Clin Endocrinol (Oxf) 1996 Apr;44(4):483–488. doi: 10.1046/j.1365-2265.1996.682504.x
17. Nies C, Bartsch DK, Ehlenz K, Wild A, Langer P, Fleischhacker S, Rothmund M: Familial ACTH-independent Cushing’s syndrome with bilateral macronodular adrenal hyperplasia clinically affecting only female family members. Exp Clin Endocrinol Diabetes 2002 Sep;110(6):277–283. doi: 10.1055/s-2002-34590
18. Findlay JC, Sheeler LR, Engeland WC, Aron DC: Familial adrenocorticotropin-independent Cushing’s syndrome with bilateral macronodular adrenal hyperplasia. J Clin Endocrinol Metab 1993 Jan;76(1):189–191.doi: 10.1210/jcem.76.1.8380604
19. Imohl M, Koditz R, Stachon A, Muller KM, Nicolas V, Pfeilschifter J, Krieg M: Catecholamine-dependent hereditary Cushing’s syndrome – Follow-up after unilateral adrenalectomy (in German). Med Klin (Munich) 2002 Dec 15;97(12):747–753.
20. Lee S, Jun S, Hong SW, Kim DJ, Rhee Y, Lim SK: Familial adrenocorticotropin-independent macronodular adrenal hyperplasia: Ectopic expression of vasopressin V1b, V2 receptors in the adrenal gland (abstract). 86th Meeting of the Endocrine Society, New Orleans, 2004, p 566.
21. 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 Sep;86(9):4041–4046. doiI: 10.1210/jcem.86.9.7903 [PubMed]
22. Vezzosi D, Cartier D, Regnier C, et al. Familial adrenocorticotropin-independent macronodular adrenal hyperplasia with aberrant serotonin and vasopressin adrenal receptors. Eur J Endocrinol. 2007 Jan;156(3):21–31. doi: 10.1530/eje.1.02324. [PubMed] [Cross Ref]
23. Miyamura N, Taguchi T, Murata Y, et al. Inherited adrenocorticotropin-independent macronodular adrenal hyperplasia with abnormal cortisol secretion by vasopressin and catecholamines: detection of the aberrant hormone receptors on adrenal gland. Endocrine. 2002 Dec;19(3):319–326. doi: 10.1385/ENDO:19:3:319 [PubMed]
24. Matyakhina L, Freedman RJ, Bourdeau I, et al. Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation. J Clin Endocrinol Metab. 2005 Jun;90(6):3773–3779. doi: 10.1210/jc.2004-2377 [PubMed]
25. Marchesa P, Fazio VW, Church JM, McGannon E. Adrenal masses in patients with familial adenomatous polyposis. Dis Colon Rectum. 1997 Sep;40(9):1023–1028. doi: 10.1007/BF02050923 [PubMed]
26. Beuschlein F, Reincke M, Karl M, et al. Clonal composition of human adrenocortical neoplasms. Cancer Res. 1994 Sep;54(18):4927–4932. [PubMed]
27. Gicquel C, Leblond-Francillard M, Bertagna X, et al. Clonal analysis of human adrenocortical carcinomas and secreting adenomas. Clin Endocrinol (Oxf) 1994 Apr;40(4):465–477. doi: 10.1111/j.1365-2265.1994.tb02485.x [PubMed]
28. Louiset E, Duparc C, Young J, et al. Intraadrenal corticotropin in bilateral macronodular adrenal hyperplasia. N Engl J Med. 2013 Nov;369:2115–2125. doi: 10.1056/NEJMoa1215245 [PubMed]
29. Lacroix A. Heredity and cortisol regulation in bilateral macronodular adrenal hyperplasia. N Engl J Med. 2013 Nov 28;369(22):2147–2149. doi: 10.1056/NEJMe1312792 [PubMed]
30. Smals AG, Pieters GF, van Haelst UJ, Kloppenborg PW: Macronodular adrenocortical hyperplasia in long-standing Cushing’s disease. J Clin Endocrinol Metab 1984 Jan;58(1):25–31. doi: 10.1210/jcem-58-1-25
31. Doppman JL, Miller DL, Dwyer AJ, Loughlin T, Nieman L, Cutler GB, Chrousos GP, Oldfield E, Loriaux DL: Macronodular adrenal hyperplasia in Cushing disease. Radiology 1988 Feb;166(2):347–352. doi: 10.1148/radiology.166.2.2827231
32. Hermus AR, Pieters GF, Smals AG, Pesman GJ, Lamberts SW, Benraad TJ, van Haelst UJ, Kloppenborg PW: Transition from pituitary-dependent to adrenal-dependent Cushing’s syndrome. N Engl J Med 1988 Apr 14;318(15):966–970. doi:10.1056/NEJM198804143181506
33. Sturrock ND, Morgan L, Jeffcoate WJ: Autonomous nodular hyperplasia of the adrenal cortex: Tertiary hypercortisolism? Clin Endocrinol (Oxf) 1995 Dec;43(6):753–758. doi: 10.1111/j.1365-2265.1995.tb00546.x
34. Hocher B, Bahr V, Dorfmuller S, Oelkers W: Hypercortisolism with non-pigmented micronodular adrenal hyperplasia: Transition from pituitary-dependent to adrenal-dependent Cushing’s syndrome. Acta Endocrinol (Copenh) 1993 Fab;128(2):120–125.
35. Choi Y, Werk EE, Jr., Sholiton LJ: Cushing’s syndrome with dual pituitary-adrenal control. Arch Intern Med 1970 Jun;125(6):1045–1049. doi:10.1001/archinte.1970.00310060123016
36. Aron DC, Findling JW, Fitzgerald PA, Brooks RM, Fisher FE, Forsham PH, Tyrrell JB: Pituitary ACTH dependency of nodular adrenal hyperplasia in Cushing’s syndrome. Report of two cases and review of the literature. Am J Med 1981 Aug ;71(2):302–306. doi: https://doi.org/10.1016/0002-9343(81)90132-7
37. Cheitlin RA, Westphal M, Cabrera CM, Fujii DK, Snyder J, Fitzgerald PA: Cushing’s syndrome due to bilateral adrenal macronodular hyperplasia with undetectable ACTH: Cell culture of adenoma cells on extracellular matrix. Horm Res 1988;29(4):162–167. doi: 10.1159/000180995
38. Sasano H, Suzuki T, Nagura H: ACTH-independent macronodular adrenocortical hyperplasia: Immunohistochemical and in situ hybridization studies of steroidogenic enzymes. Mod Pathol 1994 Feb;7(2):215–219.
39. Wada N, Kubo M, Kijima H, Ishizuka T, Saeki T, Koike T, Sasano H: Adrenocorticotropin-independent bilateral macronodular adrenocortical hyperplasia: Immunohistochemical studies of steroidogenic enzymes and post-operative course in two men. Eur J Endocrinol 1996 May;134(5):583–587. doi: 10.1530/eje.0.1340583
40. Sasano H: Localization of steroidogenic enzymes in adrenal cortex and its disorders. Endocr J 1994 Oct;41(5):471–482. doi: https://doi.org/10.1507/endocrj.41.471
41. Bourdeau I, Antonini S, Lacroix A, Kirschner LS, Lorang D, Libutti SK, Stratakis CA: Gene array analysis of macronodular adrenal hyperplasia confirms clinical heterogeneity and identifies several genes as molecular mediators. Oncogene 2004;26:1575–1585. doi: 10.1038/sj.onc.1207277. [PubMed] [Cross Ref]
42. Bourdeau I, D’Amour P, Hamet P, Boutin J-M, Lacroix A: Aberrant membrane hormone receptors in incidentally discovered bilateral macronodular adrenal hyperplasia with subclinical Cushing’s syndrome. J Clin Endocrinol Metab 2001 Nov;86(11):5534–5540. doi: 10.1210/jcem.86.11.8062
43. Lacroix A, Bourdeau I, Lampron A, Mazzuco TL, Tremblay J, Hamet P. Aberrant G-protein coupled receptor expression in relation to adrenocortical overfunction. Clin Endocrinol (Oxf). 2010 Jul;73(1):1–15. doi: 10.1111/j.1365-2265.2009.03689.x [PubMed]
44. Lacroix A, Bolte E, Tremblay J, Dupre J, Poitras P, Fournier H, Garon J, Garrel D, Bayard F, Taillefer R, Flanagan RJ, Hamet P: Gastric inhibitory polypeptide-dependent cortisol hypersecretion – A new cause of Cushing’s syndrome. N Engl J Med 1992;327:974–980. doi: 10.1056/NEJM199210013271402.[PubMed] [Cross Ref]
45. Reznik Y, Allali-Zerah V, Chayvialle JA, Leroyer R, Leymarie P, Travert G, Lebrethon MC, Budi I, Balliere AM, Mahoudeau J: Food-dependent Cushing’s syndrome mediated by aberrant adrenal sensitivity to gastric inhibitory polypeptide. N Engl J Med 1992;327:981–986. doi: 10.1056/NEJM199210013271403. [PubMed] [Cross Ref]
46. Herder WW, Hofland LJ, Usdin TB, de Jong FH, Uitterlinden P, van Koetsveld P, Mezey E, Bonner TI, Bonjer HJ, Lamberts SW. Food-dependent Cushing’s syndrome resulting from abundant expression of gastric inhibitory polypeptide receptors in adrenal adenoma cells. J Clin Endocrinol Metab. 1996;81:3168–3172. doi: 10.1210/jc.81.9.3168. [PubMed] [Cross Ref]
47. Horiba N, Suda T, Aiba M, Naruse M, Nomura K, Imamura M, Demura H: Lysine vasopressin stimulation of cortisol secretion in patients with adrenocorticotropin-independent macronodular adrenal hyperplasia. J Clin Endocrinol Metab 1995;80:2336–2341. doi: 10.1210/jc.80.8.2336.[PubMed] [Cross Ref]
48. Lacroix A, Tremblay J, Touyz RM, Deng LY, Lariviere R, Cusson JR, Schiffrin EL, Hamet P: Abnormal adrenal and vascular responses to vasopressin mediated by a V1-vasopressin receptor in a patient with adrenocorticotropin-independent macronodular adrenal hyperplasia, Cushing’s syndrome, and orthostatic hypotension. J Clin Endocrinol Metab 1997;82:2414–2422. doi:10.1210/jc.82.8.2414. [PubMed] [Cross Ref]
49. Arnaldi G, Gasc JM, de Keyzer Y, Raffin-Sanson ML, Perraudin V, Kuhn JM, Raux-Demay MC, Luton JP, Clauser E, Bertagna X: Variable expression of the V1 vasopressin receptor modulates the phenotypic response of steroid-secreting adrenocortical tumors. J Clin Endocrinol Metab 1998 Jun;83(6):2029–2035. doi: 10.1210/jcem.83.6.4873
50. Cartier D, Lihrmann I, Parmentier F, Bastard C, Bertherat J, Caron P, Kuhn JM, Lacroix A, Tabarin A, Young J, Vaudry H, Lefebvre H: Overexpression of serotonin4 receptors in cisapride-responsive adrenocorticotropin-independent bilateral macronodular adrenal hyperplasia causing Cushing’s syndrome. J Clin Endocrinol Metab 2003;88:248–254. doi: 10.1210/jc.2002-021107. [PubMed][Cross Ref]
51. Lacroix A, Tremblay J, Rousseau G, Bouvier M, Hamet P: Propranolol therapy for ectopic beta-adrenergic receptors in adrenal Cushing’s syndrome. N Engl J Med 1997;337:1429–1434. doi: 10.1056/NEJM199711133372004. [PubMed] [Cross Ref]
52. Assie G, Louiset E, Sturm N, Rene-Corail F, Groussin L, Bertherat J, et al. Systematic analysis of G protein-coupled receptor gene expression in adrenocorticotropin-independent macronodular adrenocortical hyperplasia identifies novel targets for pharmacological control of adrenal Cushing’s syndrome. J Clin Endocrinol Metab (2010) 95:E253–62. doi:10.1210/jc.2009-2281 [PubMed] [Cross Ref]
53. Lacroix A, Hamet P, Boutin JM: Leuprolide acetate therapy in luteinizing hormone-dependent Cushing’s syndrome. N Engl J Med 1999;341:1577–1581. doi: 10.1056/NEJM199911183412104.[PubMed] [Cross Ref]
54. Feelders RA, Lamberts SW, Hofland LJ, van Koetsveld PM, Verhoef-Post M, Themmen AP, de Jong FH, Bonjer HJ, Clark AJ, van der Lely AJ, de Herder WW: Luteinizing hormone (LH)-responsive Cushing’s syndrome: The demonstration of LH receptor messenger ribonucleic acid in hyperplastic adrenal cells, which respond to chorionic gonadotropin and serotonin agonists in vitro. J Clin Endocrinol Metab 2003;88:230–237. doi: 10.1210/jc.2002-020621. [PubMed] [Cross Ref]
55. Mazzuco TL, Chabre O, Feige JJ, Thomas M. Aberrant expression of human luteinizing hormone receptor by adrenocortical cells is sufficient to provoke both hyperplasia and Cushing’s syndrome features. J Clin Endocrinol Metab. 2006;91:196–203. doi: 10.1210/jc.2005-1975. [PubMed][Cross Ref]
56. Nakamura Y, Son Y, Kohno Y, Shimono D, Kuwamura N, Koshiyama H, Sasano H, Matsuda T: Case of adrenocorticotropic hormone-independent macronodular adrenal hyperplasia with possible adrenal hypersensitivity to angiotensin II. Endocrine 2001;15:57–61. doi: 10.1385/ENDO:15:1:057.[PubMed] [Cross Ref]
57. Miguel V, Redal MA, Viale ML, Kahan M, Glerean M, Beskow A, Fainstein Day P. Aberrant expression of glucagon receptors in adrenal glands of a patient with Cushing’s syndrome and ACTH-independent macronodular adrenal hyperplasia. Medicina (B Aires) 2010;70(3):254–256. PMID: 20529775. [PubMed]
58. Libe R, Coste J, Guignat L, Tissier F, Lefebvre H, Barrande G, Ajzenberg C, Tauveron I, Clauser E, Dousset B. et al. Aberrant cortisol regulations in bilateral macronodular adrenal hyperplasia: a frequent finding in a prospective study of 32 patients with overt or subclinical Cushing’s syndrome. Eur J Endocrinol. 2010;163:129–138. doi: 10.1530/EJE-10-0195. [PubMed] [Cross Ref]
59. Schorr I, Ney RL: Abnormal hormone responses of an adrenocortical cancer adenyl cyclase. J Clin Invest 1971 Jun;50(6):1295–1300. doi: 10.1172/JCI106608
60. 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.doi: https://doi.org/10.1016/S0022-3476(99)70302-1
61. Aarskog D, Tveteraas E: McCune-Albright’s syndrome following adrenalectomy for Cushing’s syndrome in infancy. J Pediatr 1968 Jul;73(1):89–96. https://doi.org/10.1016/S0022-3476(68)80043-5
62. Benjamin DR, McRoberts JW: Polyostotic fibrous dysplasia associated with Cushing syndrome. Arch Pathol 1973 Sep;96(3):175–178.
63. Mauras N, Blizzard RM: The McCune-Albright syndrome. Acta Endocrinol Suppl (Copenh) 1986;279:207–217.
64. Shenker A, Laue L, Kosugi S, Merendino JJJ, Minegishi T, Cutler GBJ: A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature 1993 Oct 14;365(6447):652–654. doi: 10.1038/365652a0
65. MacMahon HE: Albright’s syndrome – Thirty years later. (Polyostotic fibrous dysplasia). Pathol Annu 1971;6:81–146.
66. Danon M, Robboy SJ, Kim S, Scully R, Crawford JD: Cushing syndrome, sexual precocity, and polyostotic fibrous dysplasia (Albright syndrome) in infancy. J Pediatr 1975 Dec;87(6 Pt 1):917–921.doi: https://doi.org/10.1016/S0022-3476(75)80905-X
67. Hamet P, Larochelle P, Franks DJ, Cartier P, Bolte E: Cushing syndrome with food-dependent periodic hormonogenesis. Clin Invest Med 1987 Nov;10(6):530–533.
68. N’Diaye N, Hamet P, Tremblay J, Boutin JM, Gaboury L, Lacroix A: Asynchronous development of bilateral nodular adrenal hyperplasia in gastric inhibitory polypeptide-dependent Cushing’s syndrome. J Clin Endocrinol Metab 1999 Aug;84(8):2616–2622. doi: 10.1210/jcem.84.8.5930
69. Lebrethon MC, Avallet O, Reznik Y, Archambeaud F, Combes J, Usdin TB, Narboni G, Mahoudeau J, Saez JM: Food-dependent Cushing’s syndrome: Characterization and functional role of gastric inhibitory polypeptide receptor in the adrenals of three patients. J Clin Endocrinol Metab 1998 Dec;83(12):4514–4519. doi: 10.1210/jcem.83.12.5336
70. Pralong FP, Gomez F, Guillou L, Mosimann F, Franscella S, Gaillard RC: Food-dependent Cushing’s syndrome: Possible involvement of leptin in cortisol hypersecretion. J Clin Endocrinol Metab 1999 Oct;84(10):3817–3822. doi: 10.1210/jcem.84.10.6068
71. Gerl H, Rohde W, Biering H, Schulz N, Lochs H: Food-dependent Cushing syndrome of long standing with mild clinical features (in German). Dtsch Med Wochenschr 2000 Dec 22;125(51-52):1565–1568.doi: 10.1055/s-2000-9524
72. Groussin L, Perlemoine K, Contesse V, Lefebvre H, Tabarin A, Thieblot P, Schlienger JL, Luton JP, Bertagna X, Bertherat J: The ectopic expression of the gastric inhibitory polypeptide receptor is frequent in adrenocorticotropin-independent bilateral macronodular adrenal hyperplasia, but rare in unilateral tumors. J Clin Endocrinol Metab 2002 May;87(5):1980–1985. doi: 10.1210/jcem.87.5.8458
73. Croughs RJ, Zelissen PM, Van Vroonhoven ThJ, Hofland LJ, N’Diaye N, Lacroix A, de Herder WW: GIP-dependent adrenal Cushing’s syndrome with incomplete suppression of ACTH. Clin Endocrinol (Oxf) 2000 Feb;52(2):235–240. doi: 10.1046/j.1365-2265.2000.00932.x
74. Chabre O, Liakos P, Vivier J, Chaffanjon P, Labat-Moleur F, Martinie M, Bottari SP, Bachelot I, Chambaz EM, Defaye G, Feige JJ: Cushing’s syndrome due to a gastric inhibitory polypeptide-dependent adrenal adenoma: Insights into hormonal control of adrenocortical tumorigenesis. J Clin Endocrinol Metab 1998 Sep;83(9):3134–3143. doi: 10.1210/jcem.83.9.5140
75. Luton JP, Bertagna X: Membrane receptors and endocrine tumors: Expression of vasopressin receptor V1 modulates the pharmacologic phenotype of adrenocortical tumors (in French). Bull Acad Natl Med 1998;182(2):299–309.
76. Tsagarakis S, Tsigos C, Vassiliou V, Tsiotra P, Pratsinis H, Kletsas D, Trivizas P, Nikou A, Mavromatis T, Sotsiou F, Raptis S, Thalassinos N: Food-dependent androgen and cortisol secretion by a gastric inhibitory polypeptide-receptor expressive adrenocortical adenoma leading to hirsutism and subclinical Cushing’s syndrome: In vivo and in vitro studies. J Clin Endocrinol Metab 2001 Feb;86(2):583–589. doi: 10.1210/jcem.86.2.7171
77. N’Diaye N, Tremblay J, Hamet P, de Herder WW, Lacroix A: Adrenocortical overexpression of gastric inhibitory polypeptide receptor underlies food-dependent Cushing’s syndrome. J Clin Endocrinol Metab 1998 Aug;83(8):2781–2785. doi: 10.1210/jcem.83.8.5038
78. Longo-Mazzuco T, Chabre O, Feige JJ, Thomas M: Demonstration du potentiel transformant du gene du recepteur du GIP dans les cellules du cortex surrenalien: un pas vers l’etiologie du syndrome de Cushing lie a l’alimentation. Ann Endocrinol (Paris) 2004;65:267.
79. Mazzocchi G, Rebuffat P, Meneghelli V, et al. Gastric inhibitory polypeptide stimulates glucocorticoid secretion in rats, acting through specific receptors coupled with the adenylate cyclase-dependent signaling pathway. Peptides. 1999;20(5):589-594. https://doi.org/10.1016/S0196-9781(99)00011-X
80. Lee S, Jun S, Hong SW, Kim DJ, Rhee Y, Lim SK: Familial adrenocorticotropin-independent macronodular adrenal hyperplasia: Ectopic expression of vasopressin V1b, V2 receptors in the adrenal gland (abstract). 86th Meeting of the Endocrine Society, New Orleans, 2004, p 566.
81. Yamakita N, Murai T, Ito Y, Miura K, Ikeda T, Miyamoto K, Onami S, Yoshida T: Adrenocorticotropin-independent macronodular adrenocortical hyperplasia associated with multiple colon adenomas/carcinomas which showed a point mutation in the APC gene. Intern Med 1997 Aug;36(8):536–542.
82. Campbell KK, Baysdorfer C, Antonini S, Lacroix A: V1 vasopressin receptor sequence and expression in adrenal Cushing’s syndrome with aberrant response to vasopressin (abstract). 86th Meeting of the Endocrine Society, New Orleans, 2004, p 566.
83. Louiset E, Contesse V, Cartier D, Bertherat J, Duparc C, Barrande G, Groussin L, Vaudry H, Lefebvre H: Pharmacological profile and coupling mechanisms of illegitimate receptors in ACTH-independent macronodular bilateral adrenal hyperplasia causing Cushing’s syndrome (abstract). 86th Meeting of the Endocrine Society, New Orleans, 2004, p 564.
84. Mune T, Murase H, Yamakita N, Fukuda T, Murayama M, Miura A, Suwa T, Hanafusa J, Daido H, Morita H, Yasuda K: Eutopic overexpression of vasopressin V1a receptor in adrenocorticotropin-independent macronodular adrenal hyperplasia. J Clin Endocrinol Metab 2002 Dec;87(12):5706–5713. doi: 10.1210/jc.2002-020067
85. Beuschlein F, Reincke M, Karl M, Travis WD, Jaursch-Hancke C, Abdelhamid S, Chrousos GP, Allolio B: Clonal composition of human adrenocortical neoplasms. Cancer Res 1994 Sep;54(18):4927–4932.
86. Daidoh H, Morita H, Hanafusa J, Mune T, Murase H, Sato M, Shibata T, Suwa T, Ishizuka T, Yasuda K: In vivo and in vitro effects of AVP and V1a receptor antagonist on Cushing’s syndrome due to ACTH-independent bilateral macronodular adrenocortical hyperplasia. Clin Endocrinol (Oxf) 1998 Sep;49(3):403–409. doi: 10.1046/j.1365-2265.1998.00490.x
87. Iida K, Kaji H, Matsumoto H, Okimura Y, Abe H, Fujisawa M, Kamidono S, Chihara K: Adrenocorticotrophin-independent macronodular adrenal hyperplasia in a patient with lysine vasopressin responsiveness but insensitivity to gastric inhibitory polypeptide. Clin Endocrinol (Oxf) 1997 Dec;47(6):739–745. doi: 10.1046/j.1365-2265.1997.3011151.x
88. Mircescu H, Jilwan J, N’Diaye N, Bourdeau I, Tremblay J, Hamet P, Lacroix A: Are ectopic or abnormal membrane hormone receptors frequently present in adrenal Cushing’s syndrome? J Clin Endocrinol Metab 2000 Oct;85(10):3531–3536.doi: 10.1210/jcem.85.10.6865
89. Perraudin V, Delarue C, de Keyzer Y, Bertagna X, Kuhn JM, Contesse V, Clauser E, Vaudry H: Vasopressin-responsive adrenocortical tumor in a mild Cushing’s syndrome: In vivo and in vitro studies. J Clin Endocrinol Metab 1995 Sep;80(9):2661–2667. doi: 10.1210/jcem.80.9.7673409
90. Pignatelli D, Rodrigues E, Barbosa AM, Medina JL: Cushing syndrome due to the ectopic expression of adrenergic receptors in the adrenal cortex. A case of ACTH independent macronodular adrenal hyperplasia (AIMAH) (abstract). 86th Meeting of the Endocrine Society, New Orleans, 2004, p 611.
91. Miyamura N, Tsutsumi A, Senokuchi H, Nakamaru K, Kawashima J, Sakai K, Taguchi T, Tokunaga H, Nishida K, Uehara M, Sakakida M, Araki E: A case of ACTH-independent macronodular adrenal hyperplasia: Simultaneous expression of several aberrant hormone receptors in the adrenal gland. Endocr J 2003 Jun;50(3):333–340. doi: 10.1507/endocrj.50.333
92. Segaloff DL, Ascoli M: The lutropin/choriogonadotropin receptor. 4 years later. Endocr Rev 1993 Jun;14(3):324–347. doi: 10.1210/edrv-14-3-324
93. Seron-Ferre M, Lawrence CC, Jaffe RB: Role of hCG in regulation of the fetal zone of the human fetal adrenal gland. J Clin Endocrinol Metab 1978 May;46(5):834–837. doi: 10.1210/jcem-46-5-834
94. N’Diaye N, Cartier D, Bourdeau I, Tremblay J, Hamet P, Lefebvre H, Lacroix A: Characterization of aberrant LH/hCG and serotonin 5-HT4 receptors in adrenal Cushing’s syndrome (abstract). 83rd Annual Meeting of the Endocrine Society, Denver, 2001, p 235.
95. Bertherat J, Barrande G, Lefebvre H, Raffin-Sanson ML, Bertagna X: Systematic screening confirms that illicit membrane receptors are frequent and often multiple in bilateral ACTH-independent macronodular adrenal hyperplasia (AIMAH) (abstract). 83rd Annual Meeting of the Endocrine Society, Denver, 2001, p 233.
96. Lefebvre H, Contesse V, Delarue C, Vaudry H, Kuhn JM: Serotonergic regulation of adrenocortical function. Horm Metab Res 1998 Jun-Jul;30(6-7):398–403. doi: 10.1055/s-2007-978904
97. Mannelli M, Ferruzzi P, Luciani P, Crescioli C, Buci L, Corona G, Serio M, Peri A: Cushing’s syndrome in a patient with bilateral macronodular adrenal hyperplasia responding to cisapride: An in vivo and in vitro study. J Clin Endocrinol Metab 2003 Oct;88(10):4616–4622. doi: 10.1210/jc.2002-021949
98. Hayashi Y, Takeda Y, Kaneko K, Koyama H, Aiba M, Ikeda U, Shimada K: A case of Cushing’s syndrome due to ACTH-independent bilateral macronodular hyperplasia associated with excessive secretion of mineralocorticoids. Endocr J 1998 Aug;45(4):485–491. https://doi.org/10.1507/endocrj.45.485
99. Bertherat J, Contesse V, Louiset E, Barrande G, Duparc C, Groussin L, Emy P, Bertagna X, Kuhn JM, Vaudry H, Lefebvre H: Abnormal sensitivity of the adrenocortical tissue to multiple stimuli in ACTH-independent macronodular adrenal hyperplasia (AIMAH) causing Cushing’s syndrome: In vivo and in vitro studies (abstract). 86th Meeting of the Endocrine Society, New Orleans, 2004, p 562.
100. Slieker LJ, Sloop KW, Surface PL, Kriauciunas A, LaQuier F, Manetta J, Bue-Valleskey J, Stephens TW: Regulation of expression of ob mRNA and protein by glucocorticoids and cAMP. J Biol Chem 1996 Mar;271(10):5301–5304. doi: 10.1074/jbc.271.10.5301
101. Glasow A, Bornstein SR, Chrousos GP, Brown JW, Scherbaum WA: Detection of Ob-receptor in human adrenal neoplasms and effect of leptin on adrenal cell proliferation. Horm Metab Res 1999 Apr;31(4):247–251. doi: 10.1055/s-2007-978726
102. Pralong FP, Roduit R, Waeber G, Castillo E, Mosimann F, Thorens B, Gaillard RC: Leptin inhibits directly glucocorticoid secretion by normal human and rat adrenal gland. Endocrinology 1998 Oct;139(10):4264–4268. doi: 10.1210/endo.139.10.6254
103. Makino S, Hashimoto K, Sugiyama M, Hirasawa R, Takao T, Ota Z, Saegusa M, Ohashi T, Omori H: Cushing’s syndrome due to huge nodular adrenocortical hyperplasia with fluctuation of urinary 17-OHCS excretion. Endocrinol Jpn 1989 Oct;36(5):655–663.
104. Hashimoto K, Kawada Y, Murakami K, Hattori T, Suemaru S, Kageyama J, Ota Z, Hayata S, Ohashi T, Omori H: Cortisol responsiveness to insulin-induced hypoglycemia in Cushing’s syndrome with huge nodular adrenocortical hyperplasia. Endocrinol Jpn 1986 Aug;33(4):479–487. https://doi.org/10.1507/endocrj1954.33.479
105. Lacroix A, Baldacchino V, Bourdeau I, Hamet P, Tremblay J: Cushing’s syndrome variants secondary to aberrant hormone receptors. Trends Endocrinol Metab 2004 Oct;15(8):375–382. doi: 10.1016/j.tem.2004.08.007
106. Willenberg HS, Stratakis CA, Marx C, Ehrhart-Bornstein M, Chrousos GP, Bornstein SR: Aberrant interleukin-1 receptors in a cortisol-secreting adrenal adenoma causing Cushing’s syndrome. N Engl J Med 1998 Jul 3;339(1):27–31. doi: 10.1056/NEJM199807023390105
107. Burgess JR, Harle RA, Tucker P, et al. Adrenal lesions in a large kindred with multiple endocrine neoplasia type 1. Arch Surg. 1996 Jul;131(7):699–702. doi:10.1001/archsurg.1996.01430190021006 [PubMed]
108. Assie G, Libe R, Espiard S, et al. ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome. N Engl J Med. 2013;369:2105–2114. doi: 10.1056/NEJMoa1304603 [PMC free article] [PubMed] [Cross Ref]
109. Fabio R, et al. Macronodular Adrenal Hyperplasia due to Mutations in an Armadillo Repeat Containing 5 (ARMC5) Gene: A Clinical and Genetic Investigation J Clin Endocrinol Metab. 2014 Jun; 99(6): E1113–E1119. doi: 10.1210/jc.2013-4280
110. Faucz FR, Zilbermint M, Lodish MB, et al. Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation. J Clin Endocrinol Metab. 2014;99:E1113–E1119. Doi: 10.1210/jc.2013-4280 [PMC free article][PubMed] [Cross Ref]
111. Alencar GA, Lerario AM, Nishi MY, et al. ARMC5 mutations are a frequent cause of primary macronodular adrenal hyperplasia. J Clin Endocrinol Metab. 2014 Aug;99(8):E1501–E1509. doi: 10.1210/jc.2013-4237 [PubMed] [Cross Ref]
112. Gagliardi L, Schreiber AW, Hahn CN, Feng J, Cranston T, Boon H, et al. ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia. J Clin Endocrinol Metab 2014;99:E1784–92. doi: 10.1210/jc.2014-1265 [PubMed] [Cross Ref]
113. Elbelt U, Trovato A, Kloth M, et al. Molecular and clinical evidence for an ARMC5 tumor syndrome: concurrent inactivating germline and somatic mutations are associated with both primary macronodular adrenal hyperplasia and meningioma. J Clin Endocrinol Metab. 2015;100:E119–E128. doi: 10.1210/jc.2014-2648 [PMC free article] [PubMed] [Cross Ref]
114. Antonini SR, Baldacchino V, Tremblay J, Hamet P, Lacroix A. Expression of ACTH receptor pathway genes in glucose-dependent insulinotrophic peptide (GIP)-dependent Cushing’s syndrome. Clin Endocrinol (Oxf) 2006;64:29–36. doi: 10.1111/j.1365-2265.2005.02411.x [PubMed] [Cross Ref]
115. Espiard S, Drougat L, Libe R, Assie G, Perlemoine K, Guignat L, et al. ARMC5 mutations in a large cohort of primary macronodular adrenal hyperplasia: clinical and functional consequences. J Clin Endocrinol Metab 2015. Jun; 100(6): E926–E935. doi: 10.1210/jc.2014-4204 [PMC free article] [PubMed] [Cross Ref]
116. Zilbermint M, Xekouki P, Faucz FR, Berthon A, Gkourogianni A, Helene Schernthaner-Reiter M, et al. Primary aldosteronism and ARMC5 variants. J Clin Endocrinol Metab (2015). doi: 10.1210/jc.2014-4167 [PMC free article] [PubMed] [Cross Ref]
117. Xu Y, Rui W, Qi Y, Zhang C, Zhao J, Wang X, Wu Y, Zhu Q, Shen Z, Ning G, Zhu Y. The role of unilateral adrenalectomy in corticotropin-independent bilateral adrenocortical hyperplasias. World J Surg. 2013;37(7):1626–1632. doi: 10.1007/s00268-013-2059-9. [PubMed] [Cross Ref]
118. Tokumoto M, et al. A case of Adrenocoricotrophic hormone -independent bilateral adrenocortical macronodular hyperplasia concomitant with primary aldosteronism. BMC Surg. 2017; 17: 97. doi: 10.1186/s12893-017-0293-z
119. Doppman JL, Chrousos GP, Papanicolaou DA, Stratakis CA, Alexander HR, Nieman LK. Adrenocorticotropin-independent macronodular adrenal hyperplasia: an uncommon cause of primary adrenal hypercortisolism. Radiology. 2000;216:797–802. doi: 10.1148/radiology.216.3.r00au40797.[PubMed] [Cross Ref]
120. Mellinger RC, Smith RW Jr Studies of the adrenal hyperfunction in 2 patients with atypical Cushing’s syndrome. J Clin Endocrinol Metab. 1956 Mar;16(3):350–366. doi: 10.1210/jcem-16-3-350 [PubMed]
121. Sarlis NJ, Chrousos GP, Doppman JL, et al. Primary pigmented nodular adrenocortical disease: reevaluation of a patient with carney complex 27 years after unilateral adrenalectomy. J Clin Endocrinol Metab. 1997 Apr;82(4):1274–1278. doi: 10.1210/jcem.82.4.3857 [PubMed]
122. Gomez Muguruza MT, Chrousos GP. Periodic Cushing syndrome in a short boy: usefulness of the ovine corticotropin releasing hormone test. J Pediatr. 1989 Aug;115(2):270–273. doi: https://doi.org/10.1016/S0022-3476(89)80081-2 [PubMed]
123. Sarlis NJ, Papanicolaou DA, Chrousos GP, Stratakis CA. Paradoxical increase ofurinary free cortisol and 17-hydroxysteroids to dexamethasone during Liddle’s test: a diagnostic test for primary pigmented adrenocortical disease. Proceedings of the 79th Annual Meeting of the Endocrine Society in Minneapolis, MN; Endocrine Society Press; 1997. p. 303. [Abstract P2 – 76]
124. Caticha O, Odell WD, Wilson DE, et al. Estradiol stimulates cortisol production by adrenal cells in estrogen-dependent primary adrenocortical nodular dysplasia. J Clin Endocrinol Metab. 1993 Aug;77(2):494–497. doi: 10.1210/jcem.77.2.8345057 [PubMed]
125. Carney JA, Gordon H, Carpenter PC, et al. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore) 1985 Jul;64(4):270–283. [PubMed]
126. Ohashi A, Yamada Y, Sakaguchi K, Inoue T, Kubo M, Fushimi H: A natural history of adrenocorticotropin-independent bilateral adrenal macronodular hyperplasia (AIMAH) from preclinical to clinically overt Cushing’s syndrome. Endocr J 2001 Oct;48(6):677–683.
127. Sasao T, Itoh N, Sato Y, et al. Subclinical Cushing syndrome due to adrenocorticotropic hormone-independent macronodular adrenocortical hyperplasia: changes in plasma cortisol levels during long-term follow-up. Urology. 2000;55:145. http://dx.doi.org/10.1016/S0090-4295(99)00381-7. [PubMed]
128. Lee KT, Arnott RD, McLean CA, et al. Corticotropin-independent macronodular adrenal hyperplasia associated with insulinoma. Endocr Pract. 2011;17:e43–7. http://dx.doi.org/10.4158/EP10213.CR.[PubMed]
129. Yamada Y, Sakaguchi K, Inoue T, Kubo M, Fushimi H, Sekii K, Itatani H, Tsujimura T, Kameyama M: Preclinical Cushing’s syndrome due to adrenocorticotropin-independent bilateral adrenocortical macronodular hyperplasia with concurrent excess of gluco- and mineralocorticoids. Intern Med 1997 Sep;36(9):628–632. https://doi.org/10.2169/internalmedicine.36.628
130. Yared Z, Antonini S, Lacroix A: Macronodular adrenal hyperplasia with long-term primary hyperaldosteronism and recent cyclical Cushing’s syndrome with aberrant response of cortisol to serotonin agonist 5-HT4 R (abstract). 85th Meeting of the Endocrine Society, Philadelphia, 2003, p 445.
131. Malchoff CD, Rosa J, DeBold CR, Kozol RA, Ramsby GR, Page DL, Malchoff DM, Orth DN: Adrenocorticotropin-independent bilateral macronodular adrenal hyperplasia: An unusual cause of Cushing’s syndrome. J Clin Endocrinol Metab 1989 Apr;68(4):855–860. doi: 10.1210/jcem-68-4-855
132. Goodarzi MO, Dawson DW, Li X, Lei Z, Shintaku P, Rao CV, Van Herle AJ: Virilization in bilateral macronodular adrenal hyperplasia controlled by luteinizing hormone. J Clin Endocrinol Metab 2003 Jan;88(1):73–77. doi: 10.1210/jc.2002-021292
133. Wilmot Roussel H, Vezzosi D, Rizk-Rabin M, et al. Identification of gene expression profiles associated with cortisol secretion in adrenocortical adenomas. J Clin Endocrinol Metab. 2013;98(6):E1109–E1121. doi: 10.1210/jc.2012-4237 [PubMed]
134. Rone MB, Fan J, Papadopoulos V. Cholesterol transport in steroid biosynthesis: role of protein-protein interactions and implications in disease states. Biochim Biophys Acta. 2009 Jul;1791(7):646–658. doi: 10.1016/j.bbalip.2009.03.001. [PMC free article] [PubMed]
135. Burg JS, Espenshade PJ. Regulation of HMG-CoA reductase in mammals and yeast. Prog Lipid Res. 2011 Oct;50(4):403–410. doi: 10.1016/j.plipres.2011.07.002. [PMC free article] [PubMed]
136. Hauet T, Liu J, Li H, Gazouli M, Culty M, Papadopoulos V. PBR, StAR, and PKA: partners in cholesterol transport in steroidogenic cells. Endocr Res. 2002 Nov;28(4):395–401. [PubMed]
137. Borkowski AJ, Levin S, Delcroix C, Mahler A, Verhas V. Blood cholesterol and hydrocortisone production in man: quantitative aspects of the utilization of circulating cholesterol by the adrenals at rest and under adrenocorticotropin stimulation. J Clin Invest. 1967 May;46(5):797–811. doi: 10.1172/JCI105580 [PMC free article][PubMed]
138. Connelly MA, Williams DL. SR-BI and cholesterol uptake into steroidogenic cells. Trends Endocrinol Metab. 2003 Dec;14(10):467–472. https://doi.org/10.1016/j.tem.2003.10.002 [PubMed]
139. Brown MS, Kovanen PT, Goldstein JL. Receptor-mediated uptake of lipoprotein-cholesterol and its utilization for steroid synthesis in the adrenal cortex. Recent Prog Horm Res. 1979;35:215–257. [PubMed]
140. Illingworth DR, Alam NA, Lindsey S. Adrenocortical response to adrenocorticotropin in heterozygous familial hypercholesterolemia. J Clin Endocrinol Metab. 1984 Jan;58(1):206–211. doi: 10.1210/jcem-58-1-206 [PubMed]
141. Bochem AE, Holleboom AG, Romijn JA, et al. High density lipoprotein as a source of cholesterol for adrenal steroidogenesis: a study in individuals with low plasma HDL-C. J Lipid Res. 2013 Jun;54(6):1698–1704. doi: 10.1194/jlr.P033449 [PMC free article] [PubMed]
142. Hoekstra M, Korporaal SJ, van der Sluis RJ, et al. LCAT deficiency in mice is associated with a diminished adrenal glucocorticoid function. J Lipid Res. 2013 Feb;54(2):358–364. doi: 10.1194/jlr.M030080 [PMC free article][PubMed]
143. Schmitz G, Langmann T. Structure, function and regulation of the ABC1 gene product. Curr Opin Lipidol. 2001 Apr;12(2):129–140. [PubMed]
144. Clark BJ, Stocco DM. StAR-A tissue specific acute mediator of steroidogenesis. Trends Endocrinol Metab. 1996 Sep;7(7):227–233. [PubMed]
145. London Е, et al. Cholesterol Biosynthesis and Trafficking in Cortisol-Producing Lesions of the Adrenal Cortex. J Clin Endocrinol Metab. 2015 Oct; 100(10): 3660–3667. doi: 10.1210/jc.2015-2212
146. Azziz R, Chang WY, Stanczyk FZ, Woods K. Effect of bilateral oophorectomy on adrenocortical function in women with polycystic ovary syndrome. Fertil Steril. 2013 Feb;99(2):599–604. doi: 10.1016/j.fertnstert.2012.10.016 [PMC free article][PubMed]
147. Rosenfield RL, Mortensen M, Wroblewski K, Littlejohn E, Ehrmann DA. Determination of the source of androgen excess in functionally atypical polycystic ovary syndrome by a short dexamethasone androgen-suppression test and a low-dose ACTH test. Hum Reprod. 2011 Nov;26(11):3138–3146. doi: 10.1093/humrep/der291. [PMC free article][PubMed]
148. Azziz R, Black V, Hines GA, Fox LM, Boots LR. Adrenal androgen excess in the polycystic ovary syndrome: sensitivity and responsivity of the hypothalamic-pituitary-adrenal axis. J Clin Endocrinol Metab. 1998 Jul;83(7):2317–2323. doi: 10.1210/jcem.83.7.4948 [PubMed]
149. Stewart PM, Penn R, Holder R, Parton A, Ratcliffe JG, London DR. The hypothalamo-pituitary-adrenal axis across the normal menstrual cycle and in polycystic ovary syndrome. Clin Endocrinol (Oxf). 1993 Apr;38(4):387–391. doi: 10.1111/j.1365-2265.1993.tb00519.x [PubMed]
150. Lachelin GC, Barnett M, Hopper BR, Brink G, Yen SS. Adrenal function in normal women and women with the polycystic ovary syndrome. J Clin Endocrinol Metab. 1979 Dec;49(6):892–898. doi:10.1210/jcem-49-6-892 [PubMed]
151. Moran C, Reyna R, Boots LS, Azziz R. Adrenocortical hyperresponsiveness to corticotropin in polycystic ovary syndrome patients with adrenal androgen excess. Fertil Steril. 2004 Jan;81(1):126–131. doi: https://doi.org/10.1016/j.fertnstert.2003.07.008 [PubMed]
152. Azziz R, Bradley EL, Jr, Potter HD, Boots LR. Adrenal androgen excess in women: lack of a role for 17-hydroxylase and 17,20-lyase dysregulation. J Clin Endocrinol Metab. 1995 Feb;80(2):400–405. doi: 10.1210/jcem.80.2.7852496. [PubMed]
153. Kahsar-Miller M, Boots LR, Bartolucci A, Azziz R. Role of a CYP17 polymorphism in the regulation of circulating dehydroepiandrosterone sulfate levels in women with polycystic ovary syndrome. Fertil Steril. 2004 Oct;82(4):973–975. doi: 10.1016/j.fertnstert.2004.05.068. [PubMed]
154. Martens JW, Geller DH, Arlt W, et al. Enzymatic activities of P450c17 stably expressed in fibroblasts from patients with the polycystic ovary syndrome. J Clin Endocrinol Metab. 2000 Nov;85(11):4338–4346.doi:10.1210/jcem.85.11.6971. [PubMed]
155. Gambineri A, Vicennati V, Genghini S, et al. Genetic variation in 11?-hydroxysteroid dehydrogenase type 1 predicts adrenal hyperandrogenism among lean women with polycystic ovary syndrome. J Clin Endocrinol Metab. 2006;91:2295–2302. https://doi.org/10.1210/jc.2005-2222 [PubMed]
156. White PC. Genotypes at 11beta-hydroxysteroid dehydrogenase type 11B1 and hexose 6-phosphate dehydrogenase loci are not risk factors for apparent cortisone reductase deficiency in a large population-based sample. J Clin Endocrinol Metab. 2005;90:5880–5883. https://doi.org/10.1210/jc.2005-0942 [PubMed]
157. San Millan JL, Botella-Carretero JI, Alvarez-Blasco F, et al. A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11?-hydroxysteroid dehydrogenase type 1 gene 83557insA polymorphisms in the polycystic ovary syndrome. J Clin Endocrinol Metab. 2005;90:4157–4162. https://doi.org/10.1210/jc.2004-1523. [PubMed]
158. Sahut-Barnola I, de Joussineau C, Val P, et al. Cushing's syndrome and fetal features resurgence in adrenal cortex-specific Prkar1a knockout mice. PLoS Genet. 2010 Jun 10;6(6):e1000980. doi: 10.1371/journal.pgen.1000980. [PMC free article][PubMed]
159. Guven M, Acbay O, Sultuybek G. Glucocorticoid receptors on mononuclear leukocytes in polycystic ovary syndrome. Int J Gynaecol Obstet. 1998 Oct;63(1):33–37. doi: 10.1016/S0020-7292(98)00126-X. [PubMed]
160. Milutinovic DV, Macut D, Bozic I, Nestorov J, Damjanovic S, Matic G. Hypothalamic-pituitary-adrenocortical axis hypersensitivity and glucocorticoid receptor expression and function in women with polycystic ovary syndrome. Exp Clin Endocrinol Diabetes. 2011 Nov;119(10):636–643. doi: 10.1055/s-0031-1283122. [PubMed]
161. Stratakis CA. Adrenocortical tumors, primary pigmented adrenocortical disease (PPNAD)/Carney complex, and other bilateral hyperplasias: the NIH studies. Horm Metab Res. 2007 Jun;39(6):467–473. doi: 10.1055/s-2007-981477. [PubMed]
162. Wajchenberg BL, Achando SS, Okada H, et al. Determination of the source(s) of androgen overproduction in hirsutism associated with polycystic ovary syndrome by simultaneous adrenal and ovarian venous catheterization. Comparison with the dexamethasone suppression test. J Clin Endocrinol Metab. 1986 Nov;63(5):1204–1210. doi: 10.1210/jcem-63-5-1204 [PubMed]
163. Kirschner MA, Jacobs JB. Combined ovarian and adrenal vein catheterization to determine the site(s) of androgen overproduction in hirsute women. J Clin Endocrinol Metab. 1971 Aug;33(2):199–209. doi: 10.1210/jcem-33-2-199 [PubMed]
164. Kaltsas GA, Isidori AM, Kola BP, et al. The value of the low-dose dexamethasone suppression test in the differential diagnosis of hyperandrogenism in women. J Clin Endocrinol Metab. 2003 Jun;88(6):2634–2643. doi: 10.1210/jc.2002-020922 [PubMed]
165. Gourgari E, et al. Bilateral Adrenal Hyperplasia as a Possible Mechanism for Hyperandrogenism in Women With Polycystic Ovary Syndrome. J Clin Endocrinol Metab. 2016 Sep; 101(9): 3353–3360. doi: 10.1210/jc.2015-4019
166. Vassiliadi DA, Ntali G, Stratigou T, Adali M & Tsagarakis S. Aberrant cortisol responses to physiological stimuli in patients presenting with bilateral adrenal incidentalomas. Endocrine 2011 Dec;40(3):437–444. doi: 10.1007/s12020-011-9490-1 [PubMed] [Cross Ref]
167. Wada S, Kitahama S, Togashi A, Inoue K, Iitaka M & Katayama S. Preclinical Cushing's syndrome due to ACTH-independent bilateral macronodular adrenocortical hyperplasia with excessive secretion of 18-hydroxydeoxycorticosterone and corticosterone. Internal Medicine 2002 Apr;41(4):304–308. [PubMed] [Cross Ref]
168. Spath M, Korovkin S, Antke C, Anlauf M, Willenberg HS. Aldosterone- and cortisol-co-secreting adrenal tumors: the lost subtype of primary aldosteronism. Eur J Endocrinol. 2011 Apr;164(4):447–455. doi: 10.1530/EJE-10-1070 [PubMed]
169. Honda T, Nakamura T, Saito Y, Ohyama Y, Sumino H, Kurabayashi M. Combined primary aldosteronism and preclinical Cushing's syndrome: an unusual case presentation of adrenal adenoma. Hypertens Res. 2001 Nov;24(6):723–726. https://doi.org/10.1291/hypres.24.723 [PubMed]
170. Kidambi S, Kotchen JM, Grim CE, et al. Association of adrenal steroids with hypertension and the metabolic syndrome in blacks. Hypertension. 2007 Mar;49(3):704–711. doi: 10.1161/01.HYP.0000253258.36141.c7 [PubMed]
171. Peppa M, Pikounis V, Papaxoinis G, et al. Adrenocortical carcinoma secreting cortisol, androgens and aldosterone: a case report. Cases J. 2009;2:8951. doi: 10.4076/1757-1626-2-8951 [PMC free article] [PubMed]
172. Rocchini AP, Katch VL, Grekin R, Moorehead C, Anderson J. Role for aldosterone in blood pressure regulation of obese adolescents. Am J Cardiol. 1986 Mar 1;57(8):613–618. https://doi.org/10.1016/0002-9149(86)90845-3 [PubMed]
173. Chang SP, Morrison HD, Nilsson F, Kenyon CJ, West JD, Morley SD. Cell proliferation, movement and differentiation during maintenance of the adult mouse adrenal cortex. PLoS One. 2013 Dec 4;8(12):e81865. doi: 10.1371/journal.pone.0081865 [PMC free article] [PubMed]
174. Freedman BD, Kempna PB, Carlone DL, et al. Adrenocortical zonation results from lineage conversion of differentiated zona glomerulosa cells. Dev Cell. 2013 Sep 30;26(6):666–673. doi: 10.1016/j.devcel.2013.07.016 [PMC free article] [PubMed]
175. Zilbermint M, et al. Primary Aldosteronism and ARMC5 Variants. J Clin Endocrinol Metab. 2015 Jun; 100(6): E900–E909. doi: 10.1210/jc.2014-4167
176. Grumbach MM, Biller BM, Braunstein GD, et al. Management of the clinically inapparent adrenal mass (“incidentaloma”). Ann Intern Med. 2003 Mar 4;138(5):424–429. doi: 10.7326/0003-4819-138-5-200303040-00013 [PubMed]
177. Stratakis CA, Sarlis N, Kirschner LS, Carney JA, Doppman JL, Nieman LK, Chrousos GP, Papanicolaou DA. Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease. Ann Intern Med 1999 Oct 19; 131(8):585–591 [PubMed]
178. Batista DL, Riar J, Keil M, Stratakis CA. Diagnostic tests for children who are referred for the investigation of Cushing syndrome. Pediatrics. 2007 Sep;120(3):e575–e586. doi: 10.1542/peds.2006-2402 [PubMed]
179. Stratakis CA. New genes and/or molecular pathways associated with adrenal hyperplasias and related adrenocortical tumors. Mol Cell Endocrinol. 2009 Mar 5;300(1-2):152–157. doi: 10.1016/j.mce.2008.11.010 [PMC free article] [PubMed]
180. Powell AC, Stratakis CA, Patronas NJ, Steinberg SM, Batista D, Alexander HR, Pingpank JF, Keil M, Bartlett DL, Libutti SK. Operative management of Cushing syndrome secondary to micronodular adrenal hyperplasia. Surgery 2008 Jun 143(6):750–758. doi: 10.1016/j.surg.2008.03.022. [PMC free article] [PubMed]
181. Newell-Price J, Trainer P, Besser M, Grossman A. The diagnosis and differential diagnosis of Cushing’s syndrome and pseudo-Cushing’s states. Endocr Rev. 1998 Oct;19(5):647–672. doi: 10.1210/edrv.19.5.0346 [PubMed]
182. Hoshiro M, Ohno Y, Masaki H, Iwase H, Aoki N. Comprehensive study of urinary cortisol metabolites in hyperthyroid and hypothyroid patients. Clin Endocrinol (Oxf). 2006 Jan;64(1):37–45 doi: 10.1111/j.1365-2265.2005.02412.x [PubMed]
183. Briggs MH, Christie GA. Advances in steroid biochemistry and pharmacology. In. London and New York: Academic Press; 1972;75–77
184. Tatsuno I, Uchida D, Tanaka T, Koide H, Shigeta A, Ichikawa T, Sasano H, Saito Y. Vasopressin responsiveness of subclinical Cushing’s syndrome due to ACTH-independent macronodular adrenocortical hyperplasia. Clin Endocrinol (Oxf). 2004 Feb;60(2):192–200 doi: 10.1046/j.1365-2265.2003.01963.x [PubMed]
185. Lee S, Hwang R, Lee J, Rhee Y, Kim DJ, Chung UI, Lim SK. Ectopic expression of vasopressin V1b and V2 receptors in the adrenal glands of familial ACTH-independent macronodular adrenal hyperplasia. Clin Endocrinol (Oxf). 2005 Dec;63(6):625–630 doi: 10.1111/j.1365-2265.2005.02387.x [PubMed]
186. Bourdeau I. Clinical and molecular genetic studies of bilateral adrenal hyperplasias. Endocr Res. 2004 Nov 30(4):575–583 https://doi.org/10.1081/ERC-200043735 [PubMed]
187. Pozza C, Graziadio C, Giannetta E, Lenzi A, Isidori AM. Management strategies for aggressive cushing’s syndrome: from macroadenomas to ectopics. J Oncol. 2012;2012:685213. doi: 10.1155/2012/685213. [PMC free article] [PubMed] [Cross Ref]
188. Doppman JL, Nieman LK, Travis WD, Miller DL, Cutler GB Jr, Chrousos GP, Norton JA: CT and MR imaging of massive macronodular adrenocortical disease: A rare cause of autonomous primary adrenal hypercortisolism. J Comput Assist Tomogr 1991 Sep-Oct;15(5):773–779.
189. Rockall AG, Babar SA, Sohaib SA, Isidori AM, Diaz-Cano S, Monson JP, Grossman AB, Reznek RH: CT and MR imaging of the adrenal glands in ACTH-independent Cushing syndrome. Radiographics 2004;24:435–452. https://doi.org/10.1148/rg.242035092
190. Aiba M, Kawakami M, Ito Y, Fujimoto Y, Suda T, Demura H: Bilateral adrenocortical adenomas causing Cushing’s syndrome. Report of two cases with enzyme histochemical and ultrastructural studies and a review of the literature. Arch Pathol Lab Med 1992 Feb;116(2):146–150.
191. Cugini P, Battisti P, Di Palma L, Sepe M, Kawasaki T, Uezono K, Sasaki H: ‘GIANT’ macronodular adrenal hyperplasia causing Cushing’s syndrome: Case report and review of the literature on a clinical distinction of adrenocortical nodular pathology associated with hypercortisolism. Endocrinol Jpn 1989 Feb;36(1):101–116. doi: 10.1507/endocrj1954.36.101 [PubMed]
192. Ogura M, Kusaka I, Nagasaka S, Yatagai T, Shinozaki S, Itabashi N, Nakamura T, Yokoyama M, Ishikawa SE, Ishibashi S: Unilateral adrenalectomy improves insulin resistance and diabetes mellitus in a patient with ACTH-independent macronodular adrenal hyperplasia. Endocr J 2003 Dec;50(6):715–721.
193. Boronat M, Lucas T, Barcelo B, Alameda C, Hotait H, Estrada J. Cushing’s syndrome due to autonomous macronodular adrenal hyperplasia: long-term follow-up after unilateral adrenalectomy. Postgrad Med J. 1996 Oct;72(852):614–616. doi: 10.1136/pgmj.72.852.614. [PMC free article] [PubMed][Cross Ref]
194. Lamas C, Alfaro JJ, Lucas T, Lecumberri B, Barcelo B, Estrada J: Is unilateral adrenalectomy an alternative treatment for ACTH- independent macronodular adrenal hyperplasia? Long-term follow-up of four cases. Eur J Endocrinol 2002 Feb;146(2):237–240.
195. Reincke M: Subclinical Cushing’s syndrome. Endocrinol Metab Clin North Am 2000 Mar;29(1):43–56.
196. Preumont V, Mermejo LM, Damoiseaux P, Lacroix A & Maiter D. Transient efficacy of octreotide and pasireotide (SOM230) treatment in GIP-dependent Cushing's syndrome. Hormone and Metabolic Research 2011 Apr;43(4)287–291. doi: 10.1055/s-0030-1270523 [PubMed] [Cross Ref]
197. Yared Z, Bourdeau I, Lacroix A: Failure to control Cushing’s syndrome with leuprolide acetate in a case of ACTH-independent bilateral macronodular adrenal hyperplasia with partial regulation of cortisol secretion by LH and hCG (abstract). 84th Meeting of the Endocrine Society, San Francisco, 2002, p 649.
198. Arteaga E, Mahana D, Gonzalez R, Martinez P: Cushing syndrome caused by macronodular adrenal hyperplasia, independent of ACTH: Report of a case (in Spanish). Rev Med Chil 1989 Dec;117(12):1398–1402.
199. Lopez JM, Sapunar J, Donoso J, Martinez P: Cushing’s syndrome due to bilateral adrenal macronodular hyperplasia. From ACTH-dependent hypercortisolism to ACTH-independent hypercortisolism (in Spanish). Rev Med Chil 1991 Oct;119(10):1165–1170.
200. Nagai M, Narita I, Omori K, Komura S, Arakawa M: Adrenocorticotropic hormone-independent bilateral adrenocortical macronodular hyperplasia treated with mitotan. Intern Med. 1999 Dec;38(12):969-73
201. Obata Y, Yamada Y, Baden MY, Hosokawa Y, Saisho K, Tamba S, Yamamoto K & Matsuzawa Y. Long-term efficacy of trilostane for Cushing's syndrome due to adrenocorticotropin-independent bilateral macronodular adrenocortical hyperplasia. Internal Medicine 2011;50(21):2621–2625 doi: 10.2169/internalmedicine.50.5578 [PubMed] [Cross Ref]
202. Verhelst JA, Trainer PJ, Howlett TA, Perry L, Rees LH, Grossman AB, Wass JA & Besser GM. Short and long-term responses to metyrapone in the medical management of 91 patients with Cushing's syndrome. Clinical Endocrinology (Oxf) 1991 Aug 35(2):169–178 doi: 10.1111/j.1365-2265.1991.tb03517.x [PubMed] [Cross Ref]
203. Omori N, Nomura K, Omori K, Takano K & Obara T. Rational, effective metyrapone treatment of ACTH-independent bilateral macronodular adrenocortical hyperplasia (AIMAH). Endocrine Journal 2001 Dec;48(6)665–669 doi: 10.1507/endocrj.48.665 [PubMed] [Cross Ref]
204. Yoshida M, Umeda H, Iwama S, Nakayama S, Miyata M, Ogawa K, Maeda H & Oiso Y. Assessment of long-term efficacy and safety of metyrapone monotherapy in a patient with ACTH-independent macronodular adrenal hyperplasia. Endocrine 2012 Feb; 41(1)160–161 doi: 10.1007/s12020-011-9549-z [PubMed] [Cross Ref]
205. Sonino N. The use of ketoconazole as an inhibitor of steroid production. New England Journal of Medicine 1987 Sep 24;317(13)812–818 doi: 10.1056/NEJM198709243171307 [PubMed] [Cross Ref]
206. Feelders RA, Hofland LJ & de Herder WW. Medical treatment of Cushing's syndrome: adrenal-blocking drugs and ketaconazole. Neuroendocrinology. 2010;92 (Suppl 1):111-5. doi: 10.1159/000314292 [PubMed] [Cross Ref].
207. Plotz CM, Knowlton AI, Ragan C. The natural history of Cushing's syndrome. Am J Med. 1952 Nov;13(5):597–614. doi: https://doi.org/10.1016/0002-9343(52)90027-2 [PubMed]
208. Cushing H. The basophil adenomas of the pituitary body and their clinical manifestations (pituitary basophilism). 1932. Obes Rec 1994 Sep;2(5):486–508. doi: 10.1002/j.1550-8528.1994.tb00097.x
209. Swearingen B, Biller BM, Barker FG, 2nd, et al. Long-term mortality after transsphenoidal surgery for Cushing disease. Ann Intern Med. 1999 May;130(10):821–824. doi: 10.7326/0003-4819-130-10-199905180-00015 [PubMed]
210. Hammer GD, Tyrrell JB, Lamborn KR, et al. Transsphenoidal microsurgery for Cushing's disease: initial outcome and long-term results. J Clin Endocrinol Metab. 2004 Dec;89(12):6348–6357. doi: 10.1210/jc.2003-032180 [PubMed]
211. Lindholm J, Juul S, Jorgensen JO, et al. Incidence and late prognosis of Cushing's syndrome: a population-based study. J Clin Endocrinol Metab. 2001 Jan;86(1):117–123. doi: 10.1210/jcem.86.1.7093. [PubMed]
212. Clayton RN, Raskauskiene D, Reulen RC, Jones PW. Mortality and morbidity in Cushing's disease over 50 years in Stoke-on-Trent, UK: audit and meta-analysis of literature. J Clin Endocrinol Metab. 2011 Mar;96(3):632–642. doi: 10.1210/jc.2010-1942 [PubMed]
213. Lindsay JR, Nansel T, Baid S, Gumowski J, Nieman LK. Long-term impaired quality of life in Cushing's syndrome despite initial improvement after surgical remission. J Clin Endocrinol Metab. 2006 Feb;91(2):447–453. doi: 10.1210/jc.2005-1058 [PubMed]
214. Osswald A, Plomer E, Dimopoulou C, et al. Favorable long-term outcomes of bilateral adrenalectomy in Cushing's disease. Eur J Endocrinol. 2014 Aug;171(2):209–215. doi: 10.1530/EJE-14-0214 [PubMed]
215. Avgerinos PC, Chrousos GP, Nieman LK, Oldfield EH, Loriaux DL, Cutler GB Jr The corticotropin-releasing hormone test in the postoperative evaluation of patients with Cushing's syndrome. J Clin Endocrinol Metab. 1987 Nov;65(5):906–913. doi: 10.1210/jcem-65-5-906 [PubMed]
216. Hochberg Z, Pacak K, Chrousos GP. Endocrine withdrawal syndromes. Endocr Rev. 2003 Aug;24(4):523–538. doi: 10.1210/er.2001-0014 [PubMed]
217. Dorn LD, Burgess ES, Friedman TC, Dubbert B, Gold PW, Chrousos GP. The longitudinal course of psychopathology in Cushing's syndrome after correction of hypercortisolism. J Clin Endocrinol Metab. 1997 Mar;82(3):912–919. doi: 10.1210/jcem.82.3.3834 [PubMed]
218. Dixon RB, Christy NP. On the various forms of corticosteroid withdrawal syndrome. Am J Med. 1980 Feb;68(2):224–230. doi: https://doi.org/10.1016/0002-9343(80)90358-7 [PubMed]
219. Assie G, Bahurel H, Coste J, et al. Corticotroph tumor progression after adrenalectomy in Cushing's disease: a reappraisal of Nelson's syndrome. J Clin Endocrinol Metab. 2007 Jan;92(1):172–179. doi: 10.1210/jc.2006-1328 [PubMed]
Авторы
Киселева Татьяна Петровна
Д.м.н., профессор, профессор кафедры факультетской терапии и
эндокринологии
kistapet@mail.ru
Чжен Татьяна Романовна
Заочный аспирант кафедры факультетской терапии и эндокринологии
doctortr@mail.ru
Уральский государственный медицинский университет
Российская Федерация, 620000, г. Екатеринбурга, ул. Репина, 3