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Volumn 99, Issue 9, 2014, Pages E1784-E1792

ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia

(16)  Gagliardi, Lucia a,b   Schreiber, Andreas W a,b   Hahn, Christopher N a,b   Feng, Jinghua a,b   Cranston, Treena c   Boon, Hannah c   Hotu, Cheri e   Oftedal, Bergithe E a,f   Cutfield, Richard g   Adelson, David L b   Braund, Wilton J h   Gordon, Richard D i,j   Rees, D Aled k   Grossman, Ashley B d   Torpy, David J a,b   Scott, Hamish S a,b  


Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; HYDROCORTISONE; VASOPRESSIN; ARMC5 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

EID: 84907199509     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-1265     Document Type: Article
Times cited : (104)

References (33)
  • 1
    • 0000809775 scopus 로고
    • Cushing's syndrome: Nodular cortical hyperplasia of adrenal glands with clinical and pathological features suggesting adrenocortical tumour
    • Kirschner MA, Powell Jr RD, Lipsett MB. Cushing's syndrome: Nodular cortical hyperplasia of adrenal glands with clinical and pathological features suggesting adrenocortical tumour. J Clin Endocrinol (Oxf). 1964;24:947-955.
    • (1964) J Clin Endocrinol (Oxf). , vol.24 , pp. 947-955
    • Kirschner, M.A.1    Powell, R.D.2    Lipsett, M.B.3
  • 2
    • 66549118068 scopus 로고    scopus 로고
    • ACTH-independent macronodular adrenal hyperplasia
    • Lacroix A. ACTH-independent macronodular adrenal hyperplasia. Best Pract Res Clin Endocrinol Metab. 2009;23:245-259.
    • (2009) Best Pract Res Clin Endocrinol Metab. , vol.23 , pp. 245-259
    • Lacroix, A.1
  • 3
    • 0026756184 scopus 로고
    • Gastric inhibitory polypeptidedependent cortisol hypersecretion-A new cause of Cushing's syndrome
    • Lacroix A, Bolté E, Tremblay J, et al. Gastric inhibitory polypeptidedependent cortisol hypersecretion-a new cause of Cushing's syndrome. N Engl J Med. 1992;327:974-980.
    • (1992) N Engl J Med. , vol.327 , pp. 974-980
    • Lacroix, A.1    Bolté, E.2    Tremblay, J.3
  • 4
    • 0026701151 scopus 로고
    • Food-dependent Cushing's syndrome mediated by aberrant adrenal sensitivity to gastric inhibitory polypeptide
    • Reznik Y, Allali-Zerah V, Chayvialle JA, et al. Food-dependent Cushing's syndrome mediated by aberrant adrenal sensitivity to gastric inhibitory polypeptide. N Engl J Med. 1992;327:981-986.
    • (1992) N Engl J Med. , vol.327 , pp. 981-986
    • Reznik, Y.1    Allali-Zerah, V.2    Chayvialle, J.A.3
  • 5
    • 0030833690 scopus 로고    scopus 로고
    • 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
    • Lacroix A, Tremblay J, Touyz RM, et al. 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.
    • (1997) J Clin Endocrinol Metab. , vol.82 , pp. 2414-2422
    • Lacroix, A.1    Tremblay, J.2    Touyz, R.M.3
  • 6
    • 0029080774 scopus 로고
    • Lysine vasopressin stimulation of cortisol secretion in patients with adrenocorticotropin-independent macronodular adrenal hyperplasia
    • Horiba N, Suda T, Aiba M, et al. Lysine vasopressin stimulation of cortisol secretion in patients with adrenocorticotropin-independent macronodular adrenal hyperplasia. J Clin Endocrinol Metab. 1995; 80:2336-2341.
    • (1995) J Clin Endocrinol Metab. , vol.80 , pp. 2336-2341
    • Horiba, N.1    Suda, T.2    Aiba, M.3
  • 7
    • 15644369963 scopus 로고    scopus 로고
    • Variable expression of the V1 vasopressin receptor modulates the phenotypic response of steroid- secreting adrenocortical tumors
    • Arnaldi G, Gasc JM, de Keyzer Y, et al. Variable expression of the V1 vasopressin receptor modulates the phenotypic response of steroid- secreting adrenocortical tumors. J Clin Endocrinol Metab. 1998;83:2029-2035.
    • (1998) J Clin Endocrinol Metab. , vol.83 , pp. 2029-2035
    • Arnaldi, G.1    Gasc, J.M.2    De Keyzer, Y.3
  • 8
    • 0036999352 scopus 로고    scopus 로고
    • Inherited adrenocorticotropin- independent macronodular adrenal hyperplasia with abnormal cortisol secretion by vasopressin and catecholamines: Detection of the aberrant hormone receptors on adrenal gland
    • 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;19:319-325.
    • (2002) Endocrine. , vol.19 , pp. 319-325
    • Miyamura, N.1    Taguchi, T.2    Murata, Y.3
  • 9
    • 28844465395 scopus 로고    scopus 로고
    • Ectopic expression of vasopressin V1b and V2 receptors in the adrenal glands of familial ACTH-independent macronodular adrenal hyperplasia
    • Lee S, Hwang R, Lee J, et al. Ectopic expression of vasopressin V1b and V2 receptors in the adrenal glands of familial ACTH-independent macronodular adrenal hyperplasia. Clin Endocrinol (Oxf). 2005;63:625-630.
    • (2005) Clin Endocrinol (Oxf). , vol.63 , pp. 625-630
    • Lee, S.1    Hwang, R.2    Lee, J.3
  • 10
    • 0030683972 scopus 로고    scopus 로고
    • Propranolol therapy for ectopic α-adrenergic receptors in adrenal Cushing's syndrome
    • Lacroix A, Tremblay J, Rousseau G, Bouvier M, Hamet P. Propranolol therapy for ectopic α-adrenergic receptors in adrenal Cushing's syndrome. N Engl J Med. 1997;337:1429-1434.
    • (1997) N Engl J Med. , vol.337 , pp. 1429-1434
    • Lacroix, A.1    Tremblay, J.2    Rousseau, G.3    Bouvier, M.4    Hamet, P.5
  • 11
    • 0033015838 scopus 로고    scopus 로고
    • Clinical evaluation of the presence of abnormal hormone receptors in adrenal Cushing's syndrome
    • Lacroix A, Mircescu H, Hamet P. Clinical evaluation of the presence of abnormal hormone receptors in adrenal Cushing's syndrome. Endocrinologist. 1999;9:9-15.
    • (1999) Endocrinologist. , vol.9 , pp. 9-15
    • Lacroix, A.1    Mircescu, H.2    Hamet, P.3
  • 12
    • 0037622835 scopus 로고    scopus 로고
    • Intraadrenal adrenocorticotropin production in a case of bilateral macronodular adrenal hyperplasia causing Cushing's syndrome
    • Lefebvre H, Duparc C, Chartrel N, et al. Intraadrenal adrenocorticotropin production in a case of bilateral macronodular adrenal hyperplasia causing Cushing's syndrome. J Clin Endocrinol Metab. 2003;88:3035-3042.
    • (2003) J Clin Endocrinol Metab. , vol.88 , pp. 3035-3042
    • Lefebvre, H.1    Duparc, C.2    Chartrel, N.3
  • 13
    • 38849184066 scopus 로고    scopus 로고
    • Cellular and molecular abnormalities of a macronodular adrenal hyperplasia causing betablocker- sensitive Cushing's syndrome
    • Mazzuco TL, Thomas M, Martinie M, et al. Cellular and molecular abnormalities of a macronodular adrenal hyperplasia causing betablocker- sensitive Cushing's syndrome. Arq Bras Endocrinol Metab. 2007;51:1452-1462.
    • (2007) Arq Bras Endocrinol Metab. , vol.51 , pp. 1452-1462
    • Mazzuco, T.L.1    Thomas, M.2    Martinie, M.3
  • 14
    • 84888351647 scopus 로고    scopus 로고
    • Intraadrenal corticotropin in bilateral macronodular adrenal hyperplasia
    • Louiset E, Duparc C, Young J, et al. Intraadrenal corticotropin in bilateral macronodular adrenal hyperplasia. N Engl J Med. 2013; 369:2115-2125.
    • (2013) N Engl J Med. , vol.369 , pp. 2115-2125
    • Louiset, E.1    Duparc, C.2    Young, J.3
  • 15
    • 0033322615 scopus 로고    scopus 로고
    • Asynchronous development of bilateral nodular adrenal hyperplasia in gastric inhibitory polypeptide-dependent Cushing's syndrome
    • 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;84:2616-2622.
    • (1999) J Clin Endocrinol Metab. , vol.84 , pp. 2616-2622
    • N'Diaye, N.1    Hamet, P.2    Tremblay, J.3    Boutin, J.M.4    Gaboury, L.5    Lacroix, A.6
  • 16
    • 0028246862 scopus 로고
    • ACTH-independent massive bilateral adrenal disease (AIMBAD): A subtype of Cushing's syndrome with major diagnostic and therapeutic implications
    • 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.
    • (1994) Eur J Endocrinol. , vol.131 , pp. 67-73
    • Lieberman, S.A.1    Eccleshall, T.R.2    Feldman, D.3
  • 17
    • 0031955228 scopus 로고    scopus 로고
    • Corticotropin-independent macronodular adrenal hyperplasia: A clinicopathologic correlation
    • discussion 545-546
    • Swain JM, Grant CS, Schlinkert RT, et al. Corticotropin-independent macronodular adrenal hyperplasia: a clinicopathologic correlation. Arch Surg. 1998;133:541-545; discussion 545-546.
    • (1998) Arch Surg. , vol.133 , pp. 541-545
    • Swain, J.M.1    Grant, C.S.2    Schlinkert, R.T.3
  • 18
    • 79951719798 scopus 로고    scopus 로고
    • Clinical, biochemical, and molecular characterization of macronodular adrenocortical hyperplasia of the zona reticularis: A new syndrome
    • Ghayee HK, Rege J, Watumull LM, et al. Clinical, biochemical, and molecular characterization of macronodular adrenocortical hyperplasia of the zona reticularis: a new syndrome. J Clin Endocrinol Metab. 2011;96:E243-E250.
    • (2011) J Clin Endocrinol Metab. , vol.96 , pp. E243-E250
    • Ghayee, H.K.1    Rege, J.2    Watumull, L.M.3
  • 19
    • 0037238245 scopus 로고    scopus 로고
    • Virilization in bilateral macronodular adrenal hyperplasia controlled by luteinizing hormone
    • Goodarzi MO, Dawson DW, Li X, et al. Virilization in bilateral macronodular adrenal hyperplasia controlled by luteinizing hormone. J Clin Endocrinol Metab. 2003;88:73-77.
    • (2003) J Clin Endocrinol Metab. , vol.88 , pp. 73-77
    • Goodarzi, M.O.1    Dawson, D.W.2    Li, X.3
  • 20
    • 0024554220 scopus 로고
    • Adrenocorticotropin-independent bilateral macronodular adrenal hyperplasia: An unusual cause of Cushing's syndrome
    • Malchoff CD, Rosa J, DeBold CR, et al. Adrenocorticotropin-independent bilateral macronodular adrenal hyperplasia: an unusual cause of Cushing's syndrome. J Clin Endocrinol Metab. 1989;68: 855-860.
    • (1989) J Clin Endocrinol Metab. , vol.68 , pp. 855-860
    • Malchoff, C.D.1    Rosa, J.2    Debold, C.R.3
  • 21
    • 0027455051 scopus 로고
    • Familial Adrenocorticotropin- Independent Cushing's Syndrome with bilateral macronodular adrenal hyperplasia
    • Findlay JC, Sheeler LR, Engeland WC, Aron DC. Familial Adrenocorticotropin- Independent Cushing's Syndrome with bilateral macronodular adrenal hyperplasia. J Clin Endocrinol Metab. 1993; 76:189-191.
    • (1993) J Clin Endocrinol Metab. , vol.76 , pp. 189-191
    • Findlay, J.C.1    Sheeler, L.R.2    Engeland, W.C.3    Aron, D.C.4
  • 22
    • 0029886426 scopus 로고    scopus 로고
    • ACTH independent Cushing's syndrome occurring in siblings
    • Minami S, Sughihara H, Sato J, et al. ACTH independent Cushing's syndrome occurring in siblings. Clin Endocrinol (Oxf). 1996;44: 483-488.
    • (1996) Clin Endocrinol (Oxf). , vol.44 , pp. 483-488
    • Minami, S.1    Sughihara, H.2    Sato, J.3
  • 23
    • 0036711353 scopus 로고    scopus 로고
    • Familial ACTH-independent Cushing's syndrome with bilateral macronodular adrenal hyperplasia clinically affecting only female family members
    • Nies C, Bartsch DK, Ehlenz K, et al. Familial ACTH-independent Cushing's syndrome with bilateral macronodular adrenal hyperplasia clinically affecting only female family members. Exp Clin Endocrinol Diabetes. 2002;110:277-283.
    • (2002) Exp Clin Endocrinol Diabetes. , vol.110 , pp. 277-283
    • Nies, C.1    Bartsch, D.K.2    Ehlenz, K.3
  • 24
    • 33847701740 scopus 로고    scopus 로고
    • Familial adrenocorticotropinindependent macronodular adrenal hyperplasia with aberrant serotonin and vasopressin adrenal receptors
    • Vezzosi D, Cartier D, Régnier C, et al. Familial adrenocorticotropinindependent macronodular adrenal hyperplasia with aberrant serotonin and vasopressin adrenal receptors. Eur J Endocrinol. 2007; 156:21-31.
    • (2007) Eur J Endocrinol. , vol.156 , pp. 21-31
    • Vezzosi, D.1    Cartier, D.2    Régnier, C.3
  • 25
    • 66149179265 scopus 로고    scopus 로고
    • Familial vasopressin-sensitive ACTH-independent macronodular adrenal hyperplasia (VPs-BMAH): Clinical studies of three kindreds
    • Gagliardi L, Hotu C, Casey G, et al. Familial vasopressin-sensitive ACTH-independent macronodular adrenal hyperplasia (VPs-BMAH): clinical studies of three kindreds. Clin Endocrinol (Oxf). 2009;70:883-891.
    • (2009) Clin Endocrinol (Oxf). , vol.70 , pp. 883-891
    • Gagliardi, L.1    Hotu, C.2    Casey, G.3
  • 26
    • 84888310600 scopus 로고    scopus 로고
    • ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome
    • Assié G, Libé R, Espiard S, et al. ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome. N Engl J Med. 2013;369:2105-2114.
    • (2013) N Engl J Med. , vol.369 , pp. 2105-2114
    • Assié, G.1    Libé, R.2    Espiard, S.3
  • 27
    • 84902308432 scopus 로고    scopus 로고
    • Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: A clinical and genetic investigation
    • 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(6):E1113-E1119.
    • (2014) J Clin Endocrinol Metab. , vol.99 , Issue.6 , pp. E1113-E1119
    • Faucz, F.R.1    Zilbermint, M.2    Lodish, M.B.3
  • 28
    • 0026005630 scopus 로고
    • Adrenocorticotropic hormoneindependent 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
    • Aiba M, Hirayama A, Iri H, et al. Adrenocorticotropic hormoneindependent 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;96:334-340.
    • (1991) Am J Clin Pathol. , vol.96 , pp. 334-340
    • Aiba, M.1    Hirayama, A.2    Iri, H.3
  • 29
    • 67650257690 scopus 로고    scopus 로고
    • Role of unilateral adrenalectomy in bilateral primary aldosteronism: A 22-year single center experience
    • Sukor N, Gordon RD, Ku YK, Jones M, Stowasser M. Role of unilateral adrenalectomy in bilateral primary aldosteronism: a 22-year single center experience. J Clin Endocrinol Metab. 2009;94:2437-2445.
    • (2009) J Clin Endocrinol Metab. , vol.94 , pp. 2437-2445
    • Sukor, N.1    Gordon, R.D.2    Ku, Y.K.3    Jones, M.4    Stowasser, M.5
  • 30
    • 68549109424 scopus 로고    scopus 로고
    • 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
    • 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.
    • (2009) J Clin Endocrinol Metab. , vol.94 , pp. 2930-2937
    • Hsiao, H.P.1    Kirschner, L.S.2    Bourdeau, I.3
  • 31
    • 33846242137 scopus 로고    scopus 로고
    • Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population
    • Horvath A, Giatzakis C, Robinson-White A, et al. Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population. Cancer Res. 2006;66:11571-11575.
    • (2006) Cancer Res. , vol.66 , pp. 11571-11575
    • Horvath, A.1    Giatzakis, C.2    Robinson-White, A.3
  • 32
    • 84905828393 scopus 로고    scopus 로고
    • ARMC5 mutations are a frequent cause of primary macronodular adrenal hyperplasia [published online April 7, 2014]
    • Alencar GA, Lerario AM, Nishi MY, et al. ARMC5 mutations are a frequent cause of primary macronodular adrenal hyperplasia [published online April 7, 2014]. J Clin Endocrinol Metab. doi: 10.1210/jc.2013-4237.
    • J Clin Endocrinol Metab.
    • Alencar, G.A.1    Lerario, A.M.2    Nishi, M.Y.3


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