Maladies rares de la surrénale

1: Crona J, Baudin E, Terzolo M, Chrisoulidou A, Angelousi A, Ronchi CL,

Oliveira CL, Nieveen van Dijkum EJM, Ceccato F, Borson-Chazot F, Reimondo G,

Tiberi GAM, Ettaieb H, Kiriakopoulos A, Canu L, Kastelan D, Osher E,

Yiannakopoulou E, Arnaldi G, Assié G, Paiva I, Bourdeau I, Newell-Price J, Nowak

KM, Romero MT, De Martino MC, Bugalho MJ, Sherlock M, Vantyghem MC, Dennedy MC, Loli P, Rodien P, Feelders R, de Krijger R, Van Slycke S, Aylwin S, Morelli V,

Vroonen L, Shafigullina Z, Bancos I, Trofimiuk-Müldner M, Quinkler M, Luconi M,

Kroiss M, Naruse M, Igaz P, Mihai R, Della Casa S, Berruti A, Fassnacht M,

Beuschlein F. ENSAT registry-based randomized clinical trials for adrenocortical

carcinoma. Eur J Endocrinol. 2021 Feb;184(2):R51-R59. doi: 10.1530/EJE-20-0800.

PMID: 33166271.

 

2: Espiard S, Vantyghem MC, Assié G, Cardot-Bauters C, Raverot G, Brucker-Davis

F, Archambeaud-Mouveroux F, Lefebvre H, Nunes ML, Tabarin A, Lienhardt A, Chabre

O, Houang M, Bottineau M, Stroër S, Groussin L, Guignat L, Cabanes L, Feydy A,

Bonnet F, North MO, Dupin N, Grabar S, Duboc D, Bertherat J. Frequency and

Incidence of Carney Complex Manifestations: A Prospective Multicenter Study With

a Three-Year Follow-Up. J Clin Endocrinol Metab. 2020 Mar 1;105(3):dgaa002. doi:

10.1210/clinem/dgaa002. PMID: 31912137.

 

3 :Espiard S, Drougat L, Settas N, Haydar S, Bathon K, London E, Levy I, Faucz
FR, Calebiro D, Bertherat J, Li D, Levine MA, Stratakis CA. PRKACB variants in
skeletal disease or adrenocortical hyperplasia: effects on protein kinase A.
Endocr Relat Cancer. 2020 Nov;27(11):647-656. doi: 10.1530/ERC-20-0309. PMID:
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4: Faillot S, Foulonneau T, Néou M, Espiard S, Garinet S, Vaczlavik A, Jouinot
A, Rondof W, Septier A, Drougat L, Hécale-Perlemoine K, Ragazzon B, Rizk-Rabin
M, Sibony M, Bonnet-Serrano F, Guibourdenche J, Libé R, Groussin L, Dousset B,
de Reyniès A, Bertherat J, Assié G. Genomic classification of benign
adrenocortical lesions. Endocr Relat Cancer. 2021 Jan;28(1):79-95. doi:
1530/ERC-20-0128. PMID: 33151900.

 

5: Espiard S, McQueen J, Sherlock M, Ragnarsson O, Bergthorsdottir R, Burman P,
Dahlqvist P, Ekman B, Engström BE, Skrtic S, Wahlberg J, Stewart PM, Johannsson
Improved Urinary Cortisol Metabolome in Addison Disease: A Prospective Trial
of Dual-Release Hydrocortisone. J Clin Endocrinol Metab. 2021 Mar
8;106(3):814-825. doi: 10.1210/clinem/dgaa862. PMID: 33236103; PMCID:
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6: Espiard S, Knape MJ, Bathon K, Assié G, Rizk-Rabin M, Faillot S, Luscap-
Rondof W, Abid D, Guignat L, Calebiro D, Herberg FW, Stratakis CA, Bertherat J.

Activating PRKACB somatic mutation in cortisol-producing adenomas. JCI Insight.
2018 Apr 19;3(8):e98296. doi: 10.1172/jci.insight.98296. PMID: 29669941; PMCID:
PMC5931119

 

7: Espiard S, Lahlou N, Sibony M, Louiset E, Bienvenu M, Bertherat J, Dousset B,
Groussin L, Libé R. Reversal of a Blunted Follicle-Stimulating Hormone by
Chemotherapy in an Inhibin B-Secreting Adrenocortical Carcinoma. J Endocr Soc.
2017 Jan 12;1(1):46-50. doi: 10.1210/js.2016-1009. PMID: 29264444; PMCID:
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8: Berthon A, Faucz FR, Espiard S, Drougat L, Bertherat J, Stratakis CA. Age-
dependent effects of Armc5 haploinsufficiency on adrenocortical function. Hum
Mol Genet. 2017 Sep 15;26(18):3495-3507. doi: 10.1093/hmg/ddx235. PMID:28911199; PMCID: PMC6074838.

 

9: Rego T, Fonseca F, Espiard S, Perlemoine K, Bertherat J, Agapito A.
<i>ARMC5</i> mutation in a Portuguese family with primary bilateral macronodular
adrenal hyperplasia (PBMAH). Endocrinol Diabetes Metab Case Rep. 2017 Mar
27;2017:16-0135. doi: 10.1530/EDM-16-0135. PMID: 28458897; PMCID: PMC5404469.

 

10: Angelousi A, Zilbermint M, Berthon A, Espiard S, Stratakis CA. Diagnosis and
Management of Hereditary Adrenal Cancer. Recent Results Cancer Res.2016;205:125-47. doi: 10.1007/978-3-319-29998-3_8. PMID: 27075352.

 

11: Drougat L, Espiard S, Bertherat J. Genetics of primary bilateral macronodular
adrenal hyperplasia: a model for early diagnosis of Cushing’s syndrome? Eur J
2015 Oct;173(4):M121-31. doi: 10.1530/EJE-15-0532. Epub 2015 Aug 11.PMID: 26264719.

 

12: Correa R, Zilbermint M, Berthon A, Espiard S, Batsis M, Papadakis GZ, Xekouki P, Lodish MB, Bertherat J, Faucz FR, Stratakis CA. The ARMC5 gene shows extensive genetic variance in primary macronodular adrenocortical hyperplasia. Eur J Endocrinol. 2015 Oct;173(4):435-40. doi: 10.1530/EJE-15-0205. Epub 2015
Jul 10. PMID: 26162405; PMCID: PMC4572515.

 

13: Espiard S, Bertherat J. The genetics of adrenocortical tumors. Endocrinol
Metab Clin North Am. 2015 Jun;44(2):311-34. doi: 10.1016/j.ecl.2015.02.004.PMID: 26038203.

 

14: Espiard S, Drougat L, Libé R, Assié G, Perlemoine K, Guignat L, Barrande G,Brucker-Davis F, Doullay F, Lopez S, Sonnet E, Torremocha F, Pinsard D,
Chabbert-Buffet N, Raffin-Sanson ML, Groussin L, Borson-Chazot F, Coste J,Bertagna X, Stratakis CA, Beuschlein F, Ragazzon B, Bertherat J. ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences. J Clin Endocrinol Metab. 2015 Jun;100(6):E926-35. doi:1210/jc.2014-4204. Epub 2015 Apr 8. PMID: 25853793; PMCID: PMC5393514.

 

15: Zilbermint M, Xekouki P, Faucz FR, Berthon A, Gkourogianni A, Schernthaner-Reiter MH, Batsis M, Sinaii N, Quezado MM, Merino M, Hodes A, Abraham SB, Libé R, Assié G, Espiard S, Drougat L, Ragazzon B, Davis A, Gebreab SY, Neff R,Kebebew E, Bertherat J, Lodish MB, Stratakis CA. Primary Aldosteronism and ARMC5 J Clin Endocrinol Metab. 2015 Jun;100(6):E900-9. doi: 1210/jc.2014-4167. Epub 2015 Mar 30. PMID: 25822102; PMCID: PMC4454793.

 

16: Espiard S, Ragazzon B, Bertherat J. Protein kinase A alterations in adrenocortical tumors. Horm Metab Res. 2014 Nov;46(12):869-75. doi:1055/s-0034-1385908. Epub 2014 Aug 8. PMID: 25105543.

 

17: Faucz FR, Zilbermint M, Lodish MB, Szarek E, Trivellin G, Sinaii N, Berthon A, Libé R, Assié G, Espiard S, Drougat L, Ragazzon B, Bertherat J, Stratakis CA.
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):E1113-9. doi: 10.1210/jc.2013-4280. Epub 2014 Mar 6. PMID: 24601692; PMCID: PMC4037724.

 

18: Assié G, Libé R, Espiard S, Rizk-Rabin M, Guimier A, Luscap W, Barreau O, Lefèvre L, Sibony M, Guignat L, Rodriguez S, Perlemoine K, René-Corail F, Letourneur F, Trabulsi B, Poussier A, Chabbert-Buffet N, Borson-Chazot F, Groussin L, Bertagna X, Stratakis CA, Ragazzon B, Bertherat J. ARMC5 mutations in macronodular adrenal hyperplasia with Cushing’s syndrome. N Engl J Med. 2013 Nov 28;369(22):2105-14. doi: 10.1056/NEJMoa1304603. PMID: 24283224; PMCID: PMC4727443

 

19: Espiard S, Bertherat J. Carney complex. Front Horm Res. 2013;41:50-62. doi: 1159/000345669. Epub 2013 Mar 19. PMID: 23652670.

 

20: Humbert L, Cornu M, Proust-Lemoine E, Bayry J, Wemeau JL, Vantyghem MC, Sendid B. Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine SyndromeType 1. Front Immunol. 2018 Nov 19;9:2570. doi: 10.3389/fimmu.2018.02570. PMID: 30510552; PMCID: PMC6254185.

 

21: Espiard S, Benomar K, Loyer C, Vahé C, Vantyghem MC. European recommendationsfor the management of adrenal incidentalomas: A debate on patients follow-up. Ann Endocrinol (Paris). 2018 Feb;79(1):45-48. doi: 10.1016/j.ando.2017.08.002.

 

22: Coste T, Caiazzo R, Torres F, Vantyghem MC, Carnaille B, Do Cao C, Douillard C, Pattou F. Laparoscopic adrenalectomy by transabdominal lateral approach: 20 years of experience. Surg Endosc. 2017 Jul;31(7):2743-2751. doi:1007/s00464-016-4830-0. Epub 2016 Nov 10. Erratum in: Surg Endosc. 2017 Jul;31(7):2752. PMID: 27834023.

 

23: Bram Z, Louiset E, Ragazzon B, Renouf S, Wils J, Duparc C, Boutelet I, Rizk- Rabin M, Libé R, Young J, Carson D, Vantyghem MC, Szarek E, Martinez A, Stratakis CA, Bertherat J, Lefebvre H. PKA regulatory subunit 1A inactivating mutation induces serotonin signaling in primary pigmented nodular adrenal JCI Insight. 2016 Sep 22;1(15):e87958. doi: 10.1172/jci.insight.87958. PMID: 27699247; PMCID: PMC5033753.

 

24: Vezzosi D, Tenenbaum F, Cazabat L, Tissier F, Bienvenu M, Carrasco CA, Laloi- Michelin M, Barrande G, Lefebvre H, Hiéronimus S, Tabarin A, Bertagna X, Legmann P, Vantyghem MC, Bertherat J. Hormonal, Radiological, NP-59 Scintigraphy, and Pathological Correlations in Patients With Cushing’s Syndrome Due to Primary Pigmented Nodular Adrenocortical Disease (PPNAD). J Clin Endocrinol Metab. 2015 Nov;100(11):4332-8. doi: 10.1210/jc.2015-2174. Epub 2015 Sep 21. PMID: 26390100.

 

25: Rousseau E, Joubert M, Trzepla G, Parienti JJ, Freret T, Vanthygem MC, Desailloud R, Lefebvre H, Coquerel A, Reznik Y; PHAD Study Group. Usefulness of Time-Point Serum Cortisol and ACTH Measurements for the Adjustment of  Glucocorticoid Replacement in Adrenal Insufficiency. PLoS One. 2015 Aug 28;10(8):e0135975. doi: 10.1371/journal.pone.0135975. PMID: 26317782; PMCID: PMC4552782

 

26: Donatini G, Caiazzo R, Do Cao C, Aubert S, Zerrweck C, El-Kathib Z, Gauthier T, Leteurtre E, Wemeau JL, Vantyghem MC, Carnaille B, Pattou F. Long-term survival after adrenalectomy for stage I/II adrenocortical carcinoma (ACC): a retrospective comparative cohort study of laparoscopic versus open approach. Ann Surg Oncol. 2014 Jan;21(1):284-91. doi: 10.1245/s10434-013-3164-6. Epub 2013 Sep 18. PMID: 24046101.

 

27: Cornillon J, Vantyghem MC, Couturier MA, de Berranger E, François S, Hermete E, Maillard N, Marcais A, Tabrizi R, Decanter C, Duléry R, Bauters F, Yakoub- Agha I; SFGM-TC. Suivi et prise en charge des troubles endocriniens en post- greffe de cellules souches hématopoïétiques: insuffisance corticotrope et ostéoporose [Management of endocrine dysfunctions after allogeneic hematopoietic stem cell transplantation: a report of the SFGM-TC on adrenal insufficiency and osteoporosis]. Pathol Biol (Paris). 2013 Aug;61(4):171-3. doi: 10.1016/j.patbio.2013.07.009. Epub 2013 Sep 4. PMID: 24011963.

 

28: Vantyghem MC, Douillard C, Balavoine AS. Hypotensions d’origine endocrinienne [Hypotension from endocrine origin]. Presse Med. 2012 Nov;41(11):1137-50. French. doi: 10.1016/j.lpm.2012.03.023. Epub 2012 Sep 10.PMID: 22975403.

 

29: Vantyghem MC, Dobbelaere D, Mention K, Wemeau JL, Saudubray JM, Douillard C. Endocrine manifestations related to inherited metabolic diseases in adults. Orphanet J Rare Dis. 2012 Jan 28;7:11. doi: 10.1186/1750-1172-7-11. PMID: 22284844; PMCID: PMC3349544.

 

30: Vantyghem MC, Balavoine AS, Wémeau JL, Douillard C. Hyponatremia and antidiuresis syndrome. Ann Endocrinol (Paris). 2011 Dec;72(6):500-12. doi: 10.1016/j.ando.2011.10.001. Epub 2011 Nov 25. PMID: 22119069.

 

31: Van Slycke S, Caiazzo R, Pigny P, Cardot-Bauters C, Arnalsteen L, D’Herbomez M, Leteurtre E, Rouaix-Emery N, Ernst O, Huglo D, Vantyghem MC, Wemeau JL, Carnaille B, Pattou F. Local-regional recurrence of sporadic or syndromic abdominal extra-adrenal paraganglioma: incidence, characteristics, and outcome.2009 Dec;146(6):986-92. doi: 10.1016/j.surg.2009.10.055. PMID: 19958924.

 

32: Vantyghem MC, Mention C, Dobbelaere D, Douillard C. Hypoglycémies et manifestations endocriniennes des maladies héréditaires du métabolisme chez l’adulte [Hypoglycemia and endocrine effects of adults’ inborn errors of metabolism]. Ann Endocrinol (Paris). 2009 Mar;70(1):25-42. French. doi:101016/j.ando.2008.12.007. Epub 2009 Feb 10. PMID: 19211097.

 

33: Pigny P, Cardot-Bauters C, Do Cao C, Vantyghem MC, Carnaille B, Pattou F,Caron P, Wemeau JL, Porchet N. Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation? Eur J Endocrinol. 2009 Feb;160(2):227-31. doi: 10.1530/EJE-08-0574. Epub 2008 Nov 24. PMID: 19029228.

 

34: Médeau V, Moreau F, Trinquart L, Clemessy M, Wémeau JL, Vantyghem MC, Plouin PF, Reznik Y. Clinical and biochemical characteristics of normotensive patients with primary aldosteronism: a comparison with hypertensive cases. Clin Endocrinol (Oxf). 2008 Jul;69(1):20-8. doi: 10.1111/j.1365-2265.2008.03213.x. Epub 2008 Jul 1. PMID: 18284637.

 

35: Groussin L, Horvath A, Jullian E, Boikos S, Rene-Corail F, Lefebvre H, Cephise-Velayoudom FL, Vantyghem MC, Chanson P, Conte-Devolx B, Lucas M, Gentil A, Malchoff CD, Tissier F, Carney JA, Bertagna X, Stratakis CA, Bertherat J. A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. J Clin Endocrinol Metab. 2006 May;91(5):1943-9. doi: 101210/jc.2005-2708. Epub 2006 Feb 7. PMID: 16464939.

 

36: Moreno S, Montoya G, Armstrong J, Leteurtre E, Aubert S, Vantyghem MC, Dewailly D, Wemeau JL, Proye C. Profile and outcome of pure androgen-secreting adrenal tumors in women: experience of 21 cases. 2004 Dec;136(6):1192-8. doi: 10.1016/j.surg.2004.06.046. PMID: 15657575.

 

37: Vantyghem MC, Fajardy I, Pigny P, Noel C, Kerr-Conte J, Gmyr V, Vandewalle B, Proye C, Pattou F. Kinetics of diabetes-associated autoantibodies after sequential intraportal islet allograft associated with kidney transplantation in type 1 diabetes. Diabetes Metab. 2003 Dec;29(6):595-601. doi: 101016/s1262-3636(07)70074-5. PMID: 14707888.

 

38: Bauters C, Vantyghem MC, Leteurtre E, Odou MF, Mouton C, Porchet N, Wemeau JL, Proye C, Pigny P. Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes. J Med Genet. 2003 Jun;40(6):e75. doi: 10 1136/jmg.40.6.e75. PMID: 12807974; PMCID: PMC1735500.

 

39: Ghulam A, Vantyghem MC, Wemeau JL, Boersma A. Adrenal minerlocorticoids pathway and its clinical applications. Clin Chim Acta. 2003 Apr;330(1-2):99-110. doi: 10.1016/s0009-8981(03)00045-7. PMID: 12636928.

 

40: Vantyghem MC, Ronci N, Provost F, Ghulam A, Lefebvre J, Jeunemaitre X,  Tabarin A. Aldosterone-producing adenoma without hypertension: a report of two Eur J Endocrinol. 1999 Sep;141(3):279-85. doi: 10.1530/eje.0.1410279. PMID: 10474126.

 

41: Vantyghem MC, Douillard C, Evrard A, Lefebvre J. Relations entre l’axe corticotrope et l’arginine vasopressine en pathologie endocrinienne [Relationship between corticotropin and arginine vasopressin in endocrine diseases]. Presse Med. 1999 Jun 5;28(20):1085-90. French. PMID: 10394380.

 

42: Evrard A, Hober C, Racadot A, Lefebvre J, Vantyghem MC. Hormone natriurétique auriculaire et fonctions endocrines [Atrial natriuretic hormone and endocrine functions]. Ann Biol Clin (Paris). 1999 Mar-Apr;57(2):149-55. PMID: 10210741.

 

43: Vantyghem MC, Hober C, Evrard A, Ghulam A, Lescut D, Racadot A, Triboulet  JP, Armanini D, Lefebvre J. Transient pseudo-hypoaldosteronism following resection of the ileum: normal level of lymphocytic aldosterone receptors outside the acute phase. J Endocrinol Invest. 1999 Feb;22(2):122-7. doi: 101007/BF03350891. PMID: 10195379.

 

44: Giraud S, Zhang CX, Serova-Sinilnikova O, Wautot V, Salandre J, Buisson N, Waterlot C, Bauters C, Porchet N, Aubert JP, Emy P, Cadiot G, Delemer B, Chabre O, Niccoli P, Leprat F, Duron F, Emperauger B, Cougard P, Goudet P, Sarfati E, Riou JP, Guichard S, Rodier M, Meyrier A, Caron P, Vantyghem MC, Assayag M, Peix JL, Pugeat M, Rohmer V, Vallotton M, Lenoir G, Gaudray P, Proye C, Conte-Devolx B, Chanson P, Shugart YY, Goldgar D, Murat A, Calender A. Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related Am J Hum Genet. 1998 Aug;63(2):455-67. doi: 10.1086/301953. PMID: 9683585; PMCID: PMC1377295.

 

45: Stach B, Marquette CH, Lafitte JJ, Vantyghem MC, Lefebvre J, Tonnel AB. Lésion pleurale adénocarcinomateuse associée à une hypoglycémie [Adenocarcinomatous pleural lesion associated with hypoglycemia]. Rev Mal 1992;9(4):474-6. French. PMID: 1509195.

 

46: Dewailly D, Vantyghem MC, Lemaire C, Dufosse F, Racadot A, Fossati P. Screening heterozygotes for 21-hydroxylase deficiency among hirsute women: lack  of utility of the adrenocorticotropin hormone test. Fertil Steril. 1988 Aug;50(2):228-32. doi: 10.1016/s0015-0282(16)60064-x. PMID: 2840308.