Research & Literature

An analysis of different therapeutic options in patients with Cushing's syndrome due to bilateral macronodular adrenal hyperplasia: a single-centre experience.

Albiger NM, Ceccato F, Zilio M, et al.

Clinical endocrinology 2015; (82(6)):808-15 doi:10.1111/cen.12763.

ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences.

Espiard S, Drougat L, Libé R, et al.

The Journal of clinical endocrinology and metabolism 2015; (100(6)):E926-35 doi:10.1210/jc.2014-4204.

The ARMC5 gene shows extensive genetic variance in primary macronodular adrenocortical hyperplasia.

Correa R, Zilbermint M, Berthon A, et al.

European journal of endocrinology 2015; (173(4)):435-40 doi:10.1530/EJE-15-0205.

Genetics of primary bilateral macronodular adrenal hyperplasia: a model for early diagnosis of Cushing's syndrome?

Drougat L, Espiard S, Bertherat J

European journal of endocrinology 2015; (173(4)):M121-31 doi:10.1530/EJE-15-0532.

Unilateral Adrenalectomy as a First-Line Treatment of Cushing's Syndrome in Patients With Primary Bilateral Macronodular Adrenal Hyperplasia.

Debillon E, Velayoudom-Cephise FL, Salenave S, et al.

The Journal of clinical endocrinology and metabolism 2015; (100(12)):4417-24 doi:10.1210/jc.2015-2662.

ARMC5 mutations in a large French-Canadian family with cortisol-secreting β-adrenergic/vasopressin responsive bilateral macronodular adrenal hyperplasia.

Bourdeau I, Oble S, Magne F, et al.

European journal of endocrinology 2016; (174(1)):85-96 doi:10.1530/EJE-15-0642.

Bilateral adrenalectomy in the 21st century: when to use it for hypercortisolism?

Guerin C, Taieb D, Treglia G, et al.

Endocrine-related cancer 2016; (23(2)):R131-42 doi:10.1530/ERC-15-0541.

Management of adrenal incidentalomas: European Society of Endocrinology Clinical Practice Guideline in collaboration with the European Network for the Study of Adrenal Tumors.

Fassnacht M, Arlt W, Bancos I, et al.

European journal of endocrinology 2016; (175(2)):G1-G34 doi:10.1530/EJE-16-0467.

Carney complex: A familial lentiginosis predisposing to a variety of tumors.

Stratakis CA

Reviews in endocrine & metabolic disorders 2016; (17(3)):367-371 doi:10.1007/s11154-016-9400-1.

Diagnostic pitfalls of adrenal incidentaloma.

Cyrańska-Chyrek E, Grzymisławska M, Ruchała M

Endokrynologia Polska 2017; (68(3)):360-377 doi:10.5603/EP.2017.0028.

Whole-genome sequencing revealed armadillo repeat containing 5 (ARMC5) mutation in a Chinese family with ACTH-independent macronodular adrenal hyperplasia.

Zhang Q, Cui L, Gao JP, et al.

Endocrine journal 2018; (65(3)):269-279 doi:10.1507/endocrj.EJ17-0317.

MANAGEMENT OF ENDOCRINE DISEASE: Differential diagnosis, investigation and therapy of bilateral adrenal incidentalomas.

Bourdeau I, El Ghorayeb N, Gagnon N, Lacroix A

European journal of endocrinology 2018; (179(2)):R57-R67.

Assessment of vertebral microarchitecture in overt and mild Cushing's syndrome using trabecular bone score.

Vinolas H, Grouthier V, Mehsen-Cetre N, et al.

Clinical endocrinology 2018; (89(2)):148-154 doi:10.1111/cen.13743.

Current strategies for the treatment of severe Cushing's syndrome.

Alexandraki KI, Grossman AB

Expert review of endocrinology & metabolism 2016; (11(1)):65-79 doi:10.1586/17446651.2016.1123615.

Long-Term Outcome of Primary Bilateral Macronodular Adrenocortical Hyperplasia After Unilateral Adrenalectomy.

Osswald A, Quinkler M, Di Dalmazi G, et al.

The Journal of clinical endocrinology and metabolism 2019; (104(7)):2985-2993 doi:10.1210/jc.2018-02204.

Mifepristone Treatment in Four Cases of Primary Bilateral Macronodular Adrenal Hyperplasia (BMAH).

Cohan P, East HE, Galati SJ, et al.

The Journal of clinical endocrinology and metabolism 2019; (104(12)):6279-6290 doi:10.1210/jc.2018-02638.

Unilateral Adrenalectomy for Primary Bilateral Macronodular Adrenal Hyperplasia: Analysis of 71 Cases.

Sheikh-Ahmad M, Dickstein G, Matter I, et al.

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2020; (128(12)):827-834 doi:10.1055/a-0998-7884.

A Case of Severe Psychosis Due to Cushing's Syndrome Secondary to Primary Bilateral Macronodular Adrenal Hyperplasia.

Shah K, Mann I, Reddy K, John G

Cureus 2019; (11(11)):e6162 doi:10.7759/cureus.6162.

Frequency and Incidence of Carney Complex Manifestations: A Prospective Multicenter Study With a Three-Year Follow-Up.

Espiard S, Vantyghem MC, Assié G, et al.

The Journal of clinical endocrinology and metabolism 2020; (105(3)) doi:10.1210/clinem/dgaa002.

Diagnosis and management of primary bilateral macronodular adrenal hyperplasia

Vassiliadi DA, Tsagarakis S

Endocrine-related cancer 2019; (26(10)):R567-R581.

Update of Genetic and Molecular Causes of Adrenocortical Hyperplasias Causing Cushing Syndrome.

Berthon A, Bertherat J

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2020; (52(8)):598-606 doi:10.1055/a-1061-7349.

Approach to patients with bilateral adrenal incidentalomas.

Vassiliadi DA, Partsalaki E, Tsagarakis S

Current opinion in endocrinology, diabetes, and obesity 2020; (27(3)):125-131 doi:10.1097/MED.0000000000000536.

Practical guide on the initial evaluation, follow-up, and treatment of adrenal incidentalomas Adrenal Diseases Group of the Spanish Society of Endocrinology and Nutrition.

Araujo-Castro M, Iturregui Guevara M, Calatayud Gutiérrez M, et al.

Endocrinologia, diabetes y nutricion 2020; (67(6)):408-419 doi:10.1016/j.endinu.2020.03.002.

ACTH following overnight dexamethasone suppression can be used in the verification of autonomous cortisol secretion in patients with adrenal incidentalomas.

Puvaneswaralingam S, Kjellbom A, Lindgren O, et al.

Clinical endocrinology 2021; (94(2)):168-175 doi:10.1111/cen.14357.

Acute and Life-threatening Complications in Cushing Syndrome: Prevalence, Predictors, and Mortality.

Schernthaner-Reiter MH, Siess C, Micko A, et al.

The Journal of clinical endocrinology and metabolism 2021; (106(5)):e2035-e2046 doi:10.1210/clinem/dgab058.

Medical therapy in severe hypercortisolism.

Marques JVO, Boguszewski CL

Best practice & research. Clinical endocrinology & metabolism 2021; (35(2)):101487 doi:10.1016/j.beem.2021.101487.

Role of unilateral adrenalectomy in bilateral adrenal hyperplasias with Cushing's syndrome.

Meloche-Dumas L, Mercier F, Lacroix A

Best practice & research. Clinical endocrinology & metabolism 2021; (35(2)):101486 doi:10.1016/j.beem.2021.101486.

A multidisciplinary approach to the management of adrenal incidentaloma.

Voltan G, Boscaro M, Armanini D, et al.

Expert review of endocrinology & metabolism 2021; (16(4)):201-212 doi:10.1080/17446651.2021.1948327.

[Bilateral macronodular adrenal hyperplasia: a rare cause of Cushing's syndrome (a case report)].

Er-Rahali Y, Moumen A, Elmoussaoui S, et al.

The Pan African medical journal 2021; (39()):98 doi:10.11604/pamj.2021.39.98.26041.

Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study.

Chasseloup F, Bourdeau I, Tabarin A, et al.

The lancet. Diabetes & endocrinology 2021; (9(12)):813-824 doi:10.1016/S2213-8587(21)00236-9.

Synergistic cortisol suppression by ketoconazole-osilodrostat combination therapy.

Amodru V, Brue T, Castinetti F

Endocrinology, diabetes & metabolism case reports 2021; (2021()).

KDM1A inactivation causes hereditary food-dependent Cushing syndrome.

Vaczlavik A, Bouys L, Violon F, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2022; (24(2)):374-383 doi:10.1016/j.gim.2021.09.018.

Performance of DHEAS as a Screening Test for Autonomous Cortisol Secretion in Adrenal Incidentalomas: A Prospective Study.

Liu MS, Lou Y, Chen H, et al.

The Journal of clinical endocrinology and metabolism 2022; (107(5)):e1789-e1796 doi:10.1210/clinem/dgac072.

The role of adrenal venous sampling (AVS) in primary bilateral macronodular adrenocortical hyperplasia (PBMAH): a study of 16 patients.

Rubinstein G, Osswald A, Braun LT, et al.

Endocrine 2022; (76(2)):434-445 doi:10.1007/s12020-022-03020-z.

Overview of the 2022 WHO Classification of Adrenal Cortical Tumors.

Mete O, Erickson LA, Juhlin CC, et al.

Endocrine pathology 2022; (33(1)):155-196 doi:10.1007/s12022-022-09710-8.

An Overview of the Heterogeneous Causes of Cushing Syndrome Resulting From Primary Macronodular Adrenal Hyperplasia (PMAH).

Charchar HLS, Fragoso MCBV

Journal of the Endocrine Society 2022; (6(5)):bvac041 doi:10.1210/jendso/bvac041.

The Effect of Endogenous Cushing Syndrome on All-cause and Cause-specific Mortality.

Limumpornpetch P, Morgan AW, Tiganescu A, et al.

The Journal of clinical endocrinology and metabolism 2022; (107(8)):2377-2388 doi:10.1210/clinem/dgac265.

A 30-Year, Single-Center Experience of Unilateral Adrenalectomy for Primary Bilateral Macronodular Adrenal Hyperplasia.

Wang W, Lian P, Deng J, et al.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2022; (28(7)):690-695 doi:10.1016/j.eprac.2022.04.011.

Prevalence and phenotype of primary bilateral macronodular adrenal hyperplasia with autonomous cortisol secretion: a study of 98 patients.

Bengoa-Rojano N, Fernández-Argüeso M, Botella-Carretero JI, et al.

Revista clinica espanola 2022; (222(8)):458-467 doi:10.1016/j.rceng.2022.01.003.

Current approach of primary bilateral adrenal hyperplasia.

Delivanis DA, Vassiliadi DA, Tsagarakis S

Current opinion in endocrinology, diabetes, and obesity 2022; (29(3)):243-252 doi:10.1097/MED.0000000000000725.

Primary bilateral macronodular adrenal hyperplasia: definitely a genetic disease.

Cavalcante IP, Berthon A, Fragoso MC, et al.

Nature reviews. Endocrinology 2022; (18(11)):699-711 doi:10.1038/s41574-022-00718-y.

Cushing´s syndrome due to bilateral adrenal cortical disease: Bilateral macronodular adrenal cortical disease and bilateral micronodular adrenal cortical disease.

Araujo-Castro M, Marazuela M

Frontiers in endocrinology 2022; (13()):913253 doi:10.3389/fendo.2022.913253.

Clinical, Pathophysiologic, Genetic, and Therapeutic Progress in Primary Bilateral Macronodular Adrenal Hyperplasia.

Bertherat J, Bourdeau I, Bouys L, et al.

Endocrine reviews 2023; (44(4)):567-628 doi:10.1210/endrev/bnac034.

The effect of unilateral adrenalectomy on patients with primary bilateral macronodular adrenal hyperplasia.

Yu Z, Gao J, Sun F

Hormones (Athens, Greece) 2023; (22(2)):235-242 doi:10.1007/s42000-023-00428-8.

Extensive expertise in endocrinology: glucose-dependent insulinotropic peptide-dependent Cushing's syndrome.

Lacroix A

European journal of endocrinology 2023; (188(3)):R56-R72 doi:10.1093/ejendo/lvad026.

PAI-BEL: a Belgian multicentre survey of primary adrenal insufficiency.

Driessens N, Prasai M, Alexopoulou O, et al.

Endocrine connections 2023; (12(6)).

Primary bilateral macronodular adrenal hyperplasia: A series of 32 cases and literature review.

Araujo-Castro M, Reincke M

Endocrinologia, diabetes y nutricion 2023; (70(4)):229-239 doi:10.1016/j.endien.2023.04.005.

European Society of Endocrinology clinical practice guidelines on the management of adrenal incidentalomas, in collaboration with the European Network for the Study of Adrenal Tumors.

Fassnacht M, Tsagarakis S, Terzolo M, et al.

European journal of endocrinology 2023; (189(1)):G1-G42 doi:10.1093/ejendo/lvad066.

ARMC5-negative primary bilateral macronodular adrenal hyperplasia.

Sol B, Carprieaux M, De Leu N

BMJ case reports 2023; (16(7)) doi:10.1136/bcr-2022-254099.

[Macronodular adrenal hyperplasia causing Cushing's syndrome due to ARMC5 gene mutation.]

Hella Z, Tőke J, Patócs A, et al.

Orvosi hetilap 2023; (164(32)):1271-1277 doi:10.1556/650.2023.32817.

Recent Updates on the Management of Adrenal Incidentalomas.

Park SS, Kim JH

Endocrinology and metabolism (Seoul, Korea) 2023; (38(4)):373-380 doi:10.3803/EnM.2023.1779.

Comorbidities in mild autonomous cortisol secretion and the effect of treatment: systematic review and meta-analysis.

Pelsma ICM, Fassnacht M, Tsagarakis S, et al.

European journal of endocrinology 2023; (189(4)):S88-S101 doi:10.1093/ejendo/lvad134.

Bilateral Adrenocortical Nodular Disease and Cushing's Syndrome.

Bouys L, Violon F, Louiset E, et al.

The Journal of clinical endocrinology and metabolism 2024; (109(10)):2422-2432 doi:10.1210/clinem/dgae419.

From the First Case Reports to KDM1A Identification: 35 Years of Food (GIP)-Dependent Cushing's Syndrome.

Bouys L, Bertherat J

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2024; (132(12)):697-704 doi:10.1055/a-2359-8051.

[The value of dehydroepiandrosterone sulfate in the differential diagnosis of primary bilateral adrenal macronodular hyperplasia].

Rao XJ, Jiang DY, Zang L, et al.

Zhonghua yi xue za zhi 2024; (104(30)):2830-2836 doi:10.3760/cma.j.cn112137-20240201-00248.

Long-term outcome of unilateral adrenalectomy for primary bilateral macronodular adrenal hyperplasia.

Zhou H, Yin Y, Zhang P, et al.

Endocrine 2025; (87(2)):810-821 doi:10.1007/s12020-024-04030-9.

Primary bilateral macronodular adrenal hyperplasia: A rare case report of Cushing syndrome and review of literature.

Ghanbari Boroujeni MR, Meftah E, Zarimeidani F, et al.

Medicine 2024; (103(41)):e40050 doi:10.1097/MD.0000000000040050.

Bilateral macronodular adrenocortical disease: a single centre experience.

Ban A, Barnabas R, Karlekar M, et al.

Endocrine connections 2025; (14(3)).

The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update.

Bouys L, Vaczlavik A, Cavalcante IP, et al.

Orphanet journal of rare diseases 2025; (20(1)):51 doi:10.1186/s13023-025-03554-1.

KDM1A genetic alterations, a rare cause of primary bilateral macronodular adrenal hyperplasia, strongly associated with food-dependent Cushing's syndrome: results of its systematic germline screening in 301 index cases and genotype/phenotype correlation.

Bouys L, Vaduva P, Jouinot A, et al.

European journal of endocrinology 2025; (192(2)):119-127 doi:10.1093/ejendo/lvaf016.

Prevalence and main characteristics of primary aldosteronism in bilateral macronodular adrenal disease: a systematic review of the literature.

Panarelli A, Schweizer JROL, Stüfchen I, et al.

European journal of endocrinology 2025; (192(3)):S15-S25 doi:10.1093/ejendo/lvaf020.

Mild autonomous cortisol secretion: impact on bone health and quality of life. A review.

Jiménez Cassinello JM, Vega-Beyhart A, Bernarda Iriarte M, et al.

Endocrine 2025; (88(3)):693-700 doi:10.1007/s12020-025-04203-0.

Long-term cardiometabolic outcomes of primary bilateral macronodular adrenal hyperplasia.

Zhou H, Zhang P, Yin Y, et al.

Journal of endocrinological investigation 2025; (48(6)):1403-1414 doi:10.1007/s40618-025-02561-0.

Efficacy of Propranolol Combined with Different Modalities of Unilateral Adrenalectomy in a Case Series of 4 ARMC5-mutated Patients.

Yu F, Yu B, Zhou H, et al.

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2025; (133(5)):235-245 doi:10.1055/a-2559-9643.

Clinical heterogeneity and imaging-driven genetic screening priorities in patients with radiologically suspected primary bilateral macronodular adrenal hyperplasia.

Xu H, Li B, Chen K, et al.

Endocrine connections 2025; (14(10)).

Prevalence and Associated Risk Factors for Venous Thromboembolism in a Large Cohort of Patients With Cushing Disease.

Garcia Pereira AJ, Batista RL, Carneiro Cunha-Neto MB, et al.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2026; (32(2)):227-235 doi:10.1016/j.eprac.2025.10.005.

Two cases of MACS due to PBMAH associated with an in vivo aberrant response to LHRH treated with leuprolide acetate.

Branchaud-Croisetière L, Maillet M, St-Jean M

Endocrinology, diabetes & metabolism case reports 2025; (2025(4)).

Value of the Serum Dexamethasone Determination for the Diagnosis of Mild Autonomous Cortisol Secretion.

Araujo-Castro M, Cortés Gómez A, Rosillo M, et al.

Clinical endocrinology 2026; (104(5)):428-435 doi:10.1111/cen.70065.

Growth Kinetics of Bilateral Macronodular Adrenocortical Disease: Long-Term Imaging Follow-Up in Natural and Surgical Cohorts.

Xu H, Zhong F, Jiao Q, et al.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2026; (32(6)):868-877 doi:10.1016/j.eprac.2025.12.008.

A Second Look at Refractory Edema: Delayed Diagnosis of Paraneoplastic Cushing's Syndrome in Small Cell Lung Cancer.

Annan GK, Mills-Annoh A, Persad D, et al.

Cureus 2025; (17(12)):e99533 doi:10.7759/cureus.99533.

Effect of surgical versus conservative management on cardiovascular outcomes in patients with bilateral adrenal tumours and cortisol excess: an international, retrospective cohort study.

Nowak E, Viëtor CL, Feelders RA, et al.

The lancet. Diabetes & endocrinology 2026; (14(3)):202-215 doi:10.1016/S2213-8587(25)00302-X.

Primary Bilateral Macronodular Adrenocortical Disease With Concomitant Cushing Syndrome and Primary Aldosteronism Harboring Distinct ARMC5 Mutations in Individual Nodules.

Kitazawa S, Kitazawa R

Cureus 2026; (18(1)):e102743 doi:10.7759/cureus.102743.

KDM1A pathogenic variants link epigenetic regulation to GIP-dependent primary bilateral macronodular adrenal hyperplasia.

Chasseloup F, Kamenický P

Annales d'endocrinologie 2026; (87(3)):102516 doi:10.1016/j.ando.2026.102516.

Genetic background and management outcomes in primary bilateral macronodular adrenal hyperplasia: Implications for diagnosis and treatment-A retrospective cohort study.

Gür EÖ, Karaıslı S, Çavdar Ü, et al.

The Journal of international medical research 2026; (54(3)):3000605261430449 doi:10.1177/03000605261430449.

Evaluation of adrenal incidentalomas: Current approaches, caveats, and unexplored issues.

Kouroglou E, Tsiama V, Stroumpouli E, et al.

World journal of radiology 2026; (18(4)):119833 doi:10.4329/wjr.v18.i4.119833.

Mild autonomous cortisol secretion: Diagnosis.

Pinto L, Donato S

Vitamins and hormones 2026; (132()):243-272 doi:10.1016/bs.vh.2026.02.005.

Bilateral macronodular and micronodular hyperplasia: Biochemical, radiological and genetic diagnosis.

Navas-Moreno V, Sager-La Ganga C, Tapia-Sanchiz MS, et al.

Vitamins and hormones 2026; (132()):93-126 doi:10.1016/bs.vh.2026.02.002.

First case report of the ARMC5 (c.2692C>T, p.Arg898Trp) variant in a Chinese family with adrenocorticotropic hormone-independent macronodular adrenal hyperplasia.

Gai R, Shi C, Guo Z, et al.

AME case reports 2026; (10()):114 doi:10.21037/acr-2026-0029.

Perioperative Risks and Long-Term Outcomes of Bilateral Adrenalectomy: A Multicenter Retrospective Cohort Study Across Cushing's Syndrome and Non-Cushing Etiologies.

Güngör Semiz G, Yılmaz N, Aydemir M, et al.

Medicina (Kaunas, Lithuania) 2026; (62(7)) doi:10.3390/medicina62071373.

Case Report: a family presenting with β-adrenergic/vasopressin-responsive bilateral macronodular adrenal disease with an ARMC5 mutation treated with metyrapone monotherapy for more than 5 years.

Arai M, Ono M, Inoue R, et al.

Frontiers in endocrinology 2026; (17()):1852080 doi:10.3389/fendo.2026.1852080.

Etomidate Monotherapy for Perioperative Control of Hypercortisolism in a Mitotane-Intolerant Patient With Adrenocortical Carcinoma: A Case Report.

Alkheamy N, Jbara J, Shaikh N, et al.

Cureus 2026; (18(9)):e115808 doi:10.7759/cureus.115808.