European recommendations for the management of adrenal incidentalomas: A debate on patients follow-up

Espiard, Stéphanie; Benomar, Kanza; Loyer, Camille; Vahé, Claire; Vantyghem, Marie-Christine

doi:10.1016/j.ando.2017.08.002

Cited by 4 publications

(4 citation statements)

References 19 publications

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“…Clinical guidelines recommend screening for PA in every (AI) patient with hypertension or hypokalemia ( 283 , 284 ). However, normotensive patients with suppressible aldosterone/renin ratios may frequently develop hypertension and PA ( 285 ).…”

Section: Endocrine Work-up Of Aimentioning

confidence: 99%

Adrenal Incidentaloma

et al. 2020

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An adrenal incidentaloma is now established as a common endocrine diagnosis that requires a multidisciplinary approach for effective management. The majority of patients can be reassured and discharged, but a personalized approach based upon image analysis, endocrine workup and clinical symptoms and signs are required in every case. ACC remains a real concern but is restricted to <2% of all cases. Functional AI lesions are commoner (but still probably <10% of total) and the greatest challenge remains the diagnosis and optimum management of autonomous cortisol secretion. Modern-day surgery has improved outcomes and novel radiological and urinary biomarkers will improve early detection and patient stratification in future years to come.

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Section: Endocrine Work-up Of Aimentioning

confidence: 99%

Adrenal Incidentaloma

et al. 2020

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“…Prevalence of adrenal incidentaloma is estimated at 1% to 5% of abdominal imaging, and 2.7% to 10% of them are bilateral. Subclinical CS is observed in 35% to 40% of these bilateral incidentalomas, and a certain number of cases may correspond to PBMAH [22]. Other patients are diagnosed with PBMAH because of the presence of CS.…”

Section: Carney Complexmentioning

confidence: 99%

Bilateral Adrenal Hyperplasia: Pathogenesis and Treatment

Chevalier¹,

Vantyghem

Espiard

2021

Biomedicines

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Bilateral adrenal hyperplasia is a rare cause of Cushing’s syndrome. Micronodular adrenal hyperplasia, including the primary pigmented micronodular adrenal dysplasia (PPNAD) and the isolated micronodular adrenal hyperplasia (iMAD), can be distinguished from the primary bilateral macronodular adrenal hyperplasia (PBMAH) according to the size of the nodules. They both lead to overt or subclinical CS. In the latter case, PPNAD is usually diagnosed after a systematic screening in patients presenting with Carney complex, while for PBMAH, the diagnosis is often incidental on imaging. Identification of causal genes and genetic counseling also help in the diagnoses. This review discusses the last decades’ findings on genetic and molecular causes of bilateral adrenal hyperplasia, including the several mechanisms altering the PKA pathway, the recent discovery of ARMC5, and the role of the adrenal paracrine regulation. Finally, the treatment of bilateral adrenal hyperplasia will be discussed, focusing on current data on unilateral adrenalectomy.

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“…From the point of view of the secretory aspect, overt Cushing Syndrome (CS) is a rare presentation of PBMAH, which is responsible for less than 2% of all cases of CS (De Venanzi et al, 2014 ; Hsiao et al, 2009 ), even if in Chinese population Zhou observed that up to 6.20% of CS develop in patients with PBMAH (Zhou et al, 2019 ). More frequently patients with PBMAH have Subclinical Cushing Syndrome (SCS): we do not know the real frequency of SCS in PBMAH, but we know that 35–40% of bilateral adrenal adenomas are associated with SCS, and a part of them are certainly attributable to PBMAH (Espiard et al, 2018 ). Most patients have only mild symptoms, as hypercortisolism develops very gradually according to slow nodular growth; the diagnosis is often delayed, usually between the fifth and sixth decade of life, and lastly achieved after abdominal imaging performed for other reasons.…”

Section: Introductionmentioning

confidence: 99%

New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH)

Giacchè

Panarotto

Mori

et al. 2023

Molec Gen & Gen Med

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Background To perform genetic screening for ARMC5 gene germline pathogenic variants in patients with primary bilateral macronodular adrenal hyperplasia (PBMAH). Subjects and Methods In a group of 10 PBMAH patients, we performed complete sequencing of the coding region of the ARMC5 gene and MLPA analysis for large deletion detection. In subjects with the ARMC5 variant, we searched ARMC5 gene somatic variants on tumor samples. Results Among 10 PBMAH patients, we identified four ARMC5 germline variants (40%). One variant, c:174dupC p.Glu59Argfs*44, was already known; one variant p.Gly323Asp, was already reported and classified as likely disease‐causing VUS (class 3–4); two variants p.Leu596Arg and p.Arg811Pro, were never reported before. For p.Gly323Asp and p.Arg811Pro, we identified second deleterious variants at the somatic level, enforcing the possible pathogenic effect of germline variants. Conclusions Our results underscore the importance of performing genetic testing also in sporadic PBMAH patients and broaden the spectrum of molecular variants involved in PBMAH syndrome.

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European recommendations for the management of adrenal incidentalomas: A debate on patients follow-up

Cited by 4 publications

References 19 publications

Adrenal Incidentaloma

Adrenal Incidentaloma

Bilateral Adrenal Hyperplasia: Pathogenesis and Treatment

New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH)

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