Clinical analysis of the etiological spectrum of bilateral adrenal lesions: A large retrospective, single-center study

Yan, Fangfang; Zeng, Jiali; Chen, Yulong; Cheng, Yu; Yu, Pei; Zang, Li; Chen, Kang; Gu, Weijun; Du, Jin; Guo, Qinghua; Xl, Wang; Ba, Jianming; Lyu, Zhaohui; Dou, Jingtao; Yang, Guoqing; Mu, Yiming

doi:10.1007/s12020-022-03077-w

Cited by 4 publications

(2 citation statements)

References 36 publications

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“…Bilateral adrenal disease also relates to aldosterone and cortisol excess. One study from 2022 of 777 patients (495/777 were males) with bilateral adrenal tumours showed that PA and PBMAH are the most frequent hormonally active lesions (16.6% with PA, and 8.8% with PBMAH) [ 152 ].…”

Section: Approach Of Connshing Syndromementioning

confidence: 99%

The Entity of Connshing Syndrome: Primary Aldosteronism with Autonomous Cortisol Secretion

Cârșote¹

2022

Diagnostics

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Connshing syndrome (CoSh) (adrenal-related synchronous aldosterone (A) and cortisol (C) excess) represents a distinct entity among PA (primary hyperaldosteronisms) named by W. Arlt et al. in 2017, but the condition has been studied for more than 4 decades. Within the last few years, this is one of the most dynamic topics in hormonally active adrenal lesions due to massive advances in steroids metabolomics, molecular genetics from CYP11B1/B2 immunostaining to genes constellations, as well as newly designated pathological categories according to the 2022 WHO classification. In gross, PA causes 4–10% of all high blood pressure (HBP) cases, and 20% of resistant HBP; subclinical Cushing syndrome (SCS) is identified in one-third of adrenal incidentalomas (AI), while CoSh accounts for 20–30% to 77% of PA subjects, depending on the tests used to confirm autonomous C secretion (ACS). The clinical picture overlaps with PA, hypercortisolemia being mild. ACS is suspected in PA if a more severe glucose and cardiovascular profile is identified, or there are larger tumours, ACS being an independent factor risk for kidney damage, and probably also for depression/anxiety and osteoporotic fractures. It seems that one-third of the PA-ACS group harbours mutations of C-related lines like PRKACA and GNAS. A novel approach means we should perform CYP11B2/CYP11B1 immunostaining; sometimes negative aldosteronoma for CYP11B1 is surrounded by micronodules or cell clusters with positive CYP11B1 to sustain the C excess. Pitfalls of hormonal assessments in CoSh include the index of suspicion (check for ACS in PA patients) and the interpretation of A/C ratio during adrenal venous sample. Laparoscopic adrenalectomy is the treatment of choice. Post-operative clinical remission rate is lower in CoSh than PA. The risk of clinically manifested adrenal insufficiency is low, but a synthetic ACTH stimulating testing might help to avoid unnecessary exposure to glucocorticoids therapy. Finally, postponing the choice of surgery may impair the outcome, having noted that long-term therapy with mineralocorticoids receptors antagonists might not act against excessive amounts of C. Awareness of CoSh improves management and overall prognosis.

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Section: Approach Of Connshing Syndromementioning

confidence: 99%

The Entity of Connshing Syndrome: Primary Aldosteronism with Autonomous Cortisol Secretion

Cârșote¹

2022

Diagnostics

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“…PBMAH considered a rare disease in the past, is actually more and more recognized in clinical practice as a heterogeneous clinical entity characterized by a wide spectrum of severity regarding both functional aspects and morphological features. (Bouys et al, 2022;Chevalier et al, 2021;He et al, 2021;Yan et al, 2022).…”

mentioning

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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Evaluation of Adrenal Incidentaloma

Hu,

Kassu,

Titanji

et al. 2024

Surgical Clinics of North America

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Clinical analysis of the etiological spectrum of bilateral adrenal lesions: A large retrospective, single-center study

Cited by 4 publications

References 36 publications

The Entity of Connshing Syndrome: Primary Aldosteronism with Autonomous Cortisol Secretion

The Entity of Connshing Syndrome: Primary Aldosteronism with Autonomous Cortisol Secretion

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

Evaluation of Adrenal Incidentaloma

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