Adrenal medullary hyperplasia mimicking pheochromocytoma

Montebello, Annalisa; Ceci, Michelle; Vella, Sandro

doi:10.1136/bcr-2020-236209

Cited by 3 publications

(2 citation statements)

References 12 publications

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“…Compared to pheochromocytomas, adrenal medullary hyperplasia is less common. Only case reports or small case series about adrenal medullary hyperplasia have been reported ( 16 , 17 ), in which patients often represented with a medical history of symptoms and signs of excessive catecholamine excretion, slightly elevated level of catecholamine, and increased adrenal medullary tissue relative to the cortex. However, in our case series, blood pressure only slightly elevated for case 2, most probably related with hypercortisolism.…”

Section: Discussionmentioning

confidence: 99%

Case Report: Three Rare Cases of Ectopic ACTH Syndrome Caused by Adrenal Medullary Hyperplasia

Cheng

Dou

et al. 2021

Front. Endocrinol.

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Ectopic ACTH syndrome (EAS) accounts for 10–20% of endogenous Cushing’s syndrome (CS). Hardly any cases of adrenal medullary hyperplasia have been reported to ectopically secrete adrenocorticotropic hormone (ACTH). Here we describe a series of three patients with hypercortisolism secondary to ectopic production of ACTH from adrenal medulla. Cushingoid features were absent in case 1 but evident in the other two cases. Marked hypokalemia was found in all three patients, but hyperglycemia and osteoporosis were present only in case 2. All three patients showed significantly elevated serum cortisol and 24-h urinary cortisol levels. The ACTH levels ranged from 19.8 to 103.0pmol/L, favoring ACTH-dependent Cushing’s syndrome. Results of bilateral inferior petrosal sinus sampling (BIPSS) for case 1 and case 3 confirmed ectopic origin of ACTH. The extremely high level of ACTH and failure to suppress cortisol with high dose dexamethasone suppression test (HDDST) suggested EAS for patient 2. However, image studies failed to identify the source of ACTH secretion. Bilateral adrenalectomy was performed for rapid control of hypercortisolism. After surgery, cushingoid features gradually disappeared for case 2 and case 3. Blood pressure, blood glucose and potassium levels returned to normal ranges without medication for case 2. The level of serum potassium also normalized without any supplementation for case 1 and case 3. The ACTH levels of all three patients significantly decreased 3-6 months after surgery. Histopathology revealed bilateral adrenal medullary hyperplasia and immunostaining showed positive ACTH staining located in adrenal medulla cells. In summary, our case series reveals the adrenal medulla to be a site of ectopic ACTH secretion. Adrenal medulla-originated EAS makes the differential diagnosis of ACTH-dependent Cushing’s syndrome much more difficult. Control of the hypercortisolism is mandatory for such patients.

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Section: Discussionmentioning

confidence: 99%

Case Report: Three Rare Cases of Ectopic ACTH Syndrome Caused by Adrenal Medullary Hyperplasia

Cheng

Dou

et al. 2021

Front. Endocrinol.

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“…In addition, adrenal medullary hyperplasia (AMH), as a benign but rare pathological change, can result in secondary hypertension as well ( 5 , 6 ). Even though the association between AMH and hypertension is not clearly investigated based on current literatures ( 7 , 8 ), it is still necessary to study this rare histological change of adrenal gland detected with hypertension simultaneously. Nevertheless, there has been a lack of relevant research reports about this topic.…”

Section: Introductionmentioning

confidence: 99%

Clinical identification of expressed proteins in adrenal medullary hyperplasia detected with hypertension

Wang

Lai

et al. 2022

Front. Endocrinol.

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BackgroundHypertension remains a challenging public health problem worldwide, and adrenal gland-related diseases are one class of the major causes for secondary hypertension. Among them, one relatively rare pattern is adrenal hyperplastic hypertension caused by adrenal medullary hyperplasia (AMH), leading to excessive secretion of autonomic catecholamine. Given that the pathological changes of adrenal medulla are not well correlated to the onset and even severity of secondary hypertension, the molecular basis why some AMH patients are accompanied with hypertension remains unclear and is worth exploring.AimsFor this reason, this study aims at investigating differentially expressed proteins in clinical AMH tissue, with special focus on the potential contribution of these differentially expressed proteins to AMH development, in order to have a better understanding of mechanisms how AMH leads to secondary hypertension to some extent.Methods and resultsTo this end, AMH specimens were successfully obtained and verified through computed tomography (CT) and haematoxylin-eosin (HE) staining. Proteomic analyses of AMH and control tissues revealed 782 kinds of differentially expressed proteins. Compared with the control tissue, there were 357 types of upregulated proteins and 425 types of downregulated proteins detected in AMH tissue. Of interest, these differentially expressed proteins were significantly enriched in 60 gene ontology terms (P < 0.05), including 28 biological process terms, 14 molecular function terms, and 18 cellular component terms. Pathway analysis further indicated that 306 proteins exert their functions in at least one Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway. Western blotting showed enhanced expression of phenylethanolamine N- methyltransferase (PNMT), myelin protein zero (MPZ), and Ras-related protein Rab-3C (RAB3C), and reduced expression of cluster of differentiation 36 (CD36) observed in AMH tissue in comparison with controls.ConclusionsClinical AMH specimens display a different proteomic profile compared to control tissue. Of note, PNMT, MPZ, RAB3C, and CD36 are found to differentially expressed and can be potential targets for AMH, providing a theoretical basis for mechanistic exploration of AMH along with hypertension.

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Adrenal Medullary Hyperplasia: A Systematic Review and Meta-analysis

Ganni

Torpy

Falhammar

et al. 2023

The Journal of Clinical Endocrinology &Amp; Metabolism

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Context Adrenal medullary hyperplasia (AMH) is a rare, incompletely described disorder of the adrenal medulla that is associated with catecholamine excess. Objective To increase knowledge about AMH by reviewing the reported cases of this disorder. Design Systematic review and meta-analysis of the genotype/phenotype relationship in all reported cases of AMH. Setting Literature review and analyses. Patients or Other Participants All cases of AMH published to date. Main Outcome Measure(s) Characteristics of AMH cases and genotype-phenotype relationships. Results 66 patients, median age of 48 years, were identified from 29 reports. Over half were male (n = 39, 59%). The majority had unilateral (73%, n = 48) disease; 71% (n = 47) were sporadic and 23% (n = 15) were associated with the MEN2. Most (91%, n = 60) displayed signs and symptoms of excess catecholamine secretion, particularly hypertension. Elevated catecholamine concentrations (86%, n = 57) and adrenal abnormalities on imaging were common (80%, n = 53). Over half (58%, n = 38) had concurrent tumours: pheochromocytoma (42%, n = 16/38); medullary thyroid cancer (24%, n = 9/38); and adrenocortical adenoma (29%, n = 11/38). Most (88%, n = 58) underwent adrenalectomy with 45/58 achieving symptom resolution. Adrenalectomy was less common in patients under 40 years and those with bilateral disease (both p < 0.05). Conclusion AMH may be sporadic or associated with MEN2, most have catecholamine excess and imaging abnormalities. Unilateral involvement is more common. Most reported patients have been treated with adrenalectomy, which is usually curative with regard to catecholamine hypersecretion.

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Adrenal medullary hyperplasia mimicking pheochromocytoma

Cited by 3 publications

References 12 publications

Case Report: Three Rare Cases of Ectopic ACTH Syndrome Caused by Adrenal Medullary Hyperplasia

Case Report: Three Rare Cases of Ectopic ACTH Syndrome Caused by Adrenal Medullary Hyperplasia

Clinical identification of expressed proteins in adrenal medullary hyperplasia detected with hypertension

Adrenal Medullary Hyperplasia: A Systematic Review and Meta-analysis

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