Very large adrenal nodule and Cushing syndrome – when histology differs from the clinical suspicion

2021 ◽  
Author(s):  
Mariana Lavrador ◽  
Carolina Moreno ◽  
Barros Luísa ◽  
Isabel Paiva
Author(s):  
Chiboub M ◽  
◽  
Kammoun I ◽  
Gharbi R ◽  
Kammoun H ◽  
...  

Ectopic Cushing syndrome (ECS) is difficult to diagnose and has a poor prognosis. We report a case of a 44-year-old male who was admitted for clinical suspicion of Cushing’s syndrome. The investigations confirmed the diagnosis of ECS. No tumor was detected in preliminary imaging tests. Then, the octreoscan showed a fixation in a suspect lung node in the middle lobe. The patient was treated initially with medical drugs, he underwent a right middle lobectomy, and yet histopathology did not reveal any nodule. However, the outcome was the healing of our patient. We reviewed published articles to access new diagnostic techniques or advantages in the treatment regimen and a prognosis of ECS. Keywords: ectopic cushing’s syndrome; paraneoplastic syndromes; lung cancer.


Author(s):  
Carine Ghassan Richa ◽  
Khadija Jamal Saad ◽  
Georges Habib Halabi ◽  
Elie Mekhael Gharios ◽  
Fadi Louis Nasr ◽  
...  

Summary The objective of this study is to report three cases of paraneoplastic or ectopic Cushing syndrome, which is a rare phenomenon of the adrenocorticotropic hormone (ACTH)-dependent Cushing syndrome. Three cases are reported in respect of clinical presentation, diagnosis and treatment in addition to relevant literature review. The results showed that ectopic ACTH secretion can be associated with different types of neoplasm most common of which are bronchial carcinoid tumors, which are slow-growing, well-differentiated neoplasms with a favorable prognosis and small-cell lung cancer, which are poorly differentiated tumors with a poor outcome. The latter is present in two out of three cases and in the remaining one, primary tumor could not be localized, representing a small fraction of patients with paraneoplastic Cushing. Diagnosis is established in the setting of high clinical suspicion by documenting an elevated cortisol level, ACTH and doing dexamethasone suppression test. Treatment options include management of the primary tumor by surgery and chemotherapy and treating Cushing syndrome. Prognosis is poor in SCLC. We concluded that in front of a high clinical suspicion, ectopic Cushing syndrome diagnosis should be considered, and identification of the primary tumor is essential. Learning points: Learning how to suspect ectopic Cushing syndrome and confirm it among all the causes of excess cortisol. Distinguish between occult and severe ectopic Cushing syndrome and etiology. Providing the adequate treatment of the primary tumor as well as for the cortisol excess. Prognosis depends on the differentiation and type of the primary malignancy.


2019 ◽  
Vol 104 (11) ◽  
pp. 5651-5657
Author(s):  
Guido Di Dalmazi ◽  
Henri J L M Timmers ◽  
Giorgio Arnaldi ◽  
Benno Küsters ◽  
Marina Scarpelli ◽  
...  

Abstract Context Prolonged adrenal stimulation by corticotropin, as in long-standing Cushing disease (CD), leads to diffuse to nodular hyperplasia. Adrenal functional autonomy has been described in a subset of patients with CD, leading to the hypothesis of transition from ACTH-dependent to ACTH-independent hypercortisolism. Objective With the consideration that the catalytic α subunit of protein kinase A (PKA; PRKACA) somatic mutations are the most common finding in adrenal adenomas associated with ACTH-independent Cushing syndrome, our aim was to analyze PRKACA mutations in adrenals of patients with persistent/long-standing CD. Design Cross-sectional. Setting University hospital. Patients Two patients with long-standing CD and suspicion of coexistence of autonomous adrenal hyperfunction, according to pre and postoperative evaluations, were selected for this study, following an intensive literature search and patient-chart reviewing. Intervention Clinical data were analyzed. DNA was extracted from adrenal tissue for PRKACA sequencing. PKA activity was assayed. Main Outcome Measure PRKACA somatic mutations. Results Both patients showed mutations of PRKACA in the macronodule in the context of micronodular adrenal hyperplasia. One patient harbored the previously described p.Leu206Arg substitution, whereas a p.Ser213Arg missense variation was detected in the adrenal nodule of the second patient. No mutations were detected in the adjacent adrenal cortex of the second patient. In silico analysis predicts that p.Ser213Arg can interfere with the interaction between the regulatory and catalytic subunits of PKA. Conclusions Our study shows that PRKACA somatic mutations can be found in adrenal nodules of patients with CD. These genetic alterations could represent a possible mechanism underlying adrenal nodule formation and autonomous cortisol hyperproduction in a subgroup of patients with long-standing CD.


2017 ◽  
Vol 23 ◽  
pp. 179
Author(s):  
Sandeep Donagaon ◽  
Pramila Kalra ◽  
Anil Kumar ◽  
K. Harish ◽  
Shamim Sheik ◽  
...  

Author(s):  
Roberta Battini ◽  
Enrico Bertini ◽  
Roberta Milone ◽  
Chiara Aiello ◽  
Rosa Pasquariello ◽  
...  

Abstract PRUNE1-related disorders manifest as severe neurodevelopmental conditions associated with neurodegeneration, implying a differential diagnosis at birth with static encephalopathies, and later with those manifesting progressive brain damage with the involvement of both the central and the peripheral nervous system.Here we report on another patient with PRUNE1 (p.Asp106Asn) recurrent mutation, whose leukodystrophy, inferior olives hyperintensity, and macrocephaly led to the misleading clinical suspicion of Alexander disease. Clinical features, together with other recent descriptions, suggest avoiding the term “microcephaly” in defining this disorder that could be renamed “neurodevelopmental disorder with progressive encephalopathy, hypotonia, and variable brain anomalies” (NPEHBA).


2016 ◽  
Author(s):  
C Robles Lazaro ◽  
L P Llamocca Portella ◽  
A I Sanchez Marcos ◽  
A Herrero Ruiz ◽  
H S Villanueva Alvarado ◽  
...  

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