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Biomedicines
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Adrenal Diseases: An Update
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Adrenal Diseases: An Update

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: closed (15 October 2024) | Viewed by 8683

Special Issue Editor

Dr. Marta Araujo-Castro

E-Mail Website
Guest Editor
Neuroendocrinology Unit, Endocrinology and Nutrition Department, Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain
Interests: acromegaly; primary aldosteronism; endocrine; adrenocortical carcinoma; adrenal tumours; pheochromocytoma; Cushing´s syndrome; pituitary tumours

Special Issue Information

Dear Colleagues,

Adrenal disease is among the most common reasons for a patient to seek a consultation in endocrinology. When an adrenal tumor is identified, the key clinical questions are whether it is functioning and whether it is malignant. As such, it is vital for scholars to be familiar with the imaging characteristics of adrenal tumors in order to enable appropriate diagnosis and management. In addition, hormonal study is another important point that should be evaluated in all patients with adrenal tumors as more than 40% of the cases may be associated with overt or subtle hormonal hypersecretion. The most frequent adrenal hormonal syndromes include hypercortisolism, primary hyperaldosteronism, and phaeochromocytoma. The most clinically significant pathologies of the adrenal glands are adenomas and adrenal hyperplasia, adrenocortical carcinomas, phaeochromocytomas, and metastases. Other less common diseases that affect the adrenal glands include primary adrenal insufficiency and congenital adrenal hyperplasia, among others. Several advances have occurred in the last decades, including in the development, molecular characterization, diagnosis and treatment of the different adrenal diseases.

This Research Topic will emphasize the molecular mechanisms and therapeutic approaches associated with the diagnosis and treatment of adrenal diseases (pheochromocytoma, primary aldosteronism, adrenocortical carcinoma, adrenal tumors with associated autonomous cortisol secretion, non-functioning adrenal tumors, etc.). This Special Issue welcomes original research and review articles.

Dr. Marta Araujo-Castro
Guest Editor

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Keywords

  • adrenal tumors
  • pheochromocytoma
  • primary aldosteronism
  • adrenocortical carcinoma
  • cushing syndrome
  • autonomous cortisol secretion
  • adrenal incidentalomas.

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Published Papers (6 papers)

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Research

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14 pages, 1280 KiB  
Article
The Spectrum of Adrenal Lesions in a Tertiary Referral Center
by Carmen Sorina Martin, Marian Andrei, Bianca Alina Voicu, Miruna Alexandra Riță, Ana Alice Taralunga, Anca Elena Sîrbu, Luminita Nicoleta Cima, Iulia Stoian, Carmen Gabriela Barbu, Valentin Calu, Adrian Miron and Simona Fica
Biomedicines 2024, 12(10), 2214; https://doi.org/10.3390/biomedicines12102214 - 28 Sep 2024
Viewed by 649
Abstract
Background: Adrenal tumors are a common finding in clinical practice, and only detailed evaluation may reveal secretory and metabolic abnormalities or their malignant character. We aimed to highlight epidemiological data, rates of malignancy, clinical or secretory characteristics, and the cardiometabolic implications of adrenal [...] Read more.
Background: Adrenal tumors are a common finding in clinical practice, and only detailed evaluation may reveal secretory and metabolic abnormalities or their malignant character. We aimed to highlight epidemiological data, rates of malignancy, clinical or secretory characteristics, and the cardiometabolic implications of adrenal masses. Methods: We conducted a retrospective analysis using data from the medical files of 474 patients with adrenal pathology hospitalized between January 2007 and January 2020, before the COVID-19 pandemic, using the ICD-10 codes. After applying inclusion and exclusion criteria, a total of 264 patients with adrenal tumors were enrolled in the study. Patients underwent clinical examination, abdominal imaging, and hormonal evaluation, and some of them underwent a pathological exam after adrenalectomy. Results: Median age at diagnosis was 56 (17) years, with 81.06% of patients being female. The median follow-up period was 41.5 (70) months, ranging from 6 months to 13 years. Adrenal tumors were most frequently seen in older female patients, with 83.47% of them being over 40 years old. The malignancy rate was 4.54%. Hormonally nonfunctioning tumors (71.95%) predominated, and overt hypercortisolism was present in 10.61% of patients, as was mild autonomous cortisol secretion in 5.31% of patients, primary hyperaldosteronism in 8.71% of patients, and adrenal paraganglioma in 3.41% of patients. Cardiometabolic comorbid conditions were similar in patients with functioning and nonfunctioning tumors. Conclusions: All patients with adrenal tumors should receive a complete hormonal workup and detailed malignancy risk assessment. Even though a hormonally active tumor predisposes to cardiometabolic comorbid conditions, a nonfunctioning lesion may also be associated with such disorders and needs thorough assessment. Full article
(This article belongs to the Special Issue Adrenal Diseases: An Update)
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12 pages, 453 KiB  
Article
Differences between Patients with Sporadic and Familial Pheochromocytoma—Is It Possible to Avoid Genetic Testing in Certain Patients?
by María Consuelo Muñoz, Beatriz Febrero, Miriam Abellán, Antonio Miguel Hernández and José Manuel Rodríguez
Biomedicines 2024, 12(6), 1352; https://doi.org/10.3390/biomedicines12061352 - 18 Jun 2024
Viewed by 693
Abstract
Background: Pheochromocytoma (PHEO) is a rare neuroendocrine tumour with a strong genetic link, which therefore may modify its clinical behaviour and prognosis. The aim of the study is to evaluate the epidemiological and clinical differences between patients with sporadic and familial PHEO, as [...] Read more.
Background: Pheochromocytoma (PHEO) is a rare neuroendocrine tumour with a strong genetic link, which therefore may modify its clinical behaviour and prognosis. The aim of the study is to evaluate the epidemiological and clinical differences between patients with sporadic and familial PHEO, as well as the specific differences in the index cases. Methods: A retrospective analysis of 136 patients in a tertiary hospital (1984–2021). Epidemiological, clinical, and histological variables were analysed. Statistics: SPSS 28.0 software was used. Univariate and multivariate logistic regression analyses were performed. p < 0.05 was considered statistically significant. Results: 64.71% of the cases (n = 88) presented a genetic mutation (familial cases). Additionally, 32.39% (n = 23) corresponded to index cases and the rest to screening cases. The main differences between patients with familial and sporadic PHEO were age (OR = 0.93 (0.89–0.97)), blood pressure-related symptoms (OR = 0.22 (0.06–0.89)), bilaterality (OR = 15.49 (3.76–63.84)), and size (OR = 0.70 (0.54–0.92)). Among patients with sporadic PHEO and index cases, only bilaterality was significant (OR = 13.53 (1.24–144.34)). Conclusions: Patients with familial PHEO diagnosed by screening differ from sporadic cases in terms of age, clinical features, and size. However, patients with sporadic PHEO only differ from index cases by a lower presence of bilaterality, which reaffirms the importance of genetic screening of patients with PHEO and their relatives. Full article
(This article belongs to the Special Issue Adrenal Diseases: An Update)
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18 pages, 1620 KiB  
Article
Dexamethasone Suppression Testing in a Contemporary Cohort with Adrenal Incidentalomas in Two U.S. Integrated Healthcare Systems
by Mackenzie Crawford, Bennett McDonald, Wansu Chen, Hina Chowdhry, Richard Contreras, Iris Anne C. Reyes, Eleena Dhakal, Tish Villanueva, Joshua I. Barzilay, Candace F. Vaughn, Frank S. Czerwiec, David A. Katz, Annette L. Adams and Jennifer C. Gander
Biomedicines 2023, 11(12), 3167; https://doi.org/10.3390/biomedicines11123167 - 28 Nov 2023
Viewed by 1565
Abstract
Autonomous cortisol secretion (ACS) from an adrenal adenoma can increase the risk for comorbidities and mortality. The dexamethasone suppression test (DST) is the standard method to diagnose ACS. A multi-site, retrospective cohort of adults with diagnosed adrenal tumors was used to understand patient [...] Read more.
Autonomous cortisol secretion (ACS) from an adrenal adenoma can increase the risk for comorbidities and mortality. The dexamethasone suppression test (DST) is the standard method to diagnose ACS. A multi-site, retrospective cohort of adults with diagnosed adrenal tumors was used to understand patient characteristics associated with DST completion and ACS. Time to DST completion was defined using the lab value and result date; follow-up time was from the adrenal adenoma diagnosis to the time of completion or censoring. ACS was defined by a DST > 1.8 µg/dL (50 nmol/L). The Cox proportional hazards regression model assessed associations between DST completion and patient characteristics. In patients completing a DST, a logistic regression model evaluated relationships between elevated ACS and covariates. We included 24,259 adults, with a mean age of 63.1 years, 48.1% obese, and 28.7% with a Charlson comorbidity index ≥ 4. Approximately 7% (n = 1768) completed a DST with a completion rate of 2.36 (95% CI 2.35, 2.37) per 100 person-years. Fully adjusted models reported that male sex and an increased Charlson comorbidity index were associated with a lower likelihood of DST completion. Current or former smoking status and an increased Charlson comorbidity index had higher odds of a DST > 1.8 μg/dL. In conclusion, clinical policies are needed to improve DST completion and the management of adrenal adenomas. Full article
(This article belongs to the Special Issue Adrenal Diseases: An Update)
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Graphical abstract

10 pages, 865 KiB  
Communication
Diagnostic Accuracy of Adrenal Iodine-131 6-Beta-Iodomethyl-19-Norcholesterol Scintigraphy for the Subtyping of Primary Aldosteronism
by Marta Araujo-Castro, Miguel Paja Fano, Marga González Boillos, Eider Pascual-Corrales, Ana María García Cano, Paola Parra Ramírez, Patricia Martín Rojas-Marcos, Almudena Vicente Delgado, Anna Casteràs, Albert Puig, Iñigo García Sanz, Patricia Díaz Guardiola, Cristina Robles Lázaro, Miguel Antonio Sampedro Núñez, Raquel Guerrero-Vázquez, María del Castillo Tous, Theodora Michalopoulou Alevras, Susana Tenes Rodrigo and Felicia A. Hanzu
Biomedicines 2023, 11(7), 1934; https://doi.org/10.3390/biomedicines11071934 - 7 Jul 2023
Cited by 3 | Viewed by 1675
Abstract
Purpose: To evaluate the diagnostic accuracy of the 131I-6β-iodomethyl-19-norcholesterol (NP-59) adrenal scintigraphy for the subtyping diagnosis of primary aldosteronism (PA), considering as gold standard for the diagnosis of unilateral PA (UPA), either the results of the adrenal venous sampling (AVS) or the outcome [...] Read more.
Purpose: To evaluate the diagnostic accuracy of the 131I-6β-iodomethyl-19-norcholesterol (NP-59) adrenal scintigraphy for the subtyping diagnosis of primary aldosteronism (PA), considering as gold standard for the diagnosis of unilateral PA (UPA), either the results of the adrenal venous sampling (AVS) or the outcome after adrenalectomy. Methods: A retrospective multicenter study was performed on PA patients from 14 Spanish tertiary hospitals who underwent NP-59 scintigraphy with an available subtyping diagnosis. Patients were classified as UPA if biochemical cure was achieved after adrenalectomy or/and if an AVS lateralization index > 4 with ACTH stimulation or >2 without ACTH stimulation was observed. Patients were classified as having bilateral PA (BPA) if the AVS lateralization index was ≤4 with ACTH or ≤2 without ACTH stimulation or if there was evidence of bilateral adrenal nodules >1 cm in each adrenal gland detected by CT/MRI. Results: A total of 86 patients with PA were included (70.9% (n = 61) with UPA and 29.1% (n = 25) with BPA). Based on the NP-59 scintigraphy results, 16 patients showed normal suppressed adrenal gland uptake, and in the other 70 cases, PA was considered unilateral in 49 patients (70%) and bilateral in 21 (30%). Based on 59-scintigraphy results, 10.4% of the patients with unilateral uptake had BPA, and 27.3% of the cases with bilateral uptake had UPA. The AUC of the ROC curve of the NP-59 scintigraphy for PA subtyping was 0.812 [0.707–0.916]. Based on the results of the CT/MRI and NP-59 scintigraphy, only 6.7% of the patients with unilateral uptake had BPA, and 24% of the cases with bilateral uptake had UPA. The AUC of the ROC curve of the model combining CT/MRI and 59-scintigraphy results for subtyping PA was 0.869 [0.782–0.957]. Conclusion: The results of NP-59 scintigraphy in association with the information provided by the CT/MRI may be useful for PA subtyping. However, their diagnostic accuracy is only moderate. Therefore, it should be considered a second-line diagnostic tool when AVS is not an option. Full article
(This article belongs to the Special Issue Adrenal Diseases: An Update)
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Review

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19 pages, 1159 KiB  
Review
Pheochromocytoma–Paraganglioma Syndrome: A Multiform Disease with Different Genotype and Phenotype Features
by Mara Giacché, Maria Chiara Tacchetti, Claudia Agabiti-Rosei, Francesco Torlone, Francesco Bandera, Claudia Izzi and Enrico Agabiti-Rosei
Biomedicines 2024, 12(10), 2385; https://doi.org/10.3390/biomedicines12102385 - 18 Oct 2024
Viewed by 736
Abstract
Pheochromocytoma and paraganglioma (PPGL) are rare tumors derived from the adrenal medulla and extra-adrenal chromaffin cells. Diagnosis is often challenging due to the great variability in clinical presentation; the complexity of management due to the dangerous effects of catecholamine excess and the potentially [...] Read more.
Pheochromocytoma and paraganglioma (PPGL) are rare tumors derived from the adrenal medulla and extra-adrenal chromaffin cells. Diagnosis is often challenging due to the great variability in clinical presentation; the complexity of management due to the dangerous effects of catecholamine excess and the potentially malignant behavior require in-depth knowledge of the pathology and multidisciplinary management. Nowadays, diagnostic ability has certainly improved and guidelines and consensus documents for treatment and follow-up are available. A major impulse to the development of this knowledge has come from the new findings on the genetic and molecular characteristics of PPGLs. Germline mutation in susceptibility genes is detected in 40% of subjects, with a mutation frequency of 10–12% also in patients with sporadic presentation and genetic testing should be incorporated within clinical care. PPGL susceptibility genes include “old genes” associated with Neurofibromatosis type 1 (NF1 gene), Von Hippel Lindau syndrome (VHL gene) and Multiple Endocrine Neoplasia type 2 syndrome (RET gene), the family of SDHx genes (SDHA, SDHB, SDHC, SDHD, SDHAF2), and genes less frequently involved such as TMEM, MAX, and FH. Each gene has a different risk of relapse, malignancy, and other organ involvement; for mutation carriers, affected or asymptomatic, it is possible to define a tailored long-life surveillance program according to the gene involved. In addition, molecular characterization of the tumor has allowed the identification of somatic mutations in other driver genes, bringing to 70% the PPGLs for which we know the mechanisms of tumorigenesis. This has expanded the catalog of tumor driver genes, which are identifiable in up to 70% of patients Integrated genomic and transcriptomic data over the last 10 years have revealed three distinct major molecular signatures, triggered by pathogenic variants in susceptibility genes and characterized by the activation of a specific oncogenic signaling: the pseudo hypoxic, the kinase, and the Wnt signaling pathways. These molecular clusters show a different biochemical phenotype and clinical behavior; they may also represent the prerequisite for implementing customized therapy and follow-up. Full article
(This article belongs to the Special Issue Adrenal Diseases: An Update)
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29 pages, 1096 KiB  
Review
Landscape of Adrenal Tumours in Patients with Congenital Adrenal Hyperplasia
by Mara Carsote, Ana-Maria Gheorghe, Claudiu Nistor, Alexandra-Ioana Trandafir, Oana-Claudia Sima, Anca-Pati Cucu, Adrian Ciuche, Eugenia Petrova and Adina Ghemigian
Biomedicines 2023, 11(11), 3081; https://doi.org/10.3390/biomedicines11113081 - 16 Nov 2023
Cited by 1 | Viewed by 1951
Abstract
Our aim is to update the topic of adrenal tumours (ATs) in congenital adrenal hyperplasia (CAH) based on a multidisciplinary, clinical perspective via an endocrine approach. This narrative review is based on a PubMed search of full-length, English articles between January 2014 and [...] Read more.
Our aim is to update the topic of adrenal tumours (ATs) in congenital adrenal hyperplasia (CAH) based on a multidisciplinary, clinical perspective via an endocrine approach. This narrative review is based on a PubMed search of full-length, English articles between January 2014 and July 2023. We included 52 original papers: 9 studies, 8 case series, and 35 single case reports. Firstly, we introduce a case-based analysis of 59 CAH-ATs cases with four types of enzymatic defects (CYP21A2, CYP17A1, CYP17B1, and HSD3B2). Secondarily, we analysed prevalence studies; their sample size varied from 53 to 26,000 individuals. AT prevalence among CAH was of 13.3–20%. CAH prevalence among individuals with previous imaging diagnosis of AT was of 0.3–3.6%. Overall, this 10-year, sample-based analysis represents one of the most complex studies in the area of CAH-ATs so far. These masses should be taken into consideration. They may reach impressive sizes of up to 30–40 cm, with compressive effects. Adrenalectomy was chosen based on an individual multidisciplinary decision. Many tumours are detected in subjects with a poor disease control, or they represent the first step toward CAH identification. We noted a left lateralization with a less clear pathogenic explanation. The most frequent tumour remains myelolipoma. The risk of adrenocortical carcinoma should not be overlooked. Noting the increasing prevalence of adrenal incidentalomas, CAH testing might be indicated to identify non-classical forms of CAH. Full article
(This article belongs to the Special Issue Adrenal Diseases: An Update)
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