Adrenal myelolipomas

Calissendorff, Jan; Juhlin, Carl Christofer; Sundín, Anders; Bancos, Irina; Falhammar, Henrik

doi:10.1016/s2213-8587(21)00178-9

Cited by 76 publications

(128 citation statements)

References 73 publications

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“…Adrenal cortical tumor formation is noted in approximately 24% of patients with genetically confirmed CAH, and almost 40% of patients may exhibit adrenal myelolipoma (Fig. 41 ) [ 227 , 228 ]. The reason for the overrepresentation of myelolipomas in CAH is not known.…”

Section: Question 12: What Are Correlates Of Genetic Predisposition I...mentioning

confidence: 99%

Overview of the 2022 WHO Classification of Adrenal Cortical Tumors

et al. 2022

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The new WHO classification of adrenal cortical proliferations reflects translational advances in the fields of endocrine pathology, oncology and molecular biology. By adopting a question–answer framework, this review highlights advances in knowledge of histological features, ancillary studies, and associated genetic findings that increase the understanding of the adrenal cortex pathologies that are now reflected in the 2022 WHO classification. The pathological correlates of adrenal cortical proliferations include diffuse adrenal cortical hyperplasia, adrenal cortical nodular disease, adrenal cortical adenomas and adrenal cortical carcinomas. Understanding germline susceptibility and the clonal-neoplastic nature of individual adrenal cortical nodules in primary bilateral macronodular adrenal cortical disease, and recognition of the clonal-neoplastic nature of incidentally discovered non-functional subcentimeter benign adrenal cortical nodules has led to redefining the spectrum of adrenal cortical nodular disease. As a consequence, the most significant nomenclature change in the field of adrenal cortical pathology involves the refined classification of adrenal cortical nodular disease which now includes (a) sporadic nodular adrenocortical disease, (b) bilateral micronodular adrenal cortical disease, and (c) bilateral macronodular adrenal cortical disease (formerly known primary bilateral macronodular adrenal cortical hyperplasia). This group of clinicopathological entities are reflected in functional adrenal cortical pathologies. Aldosterone producing cortical lesions can be unifocal or multifocal, and may be bilateral with no imaging-detected nodule(s). Furthermore, not all grossly or radiologically identified adrenal cortical lesions may be the source of aldosterone excess. For this reason, the new WHO classification endorses the nomenclature of the HISTALDO classification which uses CYP11B2 immunohistochemistry to identify functional sites of aldosterone production to help predict the risk of bilateral disease in primary aldosteronism. Adrenal cortical carcinomas are subtyped based on their morphological features to include conventional, oncocytic, myxoid, and sarcomatoid subtypes. Although the classic histopathologic criteria for diagnosing adrenal cortical carcinomas have not changed, the 2022 WHO classification underscores the diagnostic and prognostic impact of angioinvasion (vascular invasion) in these tumors. Microscopic angioinvasion is defined as tumor cells invading through a vessel wall and forming a thrombus/fibrin-tumor complex or intravascular tumor cells admixed with platelet thrombus/fibrin. In addition to well-established Weiss and modified Weiss scoring systems, the new WHO classification also expands on the use of other multiparameter diagnostic algorithms (reticulin algorithm, Lin–Weiss–Bisceglia system, and Helsinki scoring system) to assist the workup of adrenal cortical neoplasms in adults. Accordingly, conventional carcinomas can be assessed using all multiparameter diagnostic scheme...

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Section: Question 12: What Are Correlates Of Genetic Predisposition I...mentioning

confidence: 99%

Overview of the 2022 WHO Classification of Adrenal Cortical Tumors

et al. 2022

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“…We found the steroidogenesis score superior to serum basal 17OHP measurement and not inferior to the cosyntropin stimulation test when diagnosing nonclassic 21OHD. It is noteworthy that patients with incidentally found bilateral adrenal masses may show false-positive findings in cosyntropin stimulation test ( 48-50 ), which we found to be excluded as CAH by the steroidogenesis score.…”

Section: Discussionmentioning

confidence: 77%

A Multiclassifier System to Identify and Subtype Congenital Adrenal Hyperplasia Based on Circulating Steroid Hormones

Zhao²,

Ren

et al. 2022

The Journal of Clinical Endocrinology &Amp; Metabolism

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Context Measurement of plasma steroids is necessary for diagnosis of congenital adrenal hyperplasia (CAH). We sought to establish an efficient strategy for detection and subtyping of CAH with a machine-learning algorithm. Methods Clinical phenotype and genetic testing were used to provide CAH diagnosis and subtype. We profiled 13 major steroid hormones by liquid chromatography–tandem mass spectrometry (LC-MS/MS). A multi-classifier system was established to distinguish 11β-hydroxylase deficiency (11βOHD), 17α-hydroxylase/17,20-lyase deficiency (17OHD) and 21α-hydroxylase deficiency (21OHD) in a discovery cohort (N=226). It was then validated in an independent cohort (N=111) and finally applied in a perspective cohort of 256 patients. The diagnostic performance on the basis of area under receiver operating characteristic curves was evaluated. Results A cascade logistic regression model, we named the “Steroidogenesis Score”, was able to discriminate the three most common CAH subtypes: 11βOHD, 17OHD, 21OHD. In the perspective application cohort, the Steroidogenesis Score had a high diagnostic accuracy for all three subtypes, 11βOHD (AUC, 0.994; 95% CI, 0.983-1.000), 17OHD (AUC, 0.993; 95% CI, 0.985-1.000) and 21OHD (AUC, 0.979; 95% CI, 0.964-0.994). For nonclassic 21OHD patients, the tool presented with significantly higher sensitivity compared with measurement of basal 17α-hydroxyprogesterone (17OHP) (0.973 vs 0.840, p=0.005) and was not inferior to measurement of basal versus stimulated 17OHP (0.973 vs 0.947, p=0.681). Conclusions The Steroidogenesis Score was biochemically interpretable and showed high accuracy in identifying CAH patients, especially for nonclassic 21OHD patients, thus offering a standardized approach to diagnose and subtype CAH.

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“…Although gonadal malignancy was not noted in patients included in our review, a recent study has reported testicular malignancy in 2 genetically diagnosed 17OHD patients with late diagnosis [ 36 ]. In CAH patients, the degree of ACTH elevation has been linked to increased prevalence of TART and adrenal myelolipoma [ 37 , 38 ]. The elevation of ACTH in 17OHD is usually milder than classic 21α-hydroxylase deficiency due to compensatory glucocorticoid activity by the markedly elevated corticosterone [ 39 ].…”

Section: Discussionmentioning

confidence: 99%

17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature

Maheshwari

Arya

Lila

et al. 2022

Journal of the Endocrine Society

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Objective To describe 46,XY patients with 17α-hydroxylase/17,20-lyase deficiency (17OHD) from our center and perform literature review. Design Retrospective analysis and literature review Patients and measurements: We retrospectively analyzed genetically-proven index cases of 17OHD from our 46,XY disorders of sex development cohort and reviewed similar cases from the literature (n=150). Based on the phenotype, 17OHD probands were classified into combined severe deficiency (n=128), and combined partial deficiency (n=16). Additionally, patients with the apparent isolated 17,20-lyase deficiency (n=7, from 6 families) were noted. Residual enzyme activities with the observed mutant enzymes were arbitrarily divided in two categories as <1% and ≥1%, each for hydroxylase and lyase. Results We present four index cases of 46,XY 17OHD with a complete spectrum of undervirilization and two novel variants in CYP17A1. In the review, the combined severe deficiency was the most common form, with more frequent female sex of rearing, hypertension, hypokalemia, suppressed renin, higher plasma corticotropin, lower serum cortisol and androgens, and higher proportion had <1%/<1% enzyme activity as compared to combined partial deficiency. Immunoassay-measured serum aldosterone was frequently (68.2%) unsuppressed (>5ng/dl). Elevated serum progesterone had high sensitivity for the diagnosis of combined 17OHD, even in combined partial deficiency (83.3%). Among patients with clinical phenotype of combined severe deficiency, 11.5% of patients had partial 17α-hydroxylase and complete 17,20-lyase deficiency (>1%/<1%) and had significantly higher serum cortisol than group with <1%/<1% activity. Conclusion We report the first monocentric case series of Asian-Indian 46,XY patients with 17OHD. We propose that a phenotype of severe undervirilisation with milder cortisol deficiency may represent a distinct subtype of combined severe 17OHD with residual 17α-hydroxylase activity but severe 17,20-lyase deficiency (>1%/<1%), which needs further validation.

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Adrenal myelolipomas

Cited by 76 publications

References 73 publications

Overview of the 2022 WHO Classification of Adrenal Cortical Tumors

Overview of the 2022 WHO Classification of Adrenal Cortical Tumors

A Multiclassifier System to Identify and Subtype Congenital Adrenal Hyperplasia Based on Circulating Steroid Hormones

17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature

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