PMC7484682_01
Adrenal CT scan of the index patient.
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fig1
A 64-year-old man, referred to endocrinology due to bilateral adrenal incidentalomas on a CT scan, measuring 4 x 4.3 cm on the left and 4.3 x 4.2 cm on the right side, with characteristics of adenoma/hyperplasia (Figure 1).
PMC7484682_02
(H&E, original magnification x2.5)-Histologically, there is evidence of adrenal cortex thickening, with architectural disorganization and multinodular appearance.
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These aspects were consistent with adrenal nodular hyperplasia (Figures 2-5).
(H&E, original magnification x4 and x10)-There is ill-defined multinodular hyperplasia of the cortical fasciculata layer of the adrenal tissue.
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fig3
These aspects were consistent with adrenal nodular hyperplasia (Figures 2-5).
H&E, original magnification x4 and x10)-There is ill-defined multinodular hyperplasia of the cortical fasciculata layer of the adrenal tissue.
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fig4
These aspects were consistent with adrenal nodular hyperplasia (Figures 2-5).
(H&E, original magnification x20)-The hyperplastic cortical fasciculata layer is characterized by a large number of cord organized cells with well-defined membranes, clear and vacuolated cytoplasm and, small nuclei.
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fig5
These aspects were consistent with adrenal nodular hyperplasia (Figures 2-5).
Cerebral CT scan of the index patient.
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DNA extracted from peripheral blood leucocyte and in the adrenal gland revealed the presence in heterozygosity of the pathogenic mutation c.1379T < C in the ARMC5 gene, which encodes the protein variant p(Leu460Pro). Due to this finding, the patient underwent a cerebral CT scan, which showed a meningioma in the posterior left temporal convexity (Figure 6).
Family tree: 1. Proband, 2. affected daughter, 3. healthy son. Circles: females; squares: males.
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fig7
They were also tested for hypercortisolism and underwent adrenal and cerebral CT scan (Figure 7).