Morphological Harbingers of ARMC5-Pathogenic Variant-Related Bilateral Macronodular Adrenocortical Disease.

Bilateral macronodular adrenocortical disease (BMAD) is a neoplastic disease associated with a high frequency of germline disease. Armadillo repeat containing 5 (ARMC5) pathogenic variants (PVs) have not been widely studied to determine the morphological and immunohistochemical characteristics of BMAD. We carried out a detailed morphologic review of 22 surgical specimens excised from patients with BMAD and compared them with PV of ARMC5 (PV + , n = 14) and those without (PV - , n = 8), and further comparing them with a control group of adrenals excised from patients with renal cancer (n = 11). No patients presented with a genetic syndrome related to BMAD. Overt Cushing's syndrome was present in 12/22 patients, 10 PV + and 2 PV - (p = 0.074). We also evaluated the expression of Ki-67, BCL-2, BAX, p53, CYP11B1, and ARMC5 protein. The pseudo-glandular and trabecular architectural patterns were strongly associated with the PV + group (both p < 0.001), as well as capsular extrusion (p < 0.001). There was no predictive value in the distinction of ARMC5 variants in Hsiao subtyping. ARMC5 diffuse cytoplasmic staining was observed in all 11 control samples. The ARMC5 expression was significantly lower in BMAD than in the control group (p < 0.001). In all the specimens, expression of BCL-2 was identified only in the medulla, and expression of BAX was observed in adrenocortical cells. CYP11B1 diffuse immunoexpression was identified in all the specimens of BMAD and in the fasciculata zone in the control group. The mitotic count and Ki-67 proliferation index was very low in all three groups (controls, PV + , and PV - BMAD). None of the specimens stained positive for the p53 protein. Although our series is limited, the presence of pseudo-glandular and/or trabecular patterns and capsular extrusion indicated the presence of pathogenic variants of ARMC5 in BMAD. The gland enlargement does not seem to be related to the increase of mitotic count or a higher proliferation index (Ki-67).

Laparoscopic right adrenalectomy in a patient with Carney syndrome: A case report.

INTRODUCTION AND IMPORTANCE: Carney complex (CNC) is an extremely infrequent multiple endocrine neoplasia syndrome characterized by distinctive pigmented skin and mucosal lesions, cardiac and noncardiac myxomatous tumors, and multiple endocrine tumors. We herein report a case of CNC and surgical and history of laparoscopic left adrenalectomy complicated with a primary pigmented nodular adrenocortical disease (PPNAD). PRESENTATION OF CASE: We present the case of a 38-year-old woman with a previous diagnosis of CNC and history of laparoscopic left adrenalectomy who consulted for severe depression refractory to medical treatment. In the laboratory tests performed, altered ACTH, prolactin, Somatomedin C-IGF-1 and estradiol. An abdomen and pelvis C/T scan was requested, where an 8 mm lesion was found at the level of the right adrenal gland. Laparoscopic right adrenalectomy was performed. Histopathology of the surgical resection specimen revealed PPNAD. DISCUSSION: CNC is an infrequent syndrome with autosomal dominant inheritance and genetically heterogeneous. PPNAD is a consistent feature in CNC patients, however, reports of Cushing's syndrome in the literature indicate that only 25-45 % of CNC patients have PPNAD. CONCLUSION: PPNAD can be present in patients with Carney complex, with surgical adrenalectomy history. With an adequate selection of patients, laparoscopic adrenalectomy with subsequent hormone replacement therapy should be performed.

Feline primary hyperaldosteronism: an emerging endocrine disease / Hiperaldosteronismo primário felino: uma enfermidade endócrina emergente

The primary hyperaldosteronism, an endocrine disease increasingly identified in cats, is characterized by adrenal gland dysfunction that interferes with the renin-angiotensin-aldosterone system, triggering the hypersecretion of aldosterone. Pathophysiological consequences of excessive aldosterone secretion are related to increased sodium and water retention, and increased excretion of potassium, which induce hypertension and severe hypokalemia, respectively. The most common clinical findings in cats include: polydipsia, nocturia, polyuria, generalized weakness, neck ventroflexion, syncope, anorexia, weight loss, pendulous abdomen and blindness. Diagnosis is based on the evidence of hormonal hypersecretion with suppression of renin release, imaging and histopathological evaluation of adrenal glands. Treatment may be curative with adrenalectomy, in cases of unilateral disease, or conservative, through administration of aldosterone antagonists, potassium supplementation and antihypertensives. Prognosis varies from fair to good with the appropriate therapy. This article reviews the main aspects of primary aldosteronism in cats, providing the clinician with important information for the diagnosis of this disease.(AU)

O hiperaldosteronismo primário, doença endrócrina cada vez mais identificada em felinos, caracteriza-se pela disfunção da glândula adrenal com interferência no sistema renina-angiotensina-aldosterona, desencadeando a hipersecreção de aldosterona. As consequências da secreção excessiva de aldosterona estão relacionadas com o aumento da retenção de sódio e água e aumento da excreção de potássio, que ocasionarão, respectivamente, hipertensão arterial sistêmica e hipocalemia grave. O diagnóstico é realizado com base na comprovação da hipersecreção hormonal com supressão da liberação de renina, além de exames de imagem e avaliação histopatológica da adrenal. O tratamento pode ser curativo, com a adrenalectomia, em enfermidades unilaterais, ou conservativo, por meio de antagonistas da aldosterona, suplementação de potássio e anti-hipertensivos. O prognóstico é bom e reservado com a terapia apropriada.(AU)

Feline primary hyperaldosteronism: an emerging endocrine disease / Hiperaldosteronismo primário felino: uma enfermidade endócrina emergente

ABSTRACT: The primary hyperaldosteronism, an endocrine disease increasingly identified in cats, is characterized by adrenal gland dysfunction that interferes with the renin-angiotensin-aldosterone system, triggering the hypersecretion of aldosterone. Pathophysiological consequences of excessive aldosterone secretion are related to increased sodium and water retention, and increased excretion of potassium, which induce hypertension and severe hypokalemia, respectively. The most common clinical findings in cats include: polydipsia, nocturia, polyuria, generalized weakness, neck ventroflexion, syncope, anorexia, weight loss, pendulous abdomen and blindness. Diagnosis is based on the evidence of hormonal hypersecretion with suppression of renin release, imaging and histopathological evaluation of adrenal glands. Treatment may be curative with adrenalectomy, in cases of unilateral disease, or conservative, through administration of aldosterone antagonists, potassium supplementation and antihypertensives. Prognosis varies from fair to good with the appropriate therapy. This article reviews the main aspects of primary aldosteronism in cats, providing the clinician with important information for the diagnosis of this disease.

RESUMO: O hiperaldosteronismo primário, doença endrócrina cada vez mais identificada em felinos, caracteriza-se pela disfunção da glândula adrenal com interferência no sistema renina-angiotensina-aldosterona, desencadeando a hipersecreção de aldosterona. As consequências da secreção excessiva de aldosterona estão relacionadas com o aumento da retenção de sódio e água e aumento da excreção de potássio, que ocasionarão, respectivamente, hipertensão arterial sistêmica e hipocalemia grave. O diagnóstico é realizado com base na comprovação da hipersecreção hormonal com supressão da liberação de renina, além de exames de imagem e avaliação histopatológica da adrenal. O tratamento pode ser curativo, com a adrenalectomia, em enfermidades unilaterais, ou conservativo, por meio de antagonistas da aldosterona, suplementação de potássio e anti-hipertensivos. O prognóstico é bom e reservado com a terapia apropriada.