Differences in intraoperative and surgical outcomes between normotensive pheochromocytomas and sympathetic paragangliomas (PPGLs) and hypertensive PPGLs: results from the PHEO-RISK STUDY.

PURPOSE: To compare the intraoperative and surgical outcomes of normotensive pheochromocytomas and sympathetic paragangliomas (PPGLs), hypertensive PPGLs and non-PPGL adrenal lesions. METHODS: This a retrospective multicenter cohort study of patients with PPGLs from 18 tertiary hospitals. A control group of histologically confirmed adrenocortical adenomas (non-PPGL group) was selected to compare intraoperative and surgical outcomes with of the normotensive PPGLs. RESULTS: Two hundred and ninety-six surgeries performed in 289 patients with PPGLs were included. Before surgery, 209 patients were classified as hypertensive PPGLs (70.6%) and 87 as normotensive PPGLs. A higher proportion of normotensive PPGLs than hypertensive PPGLs did not receive alpha presurgical blockade (P = 0.009). When we only considered those patients who received presurgical alpha blockers (200 hypertensive PPGLs and 76 normotensive PPGLs), hypertensive PPGLs had a threefold higher risk of intraoperative hypertensive crisis (OR 3.0 [95% 1.3-7.0]) and of hypotensive episodes (OR 2.9 [95% CI 1.2-6.7]) than normotensive PPGLs. When we compared normotensive PPGLs (n = 76) and non-PPGLs (n = 58), normotensive PPGLs had a fivefold higher risk of intraoperative complications (OR 5.3 [95% CI 1.9-14.9]) and a six times higher risk of postoperative complications (OR 6.1 [95% CI 1.7-21.6]) than non-PPGLs. CONCLUSION: Although the risk of intraoperative hypertensive and hypotensive episodes in normotensive PPGLs is significantly lower than in hypertensive PPGLs, normotensive PPGLs have a greater risk of intraoperative and postoperative complications than non-PPGL adrenal lesions. Therefore, it is recommended to follow the standard of care for presurgical and anesthetic management of PPGLs also in normotensive PPGLs.

Prevalence, risk factors and evolution of diabetes mellitus after treatment in primary aldosteronism. Results from the SPAIN-ALDO registry.

PURPOSE: To evaluate the prevalence, risk factors and evolution of diabetes mellitus (DM) after targeted treatment in patients with primary aldosteronism (PA). METHODS: A retrospective multicenter study of PA patients in follow-up at 27 Spanish tertiary hospitals (SPAIN-ALDO Register). RESULTS: Overall, 646 patients with PA were included. At diagnosis, 21.2% (n = 137) had DM and 67% of them had HbA1c levels < 7%. In multivariate analysis, family history of DM (OR 4.00 [1.68-9.53]), the coexistence of dyslipidemia (OR 3.57 [1.51-8.43]) and advanced age (OR 1.04 per year of increase [1.00-1.09]) were identified as independent predictive factors of DM. Diabetic patients were on beta blockers (46.7% (n = 64) vs. 27.5% (n = 140), P < 0.001) and diuretics (51.1% (n = 70) vs. 33.2% (n = 169), p < 0.001) more frequently than non-diabetics. After a median follow-up of 22 months [IQR 7.5-63.0], 6.9% of patients developed DM, with no difference between those undergoing adrenalectomy and those treated medically (HR 1.07 [0.49-2.36], p = 0.866). There was also no significant difference in the evolution of glycemic control between DM patients who underwent surgery and those medically treated (p > 0.05). CONCLUSION: DM affects about one quarter of patients with PA and the risk factors for its development are common to those of the general population. Medical and surgical treatment provides similar benefit in glycemic control in patients with PA and DM.

Tumour size in adrenal tumours: its importance in the indication of adrenalectomy and in surgical outcomes-a single-centre experience.

OBJECTIVE: To evaluate the relevance of tumour size in adrenal tumours in the estimation of malignancy risk and in the outcomes of adrenalectomy. METHODS: We evaluate the histological results and surgical outcomes (intraoperative and postsurgical complications) in a retrospective single-centre cohort of patients without history of active extraadrenal malignancy with adrenal tumours consecutively operated in our centre during January 2010 and December 2020. We compared these results in lesions smaller and larger than 40, 50, and 60 mm. RESULTS: Of 131 patients with adrenal tumours who underwent adrenalectomy, 76 (58.0%) had adrenal masses measuring ≥ 40 mm; 47 were > 50 mm and 28 > 60 mm. The final diagnosis was adrenocortical carcinoma (ACC) in 7 patients, pheochromocytoma in 35, and benign lesions in the remaining. All patients with ACC had adrenal masses > 50 mm, with Hounsfield units > 40 and low lipidic content in the CT. The risk of ACC and pheochromocytoma increased as tumour size did. The diagnostic accuracy of tumour size was quite good for the prediction of ACC (AUC-ROC 0.883). Nevertheless, when only adrenal tumours with HU < 40 were considered, the risk of ACC was 0% independent of tumour size. For pheochromocytomas, the risk was of 8.6% independent of tumour size for lesions with < 20HU. The risk of intraoperative and postoperative complications was independent of tumour size. CONCLUSION: Risk of malignancy and of pheochromocytoma increased as tumour size increased, but, in the presurgical estimation of malignancy risk and of pheochromocytoma, not only tumour size, also lipidic content and other radiological features, should be considered. The risk of complications was independent of tumour size, but hospital stay was longer in patients with complication or open approach.

Is it possible to predict the development of diabetes insipidus after pituitary surgery? Study of 241 endoscopic transsphenoidal pituitary surgeries.

PURPOSE: To identify presurgical and surgical factors associated with the development of diabetes insipidus (DI) after pituitary adenoma (PA) resection through an endoscopic endonasal transsphenoidal approach. METHODS: Data from 231 patients with functioning and non-functioning PAs who underwent an endoscopic endonasal transsphenoidal approach in the last ten years. RESULTS: 231 patients with 241 pituitary surgeries were included. Eighty-five percent harbored macroadenomas and 38.1% of them were invasive. After pituitary surgery, 12.5% (n = 30) developed transient DI and 5.0% (n = 12) permanent DI. The global risk of DI was higher in patients younger than 65 years (OR = 2.94, p = 0.029), with total tumoral resection (OR = 2.86, p = 0.007) and with diaphragm opening during pituitary resection (OR = 3.63, p = 0.0003). Once postoperative DI developed, the risk of permanent DI increased in those patients with larger PA (OR = 1.07 for each mm of craniocaudal diameter, p = 0.020), especially in those greater than 30 mm (OR = 8.33, p = 0.004). Moreover, diaphragm opening during pituitary resection (OR = 28.3, p = 0.018) predicted long-term DI independently of pituitary tumor size. The risk of permanent DI increased as PA craniocaudal diameter increased (r = 0.20, p = 0.002). CONCLUSION: In patients with PAs younger than 65 years, in whom diaphragm has been opened during pituitary surgery and/or with a total tumor resection, special hydric balance monitoring should be maintained in the postoperative period due to the increased risk of developing DI. The risk of permanent DI increases as PA craniocaudal diameter increased.

Predictive model of surgical remission in acromegaly: age, presurgical GH levels and Knosp grade as the best predictors of surgical remission.

PURPOSE: To identify presurgical clinical, hormonal and radiological variables associated with surgical remission in acromegaly and develop a predictive model for surgical remission. METHODS: Ambispective study of acromegaly surgical patients followed in two Spanish tertiary hospitals. Patients operated by the same neurosurgeon by endonasal endoscopic transsphenoidal approach (n = 49) were included to develop the predictive model, and patients operated by other neurosurgeons (n = 37) were used for external validation of the predictive model. The predictive model was developed with a multivariate logistic regression model based on the 2000 criteria. RESULTS: 86 acromegalic patients were included. 49 patients, 83.7% with macroadenomas and 32.7% with Knosp grade > 2, were included for the development of the predictive model. The overall rate of surgical remission with the 2000 criteria was 73.5% and 51.0% with the 2010 criteria. Using the 2000 criteria, variables associated with surgical remission were: older age (OR = 1.1, p = 0.001), lower basal presurgical GH levels (OR = 0.9, p = 0.003), Knosp 0-2 (OR = 34.1, p < 0.0001) and lower maximum pituitary adenoma diameter (OR = 0.9, p = 0.019). The model with the best diagnostic accuracy to predict surgical remission combined age, Knosp 0-2 and presurgical GH levels (AIC = 29.7, AUC = 0.95) with a sensitivity of 93.8% and a specificity of 75.0%. The estimated loss of prediction with the external validation (n = 37) was 4.2%. CONCLUSION: The predictive model with the best diagnosis accuracy for surgical remission combined age, Knosp 0-2 and presurgical GH levels, with a sensitivity of 93.8% and a specificity of 75.0%. This model could be very useful to select candidates to preoperative medical treatment and planning the follow-up.

Maximum adenoma diameter, regardless of uni- or bilaterality, is a risk factor for autonomous cortisol secretion in adrenal incidentalomas.

PURPOSE: To evaluate differences between patients with unilateral and bilateral adrenal incidentalomas (AIs) in the prevalence of autonomous cortisol secretion (ACS) and related comorbidities. METHODS: In this multicentre retrospective study, AIs ≥ 1 cm without overt hormonal excess were included in the study. ACS was defined by a post-dexamethasone suppression test (DST) serum cortisol ≥ 5.0 µg/dl, in the absence of signs of hypercortisolism. For the association of ACS with the prevalence of comorbidities, post-DST serum cortisol was also analysed as a continuous variable. RESULTS: Inclusion criteria were met by 823 patients, 66.3% had unilateral and 33.7% bilateral AIs. ACS was demonstrated in 5.7% of patients. No differences in the prevalence of ACS and related comorbidities were found between bilateral and unilateral AIs (P > 0.05). However, we found that tumour size was a good predictor of ACS (OR = 1.1 for each mm, P < 0.001), and the cut-off of 25 mm presented a good diagnostic accuracy to predict ACS (sensitivity of 69.4%, specificity of 74.1%). During a median follow-up time of 31.2 (IQR = 14.4-56.5) months, the risk of developing dyslipidaemia was increased in bilateral compared with unilateral AIs (HR = 1.8, 95% CI = 1.1-3.0 but, this association depended on the tumour size observed at the end of follow-up (HR adjusted by last visit-tumour size = 0.9, 95% CI = 0.1-16.2). CONCLUSIONS: Tumour size, not bilaterality, is associated with a higher prevalence of ACS. During follow-up, neither tumour size nor bilaterality were associated with the development of new comorbidities, yet a larger tumour size after follow-up explained the association of bilateral AIs with the risk of dyslipidaemia.

Protocol for presurgical and anesthetic management of pheochromocytomas and sympathetic paragangliomas: a multidisciplinary approach.

OBJECTIVE: To offer a practical guide for the presurgical and anesthetic management of pheochromocytomas and sympathetic paragangliomas (PGLs). METHODS: This protocol was based on a comprehensive review of the literature and on our own multidisciplinary team's experience from managing pheochromocytoma and sympathetic PGLs at a referral center. RESULTS: Patients with pheochromocytomas and sympathetic paragangliomas (PGLs) may develop potentially life-threatening complications, especially during surgical procedures. A complete biochemical, radiological, genetic, and cardiological assessment is recommended in the preoperative stage as it provides an evaluation of the risk of surgical complications and malignancy, allowing individualization of the presurgical treatment. Treatment with α-blockade and proper volume expansion in the preoperative stage significantly reduces the perioperative morbidity. During surgery, the anesthesiologist should look for a deep anesthetic level that inhibits the cardiovascular effects of catecholamines to minimize the risk of intraoperative complications. CONCLUSIONS: An optimal presurgical evaluation of pheochromocytomas/ sympathetic PGL requires a multidisciplinary approach, including a complete hormonal, radiological, cardiac, genetic, and functioning evaluation in most cases. A proper preoperative evaluation in combination with strict blood pressure and heart rate control, and blood volume status optimization, will significantly reduce the risk of intraoperative and perioperative complications. In those patients who unfortunately develop intraoperative complications, the role of the anesthesiologist is essential since the selection of the appropriate management has a direct impact on morbimortality reduction.

Primary aldosteronism: Practical recommendations for treatment and follow-up.

Primary aldosteronism (PA) is the most common cause of secondary arterial hypertension. For unilateral cases, surgery offers the possibility of cure, with unilateral adrenalectomy being the treatment of choice, whereas bilateral forms of PA are treated mainly with mineralocorticoid receptor antagonists (MRA). The goals of treatment for PA due to either unilateral or bilateral adrenal disease include reversal of the adverse cardiovascular effects of hyperaldosteronism, normalization of serum potassium in patients with hypokalemia, and normalization of blood pressure. The Primary Aldosteronism Surgery Outcome group (PASO) published a study defining clinical and biochemical outcomes based on blood pressure and correction of hypokalemia and aldosterone to renin ratio (ARR) levels for patients undergoing total unilateral adrenalectomy for unilateral PA. In this review, we provide several practical recommendations for the medical and surgical management and follow-up of patients with PA.

Surgical and postsurgical management of abdominal paragangliomas and pheochromocytomas.

PURPOSE: To describe our current protocol for surgical and postsurgical management of abdominal paragangliomas (PGLs) and pheochromocytomas, with a special focus on multidisciplinary management in centres with experience. METHODS: The physicians involved in the management of patients with abdominal PGLs and pheochromocytomas of our hospital reviewed systematically current knowledge on the surgical management of abdominal PGLs and pheochromocytomas. RESULTS: Currently, surgery is considered the treatment of choice for abdominal PGLs and pheochromocytomas. The choice of surgical approach is determined based on the location of the lesion, size, patient́s body habitus and the likelihood of malignancy. Laparoscopic surgery is usually considered the gold standard approach for pheochromocytomas, but open access should be considered in invasive and/or potentially malignant tumours >8-10 cm and for abdominal PGLs. Postsurgical management of pheochromocytomas and PGLs includes close hemodynamic monitoring and treatment of postsurgical complications, the pathological study of the surgical specimen, reassessment of hormonal and/or radiological status and planning of follow-up based on the risk of recurrence and malignancy. CONCLUSION: Surgery represents the treatment of choice of most abdominal PGLs and pheochromocytomas. Optimal postsurgical evaluation, including hemodynamic, pathological, hormonal, and radiological evaluation, should be performed by a multidisciplinary team specializing in PGL/pheochromocytoma management.

Familial forms and molecular profile of primary hyperaldosteronism.

Primary hyperaldosteronism (PAH) is the most frequent cause of secondary arterial hypertension. Most PAHs occur sporadically, but 5% of cases have a hereditary origin (familial PAH). Four forms of familial PAH have been described. Type I familial PAH is produced by a fusion of the CYP11B2 and CYP11B1 genes, in this way the synthesis of aldosterone becomes to be regulated by ACTH instead of by angiotensin II. In type II, III and IV familial PAH there is an increase in the transcription and expression of CYP11B2 responsible for aldosterone synthesis due to a germinal mutation in CLCN2, KCNJ5 and CACNA1H, respectively. On the other hand, somatic mutations have been identified in 50% of sporadic PAHs, with gain-of-function mutations at the level of KCNJ5, ATP1A1, ATP2B3 and CACNA1D being the most common. This review provides a detailed description of the different forms of familial PAH and the molecular profile of patients with sporadic PAH.

Prevalence and phenotype of primary bilateral macronodular adrenal hyperplasia with autonomous cortisol secretion: a study of 98 patients.

AIM: This study evaluated prevalence of primary bilateral macronodular adrenal hyperplasia (PBMAH). It also analyzed the differential phenotype of patients with PBMAH compared to other bilateral adrenal lesions that do not meet the definition of PBMAH. METHODS: We reviewed the medical records of 732 patients diagnosed with an adrenal incidentaloma at our center. Ninety-eight patients with subclinical hypercortisolism were included in the analysis. We defined PBMAH as the presence of plasma cortisol > 1.8 µg/dL after an over-night 1-mg dexamethasone test, bilateral adrenal hyperplasia, and bilateral adrenal nodules > 1 cm. RESULTS: A total of 31 patients had PBMAH. Patients with PBMAH showed greater prevalence of autonomous cortisol secretion (plasma cortisol > 5.0 µg/dL after an overnight 1-mg dexamethasone test) than patients without PBMAH (OR 4.1, 95%CI 1.38-12.09, p = 0.010). Tumor size and total adenomatous mass were significantly greater in patients with PBMAH compared to patients without PBMAH (30.2 ±â€¯12.16 vs. 24.3 ±â€¯8.47 mm, p = 0.010 and 53.9 ±â€¯20.8 vs. 43.3 ±â€¯14.62 mm, p = 0.023), respectively. A greater proportion of patients with PBMAH had diabetes compared to patients without PBMAH (45.2% vs. 25.4%, p = 0.05). CONCLUSION: PBMAH is present in one-third of patients with adrenal incidentaloma and subclinical hypercortisolism. Patients with PBMAH showed greater autonomous cortisol secretion, bigger tumor size, and higher rates of diabetes than those without PBMAH.

Postoperative management of patients with pituitary tumors submitted to pituitary surgery. Experience of a Spanish Pituitary Tumor Center of Excellence.

There is a lack of evidence on timing, frequency, and duration of postoperative endocrine, radiologic, and ophthalmologic assessments that should be performed after pituitary surgery (PS). However, it is known that careful optimization of treatment and follow-up strategies as well as a multidisciplinary approach may have a significant impact on long-term outcomes, improving surgical results, minimize complications and facilitate their correct treatment if occurring, and optimize the hormonal, ophthalmological, and radiological reassessment throughout the follow-up. Considering that there are no specific guidelines on the postoperative management of patients with pituitary tumors (PT), we present our protocol for the postoperative management of patients with PT. It has been elaborated by the multidisciplinary team of a Spanish Pituitary Tumor Center of Excellence (PTCE) that includes at least one neurosurgeon, ENT, neuroradiologist, neuro-ophthalmologist, endocrine pathologist and endocrinologist specialized in pituitary diseases. We elaborated this guideline with the aim of sharing our experience with other centers involved in the management of PT thereby facilitating the postoperative management of patients submitted to PS.

Primary aldosteronism: Practical recommendations for treatment and follow-up / Hiperaldosteronismo primario: recomendaciones prácticas de tratamiento y seguimiento

Primary aldosteronism (PA) is the most common cause of secondary arterial hypertension. For unilateral cases, surgery offers the possibility of cure, with unilateral adrenalectomy being the treatment of choice, whereas bilateral forms of PA are treated mainly with mineralocorticoid receptor antagonists (MRA). The goals of treatment for PA due to either unilateral or bilateral adrenal disease include reversal of the adverse cardiovascular effects of hyperaldosteronism, normalization of serum potassium in patients with hypokalemia, and normalization of blood pressure. The Primary Aldosteronism Surgery Outcome group (PASO) published a study defining clinical and biochemical outcomes based on blood pressure and correction of hypokalemia and aldosterone to renin ratio (ARR) levels for patients undergoing total unilateral adrenalectomy for unilateral PA. In this review, we provide several practical recommendations for the medical and surgical management and follow-up of patients with PA. (AU)

El hiperaldosteronismo primario (HAP) es la causa más frecuente de hipertensión arterial secundaria. Para los casos unilaterales, la cirugía ofrece la posibilidad de curación, siendo la adrenalectomía unilateral el tratamiento de elección, mientras que las formas bilaterales de HAP se tratan principalmente con antagonistas del receptor de mineralocorticoides (ARM). Los objetivos del tratamiento del HAP debido a enfermedad suprarrenal unilateral o bilateral incluyen la reversión de los efectos cardiovasculares adversos del hiperaldosteronismo, la normalización del potasio sérico en pacientes con hipopotasemia y la normalización de la presión arterial. El grupo Primary Aldosteronism Surgery Outcome (PASO) publicó un estudio que define los resultados clínicos y bioquímicos en función de la presión arterial y la corrección de la hipopotasemia y los niveles del cociente aldosterona/renina (ARR) para pacientes sometidos a adrenalectomía unilateral total por HAP unilateral. En esta revisión ofrecemos varias recomendaciones prácticas para el manejo y el seguimiento médico-quirúrgico de los pacientes con HAP. (AU)

Manejo quirúrgico y posquirúrgico de paragangliomas abdominales y feocromocitomas / Surgical and postsurgical management of abdominal paragangliomas and pheochromocytomas

Objetivo Describir nuestro protocolo actual para el manejo quirúrgico y posquirúrgico de los paragangliomas abdominales (PGL) y los feocromocitomas, con especial atención en el manejo multidisciplinar en centros con experiencia. Métodos Los facultativos implicados en el tratamiento de pacientes con PGL abdominales y feocromocitomas de nuestro hospital revisaron sistemáticamente la evidencia científica actualmente disponible sobre el tratamiento quirúrgico de los PGL abdominales y feocromocitomas. Resultados La cirugía se considera el tratamiento de primera elección para los PGL abdominales y feocromocitomas. La decisión sobre el tipo de abordaje quirúrgico se basa en la localización y el tamaño de la lesión, la constitución corporal del paciente y la probabilidad estimada de malignidad. La cirugía laparoscópica suele considerarse el abordaje de referencia para los feocromocitomas, pero en los tumores invasivos y/o potencialmente malignos de más de 8-10 cm y en los PGL abdominales debe considerarse el abordaje abierto. El tratamiento posquirúrgico de los feocromocitomas y los PGL incluye una monitorización hemodinámica estrecha, el tratamiento de las complicaciones posoperatorias, el estudio patológico de la muestra quirúrgica, la reevaluación del estado hormonal y/o radiológico y la planificación del seguimiento en función del riesgo de recurrencia y malignidad. Conclusión La cirugía representa el tratamiento de elección de la mayoría de los PGL abdominales y feocromocitomas. La evaluación posoperatoria óptima, que incluye la evaluación hemodinámica, patológica, hormonal y radiológica, debe ser realizada por un equipo multidisciplinar especializado en el tratamiento de PGL/feocromocitomas (AU)

Purpose To describe our current protocol for surgical and postsurgical management of abdominal paragangliomas (PGLs) and pheochromocytomas, with a special focus on multidisciplinary management in centres with experience. Methods The physicians involved in the management of patients with abdominal PGLs and pheochromocytomas of our hospital reviewed systematically current knowledge on the surgical management of abdominal PGLs and pheochromocytomas. Results Currently, surgery is considered the treatment of choice for abdominal PGLs and pheochromocytomas. The choice of surgical approach is determined based on the location of the lesion, size, patient́s body habitus and the likelihood of malignancy. Laparoscopic surgery is usually considered the gold standard approach for pheochromocytomas, but open access should be considered in invasive and/or potentially malignant tumours > 8-10 cm and for abdominal PGLs. Postsurgical management of pheochromocytomas and PGLs includes close hemodynamic monitoring and treatment of postsurgical complications, the pathological study of the surgical specimen, reassessment of hormonal and/or radiological status and planning of follow-up based on the risk of recurrence and malignancy. Conclusion Surgery represents the treatment of choice of most abdominal PGLs and pheochromocytomas. Optimal postsurgical evaluation, including hemodynamic, pathological, hormonal, and radiological evaluation, should be performed by a multidisciplinary team specializing in PGL/pheochromocytoma management (AU)

Familial forms and molecular profile of primary hyperaldosteronism / Formas familiares y perfil molecular del hiperaldosteronismo primario

Primary hyperaldosteronism (PAH) is the most frequent cause of secondary arterial hypertension. Most PAHs occur sporadically, but 5% of cases have a hereditary origin (familial PAH). Four forms of familial PAH have been described. Type I familial PAH is produced by a fusion of the CYP11B2 and CYP11B1 genes, in this way the synthesis of aldosterone becomes to be regulated by ACTH instead of by angiotensin II. In type II, III and IV familial PAH there is an increase in the transcription and expression of CYP11B2 responsible for aldosterone synthesis due to a germinal mutation in CLCN2, KCNJ5 and CACNA1H, respectively. On the other hand, somatic mutations have been identified in 50% of sporadic PAHs, with gain-of-function mutations at the level of KCNJ5, ATP1A1, ATP2B3 and CACNA1D being the most common. This review provides a detailed description of the different forms of familial PAH and the molecular profile of patients with sporadic PAH. (AU)

El hiperaldosteronismo primario (HAP) es la causa más frecuente de hipertensión arterial secundaria. La mayor parte de los HAP ocurren de forma esporádica, pero un 5% de los casos tienen un origen hereditario (HAP familiar). Se conocen 4 formas de HAP familiares. El HAP familiar tipo I se produce por una fusión de los genes CYP11B2 y CYP11B1, de esta forma la síntesis de aldosterona pasa a estar regulada por la ACTH en vez de por la angiotensina II. En el HAP familiar tipo II, III y IV se produce un aumento de la transcripción y expresión de CYP11B2, responsable de la síntesis de aldosterona debido a una mutación germinal en CLCN2, KCNJ5 y CACNA1H, respectivamente. Por otra parte, se han identificado mutaciones somáticas en un 50% de los HAP esporádicos, siendo las mutaciones de ganancia de función a nivel de KCNJ5, ATP1A1, ATP2B3 y CACNA1D las más frecuentes. En esta revisión se ofrece una descripción detallada de las distintas formas de HAP familiar y sobre el perfil molecular de los pacientes con HAP esporádico. (AU)

Prevalencia y fenotipo de la hiperplasia suprarrenal macronodular bilateral primaria con secreción autónoma de cortisol: un estudio de 98 pacientes / Prevalence and phenotype of primary bilateral macronodular adrenal hyperplasia with autonomous cortisol secretion: a study of 98 patients

Objetivo Se evaluó la prevalencia de hiperplasia suprarrenal macronodular bilateral primaria (PBMAH). También se analizó el fenotipo diferencial de los pacientes con PBMAH en comparación con otras lesiones suprarrenales bilaterales que no cumplían con la definición de PBMAH. Métodos Revisamos las historias clínicas de 732 pacientes diagnosticados de incidentaloma suprarrenal en nuestro centro. Se incluyeron 98 pacientes con hipercortisolismo subclínico para el análisis. Se definió PBMAH como la presencia de cortisol plasmático > 1,8 μg/dL después de una prueba de 1 mg de dexametasona durante la noche, hiperplasia suprarrenal bilateral y nódulos suprarrenales bilaterales > 1 cm. Resultados Un total de 31 pacientes tenían PBMAH. Los pacientes con PBMAH mostraron una mayor prevalencia de secreción autónoma de cortisol (cortisol plasmático > 5,0 μg/dL después de la prueba de 1 mg de dexametasona durante la noche) que los pacientes sin PBMAH (OR 4,1, IC del 95%: 1,38-12,09, p = 0,010). El tamaño del tumor y la masa adenomatosa total fueron significativamente mayores en pacientes con PBMAH en comparación con los pacientes sin PBMAH (30,2 ± 12,16 vs. 24,3 ± 8,47 mm, p = 0,010 y 53,9 ± 20,8 vs. 43,3 ± 14,62 mm, p = 0,023), respectivamente. Una mayor proporción de pacientes con PBMAH tenían diabetes en comparación con los pacientes sin PBMAH (45,2% vs. 25,4%, p = 0,05). Conclusión PBMAH está presente en un tercio de los pacientes con incidentaloma suprarrenal e hipercortisolismo subclínico. Los pacientes con PBMAH mostraron una mayor secreción autónoma de cortisol, mayor tamaño del tumor y diabetes que aquellos sin PBMAH (AU)

Aim This study evaluated prevalence of primary bilateral macronodular adrenal hyperplasia (PBMAH). It also analyzed the differential phenotype of patients with PBMAH compared to other bilateral adrenal lesions that do not meet the definition of PBMAH. Methods We reviewed the medical records of 732 patients diagnosed with an adrenal incidentaloma at our center. Ninety-eight patients with subclinical hypercortisolism were included in the analysis. We defined PBMAH as the presence of plasma cortisol > 1.8 μg/dL after an over-night 1-mg dexamethasone test, bilateral adrenal hyperplasia, and bilateral adrenal nodules > 1 cm. Results A total of 31 patients had PBMAH. Patients with PBMAH showed greater prevalence of autonomous cortisol secretion (plasma cortisol > 5.0 μg/dL after an overnight 1-mg dexamethasone test) than patients without PBMAH (OR 4.1, 95%CI 1.38-12.09, p = 0.010). Tumor size and total adenomatous mass were significantly greater in patients with PBMAH compared to patients without PBMAH (30.2 ± 12.16 vs. 24.3 ± 8.47 mm, p = 0.010 and 53.9 ± 20.8 vs. 43.3 ± 14.62 mm, p = 0.023), respectively. A greater proportion of patients with PBMAH had diabetes compared to patients without PBMAH (45.2% vs. 25.4%, p = 0.05). Conclusion PBMAH is present in one-third of patients with adrenal incidentaloma and subclinical hypercortisolism. Patients with PBMAH showed greater autonomous cortisol secretion, bigger tumor size, and higher rates of diabetes than those without PBMAH (AU)