Adrenal ganglioneuroma: The Padua Endocrine Surgery Unit experience.

Background: Adrenal ganglioneuroma (AGN) is a rare tumor that originates from the gangliar cells of the sympathetic nervous system. It represents less than 5% of all adrenal masses. AGN occurs as a large mass, with benign behavior and no relevant symptoms and hormonal secretion, but it is often misdiagnosed because the preoperative radiological diagnosis is generally challenging.

Unilateral adrenal hyperplasia: a novel cause of surgically correctable primary hyperaldosteronism.

Background: Primary hyperaldosteronism may be caused by an aldosterone-producing adenoma (APA), which is correctable by unilateral adrenalectomy or by idiopathic adrenal hyperplasia, a bilateral disease without any indication for surgery. This study sought to assess the prevalence and the results of surgery in unilateral adrenal hyperplasia (UAH).

Methods: The study included 35 patients who underwent unilateral adrenalectomy because of primary hyperaldosteronism after unequivocal successful lateralization by adrenal venous sampling.

Adrenalectomy may improve cardiovascular and metabolic impairment and ameliorate quality of life in patients with adrenal incidentalomas and subclinical Cushing's syndrome.

Background: Adrenalectomy represents the definitive treatment in clinically evident Cushing's syndrome; however, the most appropriate treatment for patients with subclinical Cushing's syndrome (SCS) with an adrenal incidentaloma remains controversial. This study was aimed to assess whether adrenalectomy may improve cardiovascular and metabolic impairment and quality of life compared with conservative management.

Methods: Twenty patients with adrenal incidentaloma underwent laparoscopic adrenalectomy for SCS, whereas 15 were managed conservatively.

Is genetic screening indicated in apparently sporadic pheochromocytomas and paragangliomas?

Background: Pheochromocytoma (Pheo) is usually considered a sporadic disease. Recently, an increasing rate of genetically based tumors has been reported. However, the need for systematic screening of unsuspected germline mutations in apparently sporadic forms is still debated.

The results of surgery for mediastinal parathyroid tumors: a comparative study of 63 patients.

Purpose: Parathyroidectomy for ectopic mediastinal hyperfunctioning glands could be performed by transcervical approach, sternotomy, thoracotomy, and recently by thoracoscopic and mediastinoscopic approaches. This study was aimed to analyze the results of traditional and video-assisted parathyroidectomy for mediastinal benign hyperfunctioning glands.

Methods: Fifty-one upper mediastinal exploration by a conventional cervicotomy, 12 by video-assisted approaches (two thoracoscopy and 10 transcervical mediastinoscopy) and six by sternotomy were performed in 63 patients with primary hyperparathyroidism.

Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred.

Background: Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare autosomal disease caused by inactivating germ-line mutations of HRPT2 gene, with subsequent loss of Parafibromin expression. It is characterized by familial HPT, ossifying jaw tumors, and other associated neoplasms.

Methods: Clinical, histopathological, and genetic features of three large Italian unrelated HPT-JT kindred were assessed.

Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism.

CDC73 (HRPT2) germline mutations are responsible for more than half of cases of hyperparathyroidism-jaw tumor syndrome (HPT-JT) and for a subset of familial isolated HPT (FIHP). We performed a clinical, genetic, and histopathologic study in three unrelated Italian kindreds with HPT-JT and FIHP. We identified three germline inactivating mutations of the CDC73 gene in the probands and affected patients of the three kindreds, but also in some asymptomatic subjects.

The usefulness of preoperative ultrasonographic identification of nonrecurrent inferior laryngeal nerve in neck surgery.

Backgrounds And Aims: Nonrecurrent inferior laryngeal nerve (ILN) represents a risk factor for injury during neck surgery. It is associated to arterial abnormalities (absence of the brachiocephalic trunk and arteria lusoria) that can be identified by ultrasonography. The aim of the study was to verify the usefulness of preoperative ultrasonography in the research of nonrecurrent ILN by the means of identification of arterial abnormalities and the impact on ILN morbidity.

The role of unilateral adrenalectomy in ACTH-independent macronodular adrenal hyperplasia (AIMAH).

Background: ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing's syndrome. Bilateral adrenalectomy is considered the treatment of choice, with subsequent lifetime steroid replacement, but unilateral adrenalectomy has been recently proposed to reduce the secreting tissue. This prospective study was designed to evaluate the long-term results of unilateral adrenalectomy in AIMAH concerning the main laboratory and clinical abnormalities and the patient's quality of life.

Parafibromin expression, single-gland involvement, and limited parathyroidectomy in familial isolated hyperparathyroidism.

Background: Familial isolated hyperparathyroidism (FIHPT) is a rare syndrome linked to HRPT2 mutations, with a variable extent of parathyroid involvement. Extensive parathyroidectomy is usually indicated, but single-gland involvement is often reported. Recently, loss of parafibromin expression (caused by HRPT2 inactivating mutations) has been suggested as a distinguishing feature of FIHPT.

High risk of malignancy in patients with incidentally discovered adrenal masses: accuracy of adrenal imaging and image-guided fine-needle aspiration cytology.

Aims And Background: The incidental finding of nonfunctioning adrenal masses (incidentalomas) is common, but no reliable criteria in differentiating between benign and malignant adrenal masses have been defined. The aim of this preliminary study was to assess the usefulness of adrenal imaging and image-guided fine-needle aspiration cytology in patients with nonfunctioning adrenal incidentalomas with the aim of excluding or confirming malignancy before surgery.

Methods: Forty-two consecutive patients (18 men and 24 women; median age, 54 years; range, 25-75 years) with incidentally discovered adrenal masses of 3 cm or more in the greatest diameter were prospectively enrolled in the study.

Familial nonsyndromic pheochromocytoma.

Judging from recent data, heritable forms account for 30-40% of pheochromocytomas. The molecular basis for the familial pheochromocytoma has been largely elucidated and the role of germline mutation of the VHL, RET, SDHB, and SDHD genes has been established. However, on genotyping a group of 172 sporadic or familial pheochromocytomas, we characterized four unrelated probands with familial pheochromocytomas without any sequence variants of RET (exons 8, 10, 11, 13, 14, 15, and 16) or the entire coding sequence of VHL, SDHB, SDHC, SDHD, and EGLN3 (exon-intron boundaries included).

PCNA-LII, Ki-67 immunostaining, p53 activity and histopathological variables in predicting the clinical outcome in patients with parathyroid carcinoma.

Parathyroid carcinoma is uncommon and no reliable histological markers are available for predicting the clinical outcome of patients. The aim of this study was to assess the correlation between survival, histopatological markers, proliferating cell nuclear antigen (PCNA), Ki-67 antigen and the expression of the p53 nuclear protein in patients with confirmed parathyroid carcinoma (PC). The routine histological specimens from 15 patients (11 men, 4-women, median age 65 years) with confirmed PC who had died of the disease were reviewed.

Long-term results of adrenalectomy in patients with aldosterone-producing adenomas: multivariate analysis of factors affecting unresolved hypertension and review of the literature.

The long-term surgical cure rate of patients with primary aldosteronism varies widely, and causes of persistent hypertension are not completely established. We reviewed retrospectively charts from 98 patients (range, 19-70 years old) with aldosterone-producing adenomas who underwent unilateral adrenalectomy. At a median follow-up of 81 months (range, 18-186 months), the mean blood pressure values improved in 95 out of 98 (96.

Are frozen sections useful and cost-effective in the era of intraoperative qPTH assays?

Background: Since intraoperative quick parathormone (IOqPTH) assays are available, the role of frozen sections (FS) during parathyroid exploration has become questionable. This study compares the results of FS and IOqPTH in primary hyperparathyroidism (pHPT).

Methods: FS and IOqPTH assays were performed in 102 patients who underwent bilateral neck explorations or targeted parathyroidectomy for pHPT.

Role and cost-effectiveness of adrenal imaging and image-guided FNA cytology in the management of incidentally discovered adrenal tumours.

Incidentally discovered adrenal masses (incidentalomas) are relatively frequent and unsuspected incidentalomas (AI) of more than 1 cm in size may be found in 1-5% of patients who have undergone abdominal or chest computed tomography (CT)-scan for unrelated reasons. Once an AI is detected, the two major questions are whether the patient has biochemical evidence of adrenal hyperfunction, and whether the mass is an adrenal metastasis or a malignant adrenal tumour. In most cases (>90%) AI are non-functioning, with a low (<10%) risk of being malignant, and an estimated cumulative risk of malignant transformation of less than 1:1000.

Results of iterative surgery for persistent and recurrent parathyroid carcinoma.

Background And Aims: Parathyroid carcinoma (PC) is a rare cause of primary hyperparathyroidism. Surgery is the only effective treatment; re-operations are often required, because recurrences occur in most of the cases. The aim of this retrospective study was to analyse the rate of biochemical cure, clinical relief, sensitivity of localizing studies and morbidity after re-operations.

Up-to-date on parathyroid carcinoma: analysis of an experience of 19 cases.

Background And Objectives: Parathyroid carcinoma (PC) is a rare disease; experience with its management is limited. The aim of this retrospective study was to evaluate a relatively large series of patients suffering from PC.

Methods: Since 1980, PC was diagnosed in the 4.

High prevalence of thyroid ultrasonographic abnormalities in primary aldosteronism.

The study was performed to evaluate the prevalence of thyroid abnormalities detected by ultrasonography and, in particular, of multinodular nontoxic goiter in primary aldosteronism. We analyzed 80 consecutive of patients with primary hyperaldosteronism (40 with unilateral adenoma and 40 with idiopathic hyperaldosteronism) and 80 normotensive healthy controls, comparable for age, sex, iodine intake, and geographical area. Blood pressure, thyroid palpation, thyroid function, and ultrasonography were evaluated.