CaSR Gene Polymorphisms and PHPT Phenotypes: What Else Can We Learn? A Single-Center Experience on a Cohort of Italian Patients.

This study investigates the role of CASR gene polymorphisms (A986S, R990G, Q1011E) in PHPT genetic susceptibility and its clinical variability. The aim is to evaluate the prevalence of these polymorphisms in patients with sporadic PHPT and their impact on clinical course, biochemistry, and histological features. 106 patients underwent clinical and anamnestic evaluations, focusing on major PHPT complications, as well as biochemical analyses of blood and urine.

Impact of 18F-choline PET-CT or PET-MRI on surgical strategy in patients with primary hyperparathyroidism.

Background: Accurate preoperative localization is essential for successful, focused, minimally invasive surgery in primary hyperparathyroidism (PHPT). New imaging techniques have recently been proposed. This study evaluated the impact of 18F-choline positron emission tomography (PET)-computed tomography or 18F-choline PET-magnetic resonance imaging (FCh) in patients with negative or inconclusive results on neck ultrasonography (US) and 99mTc-sestamibi (MIBI) scintigraphy.

Combining Procalcitonin and Calcitonin for the Diagnosis of Medullary Thyroid Cancer: A Two-Step Approach.

Objective: Calcitonin (CT) represents the most important biochemical marker of medullary thyroid cancer (MTC), but has certain limits. Procalcitonin (ProCT) has been recognized as an alternative or additional marker for MTC. The aim of the study is to evaluate prospectively the role of ProCT combined with CT in the identification of MTC.

Germline mutations of GCM2 cause a novel variant of hereditary primary hyperparathyroidism.

Primary hyperparathyroidism (pHPT) occurs as hereditary disease in approximately 10% of cases. GCM2 germline mutations have been recently described as responsible for the development of a novel variant of hereditary pHPT. This study aimed to determine the features of GCM2-related pHPT.

Water and Electrolyte Content in Hypertension in the Skin (WHYSKI) in Primary Aldosteronism.

Background: Primary aldosteronism (PA), the most common curable salt-dependent form of arterial hypertension, features renal K loss and enhanced Na reabsorption. We investigated whether the electrolyte, water, and TonEBP (tonicity-responsive enhancer binding protein)/ (nuclear factor of activated T cells 5) content is altered in the skin of patients with PA and corrected by surgical cure.

Methods: We obtained skin biopsies from 80 subjects: 49 consecutive patients with PA, optimally treated with a mineralocorticoid receptor antagonist; 6 essential hypertensives; and 25 normotensive controls.

Risk and Protective Factors of Postoperative and Persistent Hypoparathyroidism after Total Thyroidectomy in a Series of 1965 Patients.

Background: Postoperative hypoparathyroidism (HypoPTH) is the most common complication following total thyroidectomy. Several risk factors have been identified, but data on postoperative follow-up are scarce.

Methods: The study focused on 1965 patients undergoing surgery for benign and malignant thyroid diseases at a tertiary-level academic center.

Role of Lugol solution before total thyroidectomy for Graves' disease: randomized clinical trial.

Background: Lugol solution is often administered to patients with Graves' disease before surgery. The aim is to reduce thyroid vascularization and surgical morbidity, but its real effectiveness remains controversial. The present study was designed to evaluate the effects of preoperative Lugol solution on thyroid vascularization and surgical morbidity in patients with Graves' disease undergoing total thyroidectomy.

Genetic and Molecular Biomarkers in Aggressive Pheochromocytomas and Paragangliomas.

Pheochromocytomas and paragangliomas (PPGLs) are rare neoplasms producing catecholamines that occur as hereditary syndromes in 25-40% of cases. To date, PPGLs are no longer classified as benign and malignant tumors since any lesion could theoretically metastasize, even if it occurs only in a minority of cases (approximately 10-30%). Over the last decades, several attempts were made to develop a scoring system able to predict the risk of aggressive behavior at diagnosis, including the risk of metastases and disease recurrence; unfortunately, none of the available scores is able to accurately predict the risk of aggressive behavior, even including clinical, biochemical, and histopathological features.

Water and Electrolyte Content in Salt-Dependent HYpertension in the SKIn (WHYSKI): Effect of Surgical Cure of Primary Aldosteronism.

Unlabelled:  INTRODUCTION: This study will test the hypothesis that primary aldosteronism (PA) involves alterations in Na, K, and water content in the skin that are corrected by adrenalectomy.

Aim And Methods: In skin biopsies, we will measure the content of Na, K, water, by physical-chemical methods and the osmotic-stress-responsive transcription factor Tonicity-responsive Enhancer Binding Protein (TonEBP, NFAT5) mRNA copy number by droplet digital PCR, in sex-balanced cohorts of 18 -75-year-old consecutive consenting patients with unilateral and bilateral PA, primary (essential) hypertension, and normotension. Before surgery, the patients with unilateral PA will receive the mineralocorticoid receptor antagonist (MRA) canrenone at doses that correct hypokalemia and high blood pressure values.

Tumor Grade and Molecular Characteristics Associated with Survival in Sporadic Medullary Thyroid Carcinoma.

The International Medullary Thyroid Carcinoma Grading System (IMTCGS) divides medullary thyroid carcinoma (MTC) into two categories, high- and low-grade tumors, which has a profound impact on patient outcomes. The aim of this study was to explore the association between IMTCGS grading, clinical data, and molecular status in sporadic MTC. A retrospective cohort study was performed on consecutive sporadic MTCs from patients undergoing initial surgery between January 2000 and January 2022 at the Padua Endocrine Surgery Unit.

Total adrenalectomy versus subtotal adrenalectomy for bilateral pheochromocytoma: meta-analysis.

Background: Bilateral pheochromocytomas are rare and often heritable. Total adrenalectomy leads to a definitive oncological cure, with subsequent definitive hypocortisolism. Subtotal adrenalectomy is a possible alternative.

Long-Term Outcomes after Surgery for Pheochromocytoma and Sympathetic Paraganglioma.

Background: The prognosis of pheochromocytoma and sympathetic paraganglioma (PHEO/sPGL) is difficult to predict at the time of diagnosis and long-term follow-up data are scarce, especially for apparently benign and sporadic variants. The aim of the study was to analyze the long-term outcomes in PHEO/sPGL patients.

Methods: A monocentric series of 170 patients who underwent surgery for PHEO/sPGL was analyzed.

CT Texture Analysis of Adrenal Pheochromocytomas: A Pilot Study.

Radiomics is a promising research field that combines big data analysis (from tissue texture analysis) with clinical questions. We studied the application of CT texture analysis in adrenal pheochromocytomas (PCCs) to define the correlation between the extracted features and the secretory pattern, the histopathological data, and the natural history of the disease. A total of 17 patients affected by surgically removed PCCs were retrospectively enrolled.

Prophylactic and Early Thyroidectomy in Germline Mutation Carriers in Pediatric and Adult Population: Long-Term Outcomes of a Series of 63 Patients.

Prophylactic and early thyroidectomy in germline mutation carriers allows the removal of the thyroid before medullary thyroid carcinoma (MTC) develops, or while it is still confined to the gland. This study was aimed to assess the clinicopathological features in carriers according to the age at surgery and the long-term outcomes after prophylactic and early thyroidectomy. A retrospective analysis of 63 operated asymptomatic carriers diagnosed after familial genetic screening was performed.

The role of procalcitonin in the follow-up of medullary thyroid cancer.

Objective: Calcitonin (Ct) represents the most important biochemical marker of medullary thyroid cancer (MTC), but has certain limits. We analyzed the performance of procalcitonin (ProCt) in follow-up MTC patients.

Methods: In this monocentric and retrospective study, we consecutively obtained ProCt and Ct values from all MTC patients that we visited during the period from April 2021 to May 2022.

The Overall Survival and Progression-Free Survival in Patients with Advanced Adrenocortical Cancer Is Increased after the Multidisciplinary Team Evaluation.

We aimed to evaluate the role of adrenal multidisciplinary team evaluation (MTE) in affecting the overall survival (OS) and progression-free survival (PFS) in patients with adrenocortical carcinoma (ACC). We included in a retrospective monocentric study 47 patients with ACC. We divided our cohort into group 1 (without adrenal-MTE discussion, ACC diagnosis from 2004 to 2012, n = 14) and group 2 (diagnosis and beginning of treatments after 2013, all discussed in the adrenal MTE, n = 33).

Aldosterone and cortisol synthesis regulation by angiotensin-(1-7) and angiotensin-converting enzyme 2 in the human adrenal cortex.

Objective: The branch of the renin--angiotensin system constituting angiotensin-(1-7) [Ang-(1-7)], the Ang II type 2 receptor, the Mas receptors and the Ang-(1-7)-forming enzyme ACE-2, by counteracting the Ang II type 1 receptor (AT1R)-mediated effects, are held to be cardiovascular protective in several conditions. However, whether Ang-(1-7) and ACE-2 are detectable in human adrenocortical tissues and whether they affect aldosterone and cortisol biosynthesis was unknown.

Methods: We measured angiotensin peptides with liquid chromatography tandem-mass spectrometry and ACE-2 mRNA with digital droplet (dd)PCR in human aldosterone-producing adenoma (APA) and APA-adjacent tissue obtained from patients with primary aldosteronism.

Resolution of drug-resistant hypertension by adrenal vein sampling-guided adrenalectomy: a proof-of-concept study.

Drug-resistant hypertension (RH) is a very high-risk condition involving many hypertensive patients, in whom primary aldosteronism (PA) is commonly overlooked. Hence, we aimed at determining if (1) adrenal vein sampling (AVS) can identify PA in RH patients, who are challenging because of receiving multiple interfering drugs; (2) AVS-guided adrenalectomy can resolve high blood pressure (BP) resistance to treatment in these patients. Based on a pilot study we selected from 1016 consecutive patients referred to our Centre for 'difficult-to-treat' hypertension those with RH, for an observational prospective cohort study.

PTH: Redefining Reference Ranges in a Healthy Population-The Role of Interfering Factors and the Type of Laboratory Assay.

Unlabelled: . Parathyroid hormone (PTH) is a linear peptide constituted by 84 amino acids and active in its 1-84 form, but a wide range of PTH forms produced by its post-transcriptional modifications are present in blood. Many assays with different specificities are commercially available.

Clinical Features, Treatment, and Surveillance of Hyperparathyroidism-Jaw Tumor Syndrome: An Up-to-Date and Review of the Literature.

Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is an autosomal dominant disorder characterized by parathyroid tumors in association with fibro-osseous jaw tumors and uterine and renal lesions. HPT-JT syndrome is caused by germline mutations of the cell division cycle 73 () gene that encodes the parafibromin, a 531-amino acid protein with antiproliferative activity. Primary hyperparathyroidism is the main finding of HPT-JT syndrome, usually caused by a single-gland parathyroid involvement (80% of cases), at variance with other variants of hereditary hyperparathyroidism, in which a multiglandular involvement is more frequent.

Long-Term Outcomes of Parathyroidectomy in Hyperparathyroidism-Jaw Tumor Syndrome: Analysis of Five Families with CDC73 Mutations.

Background: Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare disease caused by CDC73 germline mutations, with familial primary hyperparathyroidism (pHPT), ossifying jaw tumors, genito-urinary neoplasms. The present study was aimed at determining the long-term postoperative outcome of parathyroidectomy in HPT-JT.

Methods: A retrospective analysis of a single-center series of 20 patients from five unrelated HPT-JT families undergoing parathyroid surgery was performed.