Case report: Obstructive azoospermia as the first presentation of Von Hippel-Lindau disease.

We report the case of a 38-year-old man whose diagnostic workup for primary infertility led to the discovery of obstructive azoospermia due to bilateral papillary cystadenoma of the epididymis (PCE). Given the rarity of this finding and because PCE could be a manifestation of Von Hippel-Lindau disease (VHL), although the patient had no family or personal history of VHL, the gene was tested, and a known pathogenetic variant (c.464-1G>A; p.

Evolution of the Diagnosis and Treatment of Primary Hyperparathyroidism.

This study aims to present the evolution of our center's approach to treating primary hyperparathyroidism (PHPT) from diagnosis to intraoperative interventions. We have also evaluated the intraoperative localization benefits of indocyanine green fluorescence angiography. This retrospective single-center study involved 296 patients who underwent parathyroidectomy for PHPT between January 2010 and December 2022.

Prognostic Value of Thyroid Hormone Ratio in Patients With Advanced Metastatic Renal Cell Carcinoma: Results From the Threefour Study (Meet-URO 14).

Background: Thyroid hormone impairment, represented as an alteration in levels of thyroid hormones and a lower fT3/fT4 ratio, has been correlated with a worse prognosis for both cancer and non-cancer patients. The role of baseline thyroid function in patients with metastatic renal cell carcinoma (mRCC) however, has not been studied yet.

Materials And Methods: We recorded clinical data, baseline biochemical results, and oncological outcomes from 10 Oncology Units in Italy.

Programmed cell death 4 (PDCD4) as a novel prognostic marker for papillary thyroid carcinoma.

Background: The primary goal of papillary thyroid cancer (PTC) management was to stratify patients at pre- and post-surgical level to identify the small proportion of cases with potentially aggressive disease.

Purpose: The aim of our study is to evaluate the possible role of programmed cell death 4 (PDCD4) and BRAF status as prognostic markers in PTC.

Patients And Methods: We investigate programmed cell death 4 (PDCD4) immunohistochemical expression in 125 consecutive PTCs with median follow-up of 75.

The Effects of Iodine Supplementation in Pregnancy on Iodine Status, Thyroglobulin Levels and Thyroid Function Parameters: Results from a Randomized Controlled Clinical Trial in a Mild-to-Moderate Iodine Deficiency Area.

Background: Iodine supplementation during pregnancy in areas with mild-to-moderate iodine deficiency is still debated.

Methods: A single-center, randomized, single-blind and placebo-controlled (3:2) trial was conducted. We enrolled 90 women before 12 weeks of gestation.

Differentiated Thyroid Carcinoma in Pediatric Age: Genetic and Clinical Scenario.

Follicular-derived differentiated thyroid carcinoma (DTC) is the most common endocrine and epithelial malignancy in children. The differences in the clinical and pathological features of pediatric vs. adult DTC could relate to a different genetic profile.

Unique Case of a Large Indolent Medullary Thyroid Carcinoma: Time to Reconsider the Medullary Thyroid Adenoma Entity?

Background: Medullary thyroid carcinoma (MTC) is a rare neuroendocrine cancer originating from parafollicular, calcitonin (Ctn)-producing C-cells. Prognosis correlates with primary tumor stage and Ctn levels.

Patient: We describe a case of MTC involving a mass 7 cm in its largest dimension, associated with high Ctn concentrations (> 5,000 pg/mL), but normal carcinoembryonic antigen levels, and with no lymph nodes or distant metastases, in complete remission after thyroid surgery.

Prognostic significance of TERT promoter and BRAF mutations in TIR-4 and TIR-5 thyroid cytology.

Objective: Follicular-derived thyroid cancers generally have a good prognosis, but in a minority of cases, they have an aggressive behavior and develop distant metastases, with an increase in the associated mortality. None of the prognostic markers currently available prior to surgery can identify such cases.

Methods: TERT promoter and BRAF gene mutations were examined in a series of 436 consecutive TIR-4 and TIR-5 nodes referred for surgery.

Novel Prognostic Factors Associated with Cell Cycle Control in Sporadic Medullary Thyroid Cancer Patients.

Background: Medullary thyroid cancer (MTC) is a rare neuroendocrine-derived malignancy. It is represented by sporadic and familiar forms, and both can have oncogene mutations. Numerous markers can be used to define MTC; however, none is generally approved for predicting the outcome of sporadic MTC.

A Novel Thyroid Hormone Receptor Beta Mutation (G357R) in a Family with Resistance to Thyroid Hormone Beta: Extending the Borders of the "Hot" Region in the THRB Gene.

Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by high serum levels of thyroid hormone and unsuppressed serum thyrotropin concentrations. RTHβ is caused by mutations in the thyroid hormone receptor beta (THRB) gene, which are mostly clustered in three "hot" regions along the gene. Here, a report is given on a family with RTHβ caused by a novel mutation in the THRB gene (c.

Amiodarone-Induced Thyrotoxicosis: Differential Diagnosis Using 99mTc-SestaMIBI and Target-to-Background Ratio (TBR).

Purpose Of The Report: Distinguishing between amiodarone-induced thyrotoxicosis (AIT) caused by excessive hormone synthesis (AIT-1) or by a destructive process (AIT-2) has important therapeutic implications, but is still difficult and debated. Tc-sestaMIBI thyroid scintigraphy (99m-STS) has been proposed as a tool for classifying the two forms.

Material And Methods: 30 AIT patients (11 females and 19 males) who underwent 99m-STS were retrospectively assessed for the present study.

Metyrapone treatment in Cushing's syndrome: a real-life study.

Introduction And Aim: Medical treatment is increasingly used in patients with Cushing's syndrome (CS). Metyrapone (MET) is an inhibitor of 11β-hydroxylase: retrospective studies reported a decrease of cortisol secretion in 50% of cases. We evaluated the effectiveness of MET in an observational study, considering the normalization of urinary-free cortisol (UFC) and late-night salivary cortisol (LNSC) levels.

Efficacy of educational intervention to improve awareness of the importance of iodine, use of iodized salt, and dietary iodine intake in northeastern Italian schoolchildren.

Objective: An educational program was conducted among school-aged children to improve their knowledge about iodine prophylaxis, their iodine status, and their dietary habits.

Methods: At the baseline (T0) and after 6 mo (T1), participants (970 at T0 and 949 at T1) answered questionnaires testing their knowledge about iodine prophylaxis and their eating habits. Urine samples were collected from a randomly selected subgroup of participants (313 at T0 and 312 at T1).

EF24 (a Curcumin Analog) and ZSTK474 Emphasize the Effect of Cabozantinib in Medullary Thyroid Cancer.

XL184 is a small-molecule kinase inhibitor recently included in first-line systemic therapy for patients with advanced, progressive medullary thyroid cancer (MTC). EF24 is a curcumin analog with a high bioavailability, and ZSTK474 is an inhibitor of the phosphatidylinositol 3-kinase signaling pathway. We investigated the effect of these compounds, alone and in combination, in two rearranged during transfection (RET)-mutated TT and MZ-CRC-1 MTC cell lines and in six mostly RET wild-type human MTC primary cultures.

The Hobnail Variant of Papillary Thyroid Carcinoma: Clinical/Molecular Characteristics of a Large Monocentric Series and Comparison with Conventional Histotypes.

Background: The hobnail variant of papillary thyroid carcinoma (HPTC) has an aggressive behavior. The aims of this prospective study were to define the clinical/molecular characteristics of HPTC, and to compare them to those of conventional papillary thyroid carcinoma (PTC).

Methods: From 2010 to 2016, 25 cases of HPTC, characterized clinically and molecularly (BRAF, RAS, TERT promoter, and TP53 mutations), were compared to a series of 165 consecutive cases of PTC.

Frequency and Significance of Promoter, and Mutations in Cytologically Indeterminate Thyroid Nodules: A Monocentric Case Series at a Tertiary-Level Endocrinology Unit.

Purpose: The management of thyroid nodules of indeterminate cytology is controversial. Our study aimed to establish the frequency and significance of promoter, and gene mutations in thyroid nodes of indeterminate cytology and to assess their potential usefulness in clinical practice.

Methods: -,-, promoter and gene mutations were examined in a series of 199 consecutive nodes of indeterminate cytology referred for surgical excision.

MiR-375 and YAP1 expression profiling in medullary thyroid carcinoma and their correlation with clinical-pathological features and outcome.

Medullary thyroid cancer (MTC) is a tumor marked by an indolent growth for which few prognostic factors and therapeutic strategies are actually available. Different studies have recently appraised well-differentiated thyroid cancers are characterized by a dysregulation in different microRNA sets; however, only few of them investigated the role of miRNA expression in MTCs. In this study, we have assessed the miR-375 expression in a series of 130 MTCs (104 are sporadic and 26 familial) with a median follow-up of 39 months (range 1-138) and then we have correlated our results with the clinical-pathological features and the patients' outcome.

Prognostic Impact of miR-224 and RAS Mutations in Medullary Thyroid Carcinoma.

Little is known about the function of microRNA-224 (miR-224) in medullary thyroid cancer (MTC). This study investigated the role of miR-224 expression in MTC and correlated it with mutation status in sporadic MTCs. A consecutive series of 134 MTCs were considered.

Retinal Photoreceptor Functions Are Compromised in Patients With Resistance to Thyroid Hormone Syndrome (RTHβ).

Context: In animal models, disruption of thyroid hormone (TH) receptor-β (TRβ) reduces the long/medium wavelength (L/M) and increases the short-wavelength (S) cones. Retinal photoreceptor (RP) functions are unknown in patients with resistance to TH syndrome (RTHβ) with dominant-negative TRβ mutations.

Objective: To investigate RP functions in RTHβ.

Deregulated expression of VHL mRNA variants in papillary thyroid cancer.

Recent findings demonstrated that a subset of papillary thyroid cancers (PTCs) is characterized by reduced expression of the von Hippel-Lindau (VHL) tumor suppressor gene, and that lowest levels associated with more aggressive PTCs. In the present study, the levels of the two VHL mRNA splicing variants, VHL-213 (V1) and VHL-172 (V2), were measured in a series of 96 PTC and corresponding normal matched tissues by means of quantitative RT-PCR. Variations in the mRNA levels were correlated with patients' clinicopathological parameters and disease-free interval (DFI).

Calcitonin measurement and immunoassay interference: a case report and literature review.

Calcitonin (CT) is currently the most sensitive serological marker of C-cell disease [medullary thyroid carcinoma (MTC) and C-cell hyperplasia]. Starting with a report on a case that occurred at our institution, this review focuses on trying to explain the reasons behind the poor specificity and sensitivity of the various CT immunoassays. A 15-year-old patient was referred to our institution in May 2014 for moderately elevated CT levels.

Overexpression of L-Type Amino Acid Transporter 1 (LAT1) and 2 (LAT2): Novel Markers of Neuroendocrine Tumors.

Background: 6-18F-fluoro-L-3,4-dihydroxyphenylalanine (18F-FDOPA) PET is a useful tool in the clinical management of pheochromocytoma (PHEO) and medullary thyroid carcinoma (MTC). 18F-FDOPA is a large neutral amino acid biochemically resembling endogenous L-DOPA and taken up by the L-type amino acid transporters (LAT1 and LAT2). This study was conducted to examine the expression of the LAT system in PHEO and MTC.

BRAF analysis before surgery for papillary thyroid carcinoma: correlation with clinicopathological features and prognosis in a single-institution prospective experience.

Background: Risk stratification in patients with papillary thyroid carcinoma (PTC) currently relies on postoperative parameters. Testing for BRAF mutations preoperatively may serve as a novel tool for identifying PTC patients at risk of persistence/recurrence after surgery.

Methods: The study involved 185 consecutive patients with a histological diagnosis of PTC and BRAF analysis performed on thyroid fine-needle aspiration biopsy (FNAB).