Clinical course of congenital hypothyroidism with gland in situ and necessity of L-thyroxine therapy after re-evaluation.

Context: Clinical course and need for long-term L-thyroxine (LT4) therapy of congenital hypothyroidism (CH) with gland in situ (GIS) remain unclear.

Objective: To describe the clinical history of CH with GIS and evaluate the proportion of patients who can suspend therapy during follow-up.

Design And Setting: Retrospective evaluation of patients followed at referral regional center for CH of Pisa.

Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report.

Background: In this study, we used targeted next-generation sequencing (NGS) to investigate the genetic basis of congenital hypothyroidism (CH) in a 19-year-old Tunisian man who presented with severe hypothyroidism and goiter.

Case Presentation: The propositus reported the appearance of goiter when he was 18. Importantly, he did not show signs of mental retardation, and his growth was proportionate.

Screening for drugs potentially interfering with MCT8-mediated T transport in vitro identifies dexamethasone and some commonly used drugs as inhibitors of MCT8 activity.

Background: Monocarboxylate transporter 8 (MCT8) is the first thyroid hormone transporter that has been linked to a human disease. Besides genetic alterations other factors might impair MCT8 activity.

Aim: This study aimed at investigating whether some common drugs having a structural similarity with TH and/or whose treatment is associated with thyroid function test abnormalities, or which behave as antagonists of TH action can inhibit MCT8-mediated T transport.

Gene expression profile in functioning and non-functioning nodules of autonomous multinodular goiter from an area of iodine deficiency: unexpected common characteristics between the two entities.

Purpose: Toxic multinodular goiter is a heterogeneous disease associated with hyperthyroidism frequently detected in areas with deficient iodine intake, and functioning and non-functioning nodules, characterized by increased proliferation but opposite functional activity, may coexist in the same gland. To understand the distinct molecular pathology of each entity present in the same gland, the gene expression profile was evaluated by using the Affymetrix technology.

Methods: Total RNA was extracted from nodular and healthy tissues of two patients and double-strand cDNA was synthesized.

Identification of Two Different Phenotypes of Patients with Amiodarone-Induced Thyrotoxicosis and Positive Thyrotropin Receptor Antibody Tests.

Serum thyrotropin (TSH) receptor antibodies (TRAbs) are occasionally found in patients with amiodarone-induced thyrotoxicosis (AIT), and usually point to a diagnosis of type 1 AIT (AIT1) due to Graves' disease (GD). However, the TRAb role and function in AIT have not been clarified. A retrospective cohort study of 309 AIT patients followed at a single academic center over a 30-year period.