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.

Thyroid autoimmunity in different phenotypes of polycystic ovary syndrome: a single-center experience.

Purpose: Polycystic ovary syndrome (PCOS) has been associated with Hashimoto's thyroiditis (HT) and 4 phenotypes have been described in this syndrome. The aim of this work was to investigate the frequency of anti-thyroid antibodies (TAb) and thyroid function in the 4 phenotypes of PCOS.

Patients: This study included 448 patients with PCOS: 260 (58.

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.

Thyroid Function Rather Than Thyroid Antibodies Affects Pregnancy and Perinatal Outcomes: Results of a Prospective Study.

Context: Thyroid autoantibody positivity has been associated with an increased rate of obstetrical complications.

Objective: We aimed to evaluate the role of thyroid autoantibodies in adverse pregnancy outcomes.

Methods: This prospective study was conducted in the Endocrinology Unit of Pisa Hospital.

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.