Clinical Course of Congenital Hypothyroidism With Gland In Situ and Necessity of L-Thyroxine Therapy After Re-evaluation.

Context: The 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.

Gonadal dysfunction in a man with Noonan syndrome from the variant: case report and review of literature.

Noonan syndrome (NS) is a genetic disorder characterized by multiple congenital defects caused by mutations in the RAS/mitogen-activated protein kinase pathway. Male fertility has been reported to be impaired in NS, but only a few studies have focused on fertility status in NS patients and underlying mechanisms are still incompletely understood. We describe the case of a 35-year-old man who underwent an andrological evaluation due to erectile dysfunction and severe oligospermia.

PFOA, PFHxA and C6O4 differently modulate the expression of CXCL8 in normal thyroid cells and in thyroid cancer cell lines.

Industrial chemical PFAS are persistent pollutants. Long chain PFAS were taken out of production due to their risk for human health, however, new congeners PFAS have been introduced. The in vitro effects of the long-chain PFOA, the short-chain PFHxA and the new-generation C6O4 were evaluated in normal and in thyroid cancer cell lines in terms of cell viability and proliferation, and secretion of a pro-tumorigenic chemokine (CXCL8), both at the mRNA and at the protein level.

Iodine status and supplementation in pregnancy: an overview of the evidence provided by meta-analyses.

Iodine supplementation during pregnancy in areas with mild-moderate deficiency is still a matter of debate. The present study aimed at systematically reviewing currently available evidences provided by meta-analyses with the aim to further clarify controversial aspects regarding the need of iodine supplementation in pregnancy as well as to provide guidance on clinical decision-making, even in areas with mild-moderate deficiency. Medline, Embase and Cochrane search from 1969 to 2022 were performed.

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.

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.

Characterization of a novel mutation V136L in bone morphogenetic protein 15 identified in a woman affected by POI.

Background: Premature ovarian insufficiency (POI) is an ovarian defect characterized by primary or secondary amenorrhea, hypergonadotropism and hypoestrogenism which occurs before the age of 40 years with a major genetic component. In this study we performed clinical evaluation and genetic analysis of a group of 18 patients with POI. The study involved 18 consecutive women with POI.

Familial Non-Medullary Thyroid Carcinoma in Pediatric Age: Our Surgical Experience.

Background: The purpose of the article was to evaluate the existence of significant clinical, pathological and prognostic differences between familial and sporadic form of pediatric non-medullary thyroid carcinoma, in order to tailor the therapeutic strategy to be adopted for patients with family history.

Methods: We analyzed the records of 76 pediatric patients that underwent surgery for differentiated thyroid cancer from 2014 to 2019 at the Surgical Pathology Department of the University of Pisa, Italy. Among these, 20 (26,3%) had positive family history (familial non-medullary thyroid carcinoma-FNMTC group) while 56 (73.

Remission of Primary Hyperparathyroidism Following Fine-Needle Aspiration Biopsy: A Case Report and Review of the Literature.

Background: Spontaneous or fine-needle aspiration biopsy (FNAB)-induced remission of primary hyperparathyroidism (PHPT) is an extremely rare and generally transient phenomenon.

Methods: A 40-year-old woman with a history of recurrent kidney stones was diagnosed with PHPT (serum calcium, 14.2 mg/dL; parathyroid hormone [PTH], 380 pg/mL).

Obesity and Monitoring Iodine Nutritional Status in Schoolchildren: is Body Mass Index a Factor to Consider?

The frequency of overweight (OW) and obese (OB) children has increased worldwide, particularly in economically developed countries. No studies have been conducted to verify whether the increasing frequency of OW and obesity in schoolchildren may affect the evaluation of iodine nutritional status in populations. The aim of this study was to verify whether urinary iodine concentration (UIC), thyroid volume (TV), and thyroid hypoechoic pattern may be affected by body mass index (BMI) in schoolchildren.

Clinical features, risk of mass enlargement, and development of endocrine hyperfunction in patients with adrenal incidentalomas: a long-term follow-up study.

Purpose: To evaluate the risk of mass enlargement and endocrine function modification in patients with adrenal incidentaloma (AI).

Methods: In this retrospective study, we examined clinical and hormonal characteristics of 310 patients with AI (200 females and 110 males; age: 58.3 ± 12.

Clinical and Metabolic Effects of Alpha-Lipoic Acid Associated with Two Different Doses of Myo-Inositol in Women with Polycystic Ovary Syndrome.

The aim of this retrospective study was to evaluate the effects of a treatment with -lipoic acid (ALA) associated with two different doses of myo-inositol (MI) on clinical and metabolic features of women with polycystic ovary syndrome (PCOS). Eighty-eight women received the treatment, and 71 among them had complete clinical charts and were considered eligible for this study. All women were treated with 800 mg of ALA per day: 43 patients received 2000 mg of MI and 28 received 1000 mg of MI per day.

Tako-tsubo Syndrome as First Manifestation in a Case of Pheochromocytoma Developed From a Non-functional Adrenal Incidentaloma.

Pheochromocytoma is a catecholamine secreting tumor that, in extremely rare cases, may develop over time from a non-functional adrenal adenoma. Catecholamine excess can lead to a kind of cardiomyopathy similar to that seen in tako-tsubo syndrome (TTS). A 69 years old female with a history of type 2 diabetes, hypertension, and a non-functional right adrenal adenoma diagnosed 3 years earlier was referred to our center for further investigations.

Graves' Disease and the Post-partum Period: An Intriguing Relationship.

The post-partum period is an immunologically peculiar period in a woman's life. Indeed, most of the pregnancy-related immune changes gradually revert in the 12 months following delivery. Although the post-partum period has long been identified as a period of aggravation of autoimmune thyroid diseases, most of the currently available studies took into account the relationship between post-partum and autoimmune thyroiditis.

A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?

mutations have been usually associated with a non-progressive neurological disease. Recent reports revealed a vast variability regarding its clinical expressivity. Aim of this work was widening the Benign Hereditary Chorea neurological, cognitive and behavioral phenotype through the description of a child and her family pedigree.

A new case of Marine-Lenhart syndrome with a papillary thyroid carcinoma.

We report the case of a patient with the coexistence of Graves' disease and autonomously functioning thyroid nodules. Because of the suspicious ultrasound pattern, he was submitted to fine-needle aspiration of the hot nodule and cytology revealed a papillary thyroid cancer. After total thyroidectomy a papillary thyroid cancer was found.

Patients with Indeterminate Thyroid Nodules at Cytology and Cancer at Histology Have a More Favorable Outcome Compared with Patients with Suspicious or Malignant Cytology.

Background: The outcomes of patients with thyroid cancer proven by histology in patients in whom cytology was Thy 3 (indeterminate; Thy 3 patients in this study) based on the Italian consensus classification compared with those in whom cytology was Thy 4 (suspicious for malignancy) or Thy 5 (indicative for malignancy) (Thy 4-5 patients here) remains unclear.

Objective: To analyze the outcome of 371 Thy 3 patients versus 269 Thy 4-5 patients homogeneously treated with total thyroidectomy and I activity.

Results: T1 stage was observed in 46.

Post-partum and non-post-partum relapsing Graves' hyperthyroidism display different response to anti-thyroid drugs.

Design: Graves' disease (GD) patients in remission after a full course of methimazole (MMI) therapy are at risk for a relapse of hyperthyroidism during the post-partum (PP) period, but whether this relapse may display any peculiarity is still unknown. Aim of this study was to compare GD patients undergoing a relapse of hyperthyroidism either in the PP period or not.

Methods: We retrospectively evaluated forty-three GD female patients in their childbearing age who experienced a relapse of hyperthyroidism.

Low Elasticity of Thyroid Nodules on Ultrasound Elastography Is Correlated with Malignancy, Degree of Fibrosis, and High Expression of Galectin-3 and Fibronectin-1.

Background: Thyroid ultrasound (US) elastography provides an estimation of tissue stiffness and is helpful to differentiate malignant from benign lesions. Tissue proprieties and molecules causing stiffness are not established. The aim of the study was to correlate US elastography findings with tissue properties in thyroid nodules.