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Patients with PTEN hamartoma tumor syndrome (PHTS) are at increased risk of developing benign and malignant tumors, including thyroid carcinoma. Benign thyroid lesions and single cases of thyroid carcinoma have been reported in children with PHTS. We conducted a retrospective, single-centered study including children and adolescents with a molecularly proven diagnosis of PTEN. Our cohort consists of 16 patients, with a mean age at diagnosis PHTS of 5.7 years. Twelve of 16 cases exhibited thyroid abnormalities (75%). In seven patients, thyroid abnormalities were already present at first ultrasound screening, in five cases they occurred during follow-up. Eight patients underwent thyroidectomy. Histopathology included nodular goiter, follicular adenoma, papillary microcarcinoma in a boy of six and follicular carcinoma in a girl of 13 years. Two patients had autoimmune thyroid disease.Conclusion: Thyroid disease is common in children with PHTS. Physicians caring for patients with early thyroid abnormalities and additional syndromal features should be aware of PHTS as a potentially underlying disorder. Ultrasound screening should be performed immediately after diagnosis of PHTS and repeated yearly or more frequently. Because of possible early cancer development, we recommend early surgical intervention in the form of total thyroidectomy in cases of suspicious ultrasound findings. What is Known: • PHTS patients are at high risk of developing benign and malignant tumors. • Individual cases of thyroid carcinoma in children have been reported. What is New: • Thyroid disease is even more common in children with PHTS (75%) than previously expected. • Frequently thyroid disease is the first organ pathology requiring diagnostic workup and therefore children with PHTS should be examined for thyroid disease right after diagnosis and receive follow-up on a regular basis throughout life. [ABSTRACT FROM AUTHOR]

Adequate thyroid hormone availability is important for an uncomplicated pregnancy and optimal fetal growth and development. Overt thyroid disease is associated with a wide range of adverse obstetric and child development outcomes. An increasing number of studies now indicate that milder forms of thyroid dysfunction are also associated with these adverse pregnancy outcomes. The definitions of both overt and subclinical thyroid dysfunction have changed considerably over the past few years, as new data indicate that the commonly used fixed upper limits of 2.5 mU/l or 3.0 mU/l for thyroid-stimulating hormone (TSH) are too low to define an abnormal thyroid function. Furthermore, some studies now show that the reference ranges are not necessarily the best cut-off for identifying pregnancies at high risk of adverse outcomes. In addition, data suggest that thyroid peroxidase autoantibody positivity and high or low concentrations of human chorionic gonadotropin seem to have a more prominent role in the interpretation of thyroid dysfunction than previously thought. Data on the effects of thyroid disease treatment are lacking, but some studies indicate that clinicians should be aware of the potential for overtreatment with levothyroxine. Here, we put studies from the past decade on reference ranges for TSH, determinants of thyroid dysfunction, risks of adverse outcomes and options for treatment into perspective. In addition, we provide an overview of the current views on thyroid physiology during pregnancy and discuss strategies to identify high-risk individuals who might benefit from levothyroxine treatment. [ABSTRACT FROM AUTHOR]

Agranulocytosis is a rare but serious complication of antithyroid drug therapy, and an up-to-date understanding of this topic is important. Both direct toxicity and immune-mediated responses have been described as possible mechanisms. Some major susceptibility loci have recently been identified, which may lead the diagnosis of agranulocytosis into a genomic era. Onset is acute and patients present with symptoms and signs of infection together with high fever. Clinical suspicion is pivotal and should prompt blood sampling. An absolute neutrophil count of <500/μl in the presence of antithyroid drugs establishes the diagnosis. The causative drug should immediately be stopped to prevent further damage. Treatment includes broad-spectrum antibiotics and granulocyte-colony stimulation factor in selected patients. Later, patients will need definitive treatment for hyperthyroidism, usually with radioactive iodine or surgery. The best way to avoid the mortality associated with antithyroid drug-induced agranulocytosis is patient education. [ABSTRACT FROM AUTHOR]

Introduction: Medication changes involving levothyroxine-either dose titrations or switching formulations-occur frequently in patients with erratic thyroid-stimulating hormone (TSH) levels and persistent hypothyroid symptoms. We investigated whether switching patients from levothyroxine tablets to a gel cap formulation of levothyroxine might reduce dose adjustments and improve tolerability and efficacy outcomes. Objectives: Primary study objectives included quantifying the percentage of patients achieving TSH levels within a pre-specified range, median dose changes experienced, and the percentage of patients with improved hypothyroid symptom control after switching from levothyroxine tablets to levothyroxine gel caps. Methods: A retrospective medical chart review was conducted among 99 randomly selected hypothyroid patients who were switched from a tablet to a gel cap formulation of levothyroxine. Patients were required to have been on levothyroxine monotherapy for ≥1 year prior to the medication switch. Data was collected for 6 months pre-switch and up to 6 months post-switch. Results: Of the 99 patients studied, the majority (51.5%) experienced no documented change in TSH status after the switch ( P < 0.0001). However, there was a decrease in the mean number of dose changes experienced (1.61 ± 0.96 vs. 0.73 ± 0.96; P < 0.0001). Improved hypothyroid symptom control was reported among 61.6% of patients (61 of 99; P < 0.0001). Conclusion: The results of CONTROL Switch support a strategy of switching patients who may experience tolerability or efficacy problems with standard levothyroxine tablets to the levothyroxine gel cap formulation. [ABSTRACT FROM AUTHOR]

The article discusses diseases that are considered as mental constructs or oversimplifications. Topics cited include the diagnosis of acute respiratory distress syndrome, characterization and diagnosis of ventilator-associated pneumonia and ventilator-associated tracheobronchitis and uncertainty on the relative adrenal insufficiency syndrome.

Background: Management of thyroid diseases during pregnancy requires special considerations because maternal thyroid diseases can have adverse effects on both pregnancy and fetus. Universal screening for thyroid diseases in pregnant women is not currently supported by studies with high evidence whereas guidelines have been released for individuals at high risk, although controversies are still in debate. Iodine prophylaxis should be performed systematically to women during pregnancy.Materials and Methods: An electronic search of PubMed/Medline and EMBASE concerning thyroid diseases and pregnancy have been conducted over the past 20 years and summarized.Results: Data regarding prevention and treatment of thyroid diseases during pregnancy are reported from analysis of the literature.Conclusions: As thyroid dysfunction may cause profound impact on mother's and fetus's health, implementation by strict application of clinico-diagnostic flowchart and recommendations is of paramount importance when dealing with thyroid diseases during pregnant state. [ABSTRACT FROM AUTHOR]