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Impaired thyroid function is observed in 15% of all pregnancies and thus represents a relevant clinical issue. The key recommendations of currents as well as a selection of recently published literature are presented in this review. more...

Diseases of the thyroid gland are frequent incidental findings during ultrasound examination of the neck. They affect nearly one third of the normal population. Treatment is not always indicated; however, laboratory diagnostic measures must be initiated to specify the disease. The primary indications for consulting a thyroid specialist are thyroid nodules, goiters, autonomy of the thyroid gland, autoimmune diseases, Graves' disease, and Hashimoto thyroiditis. The aim of this review is to provide an overview of the most important thyroid diseases and their treatment options. more...

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. more...

Thyroid dysfunction is the second most common endocrine disorder, only after diabetes mellitus, affecting females in reproductive age group. Pregnancy is associated with profound repercussions on the thyroid status of a lady. Thyroid dysfunctions such as hypothyroidism, thyrotoxicosis and thyroid nodules may develop during pregnancy leading to abortion, placental abruptions, pre-eclampsia, preterm delivery and reduced intellectual function in the offspring. Thus, maintenance of euthyroid state is of utmost important for maternal and fetal well being during pregnancy as well as after. The Endocrine Society has issued latest guidelines regarding the diagnosis and management of thyroid dysfunction related to pregnancy. All the clinicians should be well aware of the latest recommendations regarding management of thyroid dysfunction in pregnancy and in postpartum phase and practice them accordingly. more...

Langerhans cell histiocytosis (LCH) involving the thyroid is very rare. It can be easily confused with far more common benign goiters or thyroid neoplasms. We report on a 5-month-old female patient presenting with progressive enlargement of an anterior neck mass. This patient underwent left subtotal thyroidectomy following which a diagnosis of isolated LCH involving the thyroid gland was confirmed. A course of chemotherapy was administered, and oral thyroxine replacement was initiated. Eighteen months after this treatment, the patient remained in complete remission. Following a thorough review of the literature, as best we are aware, this patient is the youngest individual suffering LCH who has been reported in the literature. In conclusion, isolated LCH of the thyroid is rare, and its diagnosis can be challenging for a clinician and typically requires appropriate awareness. Local excision is the treatment of choice, and prolonged follow-up is recommended. more...

The incidental discovery of neutropenia during routine blood counting represents a common problem for clinicians. However, there are no reported data of systematic evaluations of adults with incidental neutropenia. As such, this was the aim of the present study. Ninety-seven adults with incidental neutropenia were submitted to a clinical and laboratory approach including medical evaluation, complete blood count (CBC), serial CBC, direct and indirect antiglobulin test, bone marrow smear and biopsy, assessment of folate, vitamin B12 and iron status, serum liver enzymes, serum proteins, serological exams for hepatitis B and C virus, cytomegalovirus, mononucleosis, human immunodeficiency virus and toxoplasmosis, detection of lupus erythematosus cells, antinuclear and anti-DNA antibodies and rheumatoid factor, dosage of free thyroxin and thyrotropin, chest roentgenogram and abdominal echography. Chronic idiopathic neutropenia of adults was identified in 34.0% of the individuals, neutropenia due to exposure to chemical agents was seen in 16.5%, infectious diseases in 9.3%, autoimmune diseases in 9.3%, haematological diseases in 9.3%, thyroid disorders in 8.2%, ethnic neutropenia in 7.2%, drug-related neutropenia in 2.1%, cyclic neutropenia in 2.1% and iron deficiency in 2.1%. Recovery or improvement of the neutrophil count was seen upon treatment or recuperation from infectious, autoimmune, haematological and thyroid diseases and iron supplementation. We conclude that the evaluation of individuals with incidental neutropenia using a structured approach may make the identification of clinically silent diseases possible, and provide an opportunity for early treatment, avoiding complications of the diseases and consequences of neutropenia. more...

The thyroid gland can be affected in the course of several polyendocrinopathy syndromes either by impairment of physiological function or thyroid carcinoma. The various syndromes -- polyglandular autoimmune syndrome, autoimmune hypophysitis, multiple pituitary hormone deficiency, multiple endocrine neoplasia, and Carney complex -- are discussed. Therapy of thyroid dysfunction is identical whether it is part of a specific syndrome or not. Genetic testing for mutations, however, has had an enormous impact on screening procedures and therapeutic consequences. more...

Fetal and maternal thyroid function are working independently under physiologic conditions. In case of maternal autoimmune hyperthyroidism during pregnancy there is an up to 12% chance for the fetus to develop thyroid dysfunction, mediated by the transplacental passage of maternal immunoglobulins directed against TSH receptors in the fetal thyroid gland. This may lead to intrauterine growth retardation, craniosynostosis, preterm delivery, perinatal death, etc. Sonography and fetal blood sampling provide important information to detect fetuses at risk and allow intrauterine therapy. Furthermore prenatal diagnosis is important in case of maternal antithyroid drug ingestion possibly leading to fetal hypothyroidism and goitre. The cooperation of specialists for internal and fetal medicine is required for the management of maternal thyroid disease in pregnancy. more...

A large cervical abscess originating from the thyroid gland was treated by means of irrigational catheter drainage performed percutaneously with CT guidance. Culturing resulted in the growth of Streptococcus. Catheter drainage associated with appropriate antibiotic therapy resulted in healing of the abscess after only 3 days with no complications occurred. This case suggests that CT-guided percutaneous catheter drainage may be an effective and safe alternative to surgical therapy in the neck area as well as in other regions of the body. more...

The goiter prevalence in iodine-deficient regions is up to 25%-54%. The most frequent disease in these endemic areas is non-toxic goiter, which is, however, oftentimes connected with autonomously functioning thyroid tissue leading to borderline or overt hyperthyroidism. Other thyroid diseases like cancer, thyroiditis and hypothyroidism play only a minor role in a thyroid clinic, while cases of Graves' disease may be observed more frequently. The most cost-effective tools to evaluate thyroid patients are the hand, ear and mouth of the thyroid clinician. The differential diagnosis of thyroid disorders may be evaluated by a battery of diagnostic tools like in-vitro tests and high performance imaging modalities. Once the diagnosis is established, the appropriate therapeutic procedures (drugs, radioiodine, surgery) have to be chosen. This review should be considered as a guideline for the diagnosis and treatment of thyroid diseases. In addition, special problems concerning elderly patients and pregnant women are discussed, including the differential diagnosis of thyroid diseases. more...

The recognition of the peripheral state of thyroid hormones is often disturbed by factors like pharmacological interferences or non-thyroidal illness, especially borderline hyperthyroidism may often be misjudged. Some serological parameters like the measurement of sex hormone binding globulin, precollagen-peptid I and III, osteocalcin, angiotensin converting enzyme and fibronectin are often elevated in such states and can indicate thyrotoxicosis of certain tissues. Such thyrotoxicosis-like alterations can be shown also in TSH-suppressive therapy with levothyroxine. In contrast to early publications there is obviously only a minor influence of levothyroxine treatment on bone metabolism, where a decrease of bone mass is less probable. Recent developments of sensitive and specific modifications in estimating antibodies against thyroidal peroxydase in recognizing thyroid autoimmune disease and of thyroglobulin in the follow-up of differentiated thyroid cancer are becoming important tools in clinical medicine. more...