Subacute thyroiditis (SAT) is a thyroid inflammatory disease whose pathogenesis is still not completely defined. Previous viral infection is considered to be a triggering factor in genetically predisposed individuals. In about 70% of patients, susceptibility to SAT is associated with the HLA-B*35 allele. The correlation between SAT and other human leukocyte antigens (HLA) has not yet been unequivocally demonstrated and the genetic background is still unknown in about 30% of patients. The purpose of our study was to perform HLA genotyping using a next-generation sequencing method, to find out whether alleles other than HLA-B*35 are correlated with SAT morbidity. HLA-A, -B, -C, -DQB1, -DRB1 were genotyped using a next-generation sequencing method in 1083 subjects, including 60 SAT patients and 1023 healthy controls. Among 60 patients diagnosed with SAT, 81.7% of subjects were identified as having allele HLA-B*35, 23.3% had HLA-B*18:01, 28.3% had HLA-DRB1*01 and 75.5% had HLA-C*04:01. These alleles occurred in the control group at frequencies of 10.2%, 7.2%, 12.9% and 12.5%, respectively. The differences were statistically significant, with p < 0.05. In addition to its previously described relationship with HLA-B*35, genetic susceptibility to SAT was associated with the presence of HLA-B*18:01, DRB1*01 and C*04:01. The alleles HLA-B*18:01 and DRB1*01 were independent SAT risk factors. The assessment of these four alleles allows the confirmation of genetic predisposition in almost all patients with SAT.

The diagnosis of subacute thyroiditis (SAT) is based mainly on the presence of painful thyroid goitre and a significant increase in erythrocyte sedimentation rate (ESR). Proceeding according to these diagnostic criteria may lead to an incorrect diagnosis and treatment. Extremely dangerous is the situation when the diagnosis of SAT is erroneously made based on criteria other than ultrasound (US) image and fine needle aspiration biopsy (FNAB), which leads to delayed diagnosis of malignant tumour with poor prognosis. Five patients with typical SAT symptoms are presented. In all of them, anaplastic thyroid cancer or metastatic thyroid tumours were finally diagnosed as the cause of the initial symptoms resembling SAT. Most of the patients were initially misdiagnosed and the proper diagnosis of malignancy was delayed. The authors have proposed the new diagnostic criteria for SAT, and strongly suggest that thyroid gland US should be included in the main criteria of SAT diagnosis, together with FNAB result excluding the presence of malignant tumour.

Cushing’s syndrome (CS) is a rare disease caused by a chronic excess of cortisol. Hypercortisolaemia may affect reproductive system leading to infertility in women. However, some of the patients remain fertile, although pregnancy is uncommon. In our report, we describe the case of a 31-years old woman suffering from hypertension, oligomenorrhea, easy bruising, muscle weakness and elevated levels of cortisol. During hospitalization, high level of serum cortisol with stiff diurnal rhythm and undetectable plasma ACTH concentration were found. The overnight 1 mg dexamethasone (DEX) suppression test and the test with 8 mg of DEX were performed – plasma cortisol levels after both doses of DEX were over expected values. Thus, the diagnosis of ACTH independent hypercortisolaemia was established. After three weeks of ketoconazole treatment, high level of β-HCG was found corresponding to the third week of pregnancy. The ketoconazole was shift to metyrapone but afterwards ketoconazole was added again. The treatment was well tolerated and pregnancy proceeded without complications. US scan revealed a 2 cm adenoma of the left adrenal gland, confirmed by CT. An adrenalectomy was performed. Concluding, we think that medical treatment of CS in pregnant women is well tolerated and safe both for the mother and fetus.

Clinical symptoms of subacute thyroiditis (SAT) may be misleading and the proper diagnosis is significantly delayed, and many unnecessary therapeutic methods are used, including application of antibiotics. The purpose of the study is to analyze the reasons and frequency of delayed SAT diagnosis and unnecessary antibiotic treatment and to propose a simple algorithm to facilitate the diagnosis and prevent antibiotic abuse. Sixty-four SAT patients were divided into groups depending on the period of time from the first symptoms of SAT to diagnosis and on the unnecessary use of antibiotics. Data from medical history and laboratory test results were analyzed for individual groups to determine the reasons for delayed diagnosis and incorrect treatment. In 73% of patients, the diagnosis was delayed from over two weeks up to six months. Among 62 patients who provided data on antibiotic use, 29 (46.77%) were treated with one or more antibiotics due to SAT symptoms. Fever, preceding infection, increased C-reactive protein (CRP), and WBC were characteristic for the antibiotic treated group. Fever, preceding infection, increased CRP and WBC are typical for both SAT and infection and are the main symptoms leading to misdiagnosis and unnecessary antibiotic treatment in SAT. Thus, in all patients with neck pain or other SAT-like symptoms, thorough clinical examination of the neck is mandatory. When firm and/or tender thyroid nodule/goitre is present and erythrocyte sedimentation rate /CRP is increased, patient should be promptly referred to an endocrinologist, and antibiotics are not recommended.

Background Hypertension is one of the commonest diseases worldwide. Its prevalence is estimated to approximately 25% of the population. In addition, hypertension is an important risk factor for increased cardiovascular events. In most cases it is of idiopathic origin, but may also be due to another disease, e.g. endocrine dysfunction. Primary aldosteronism (PA) is a common cause of resistant hypertension; its proper diagnosis determines further therapy. The aim of this study was to evaluate the prevalence of PA in a group of 350 patients (240 women and 110 men) with hypertension. Material and methods All patients underwent hormonal tests including assessment of the levels of: ACTH, cortisol (baseline and in dexamethasone suppression test), DHEA-S, chromogranin A, VMA urine excretion, aldosterone and active renin. Afterwards, an intravenous load test with 0.9% neutral saline solution was performed. Abdominal ultrasound was performed in all patients, and abdominal computed tomography only in patients with abnormal hormonal tests. Other forms of secondary hypertension were previously excluded. Results Primary aldosteronism was diagnosed in 58 patients (16.6%) — 38 women and 20 men. Adrenal adenoma was found in 20 patients (34.5%), and idiopathic hyperaldosteronism in 38 patients (65.5%). Hypokalaemia occurred in 25 patients (43.1%). Moreover, it was found that the aldosterone-renin ratio above 8.25 supports the diagnosis of PA. Conclusion We conclude that the diagnosis of PA should not be limited only to the hypertensive patient with hypokalaemia. PA is an important cause of hypertension, especially among patients with difficulties in normalization of blood pressure with standard pharmacological treatment. Background Hypertension is one of the commonest diseases worldwide. Its prevalence is estimated to approximately 25% of the population. In addition, hypertension is an important risk factor for increased cardiovascular events. In most cases it is of idiopathic origin, but may also be due to another disease, e.g. endocrine dysfunction. Primary aldosteronism (PA) is a common cause of resistant hypertension; its proper diagnosis determines further therapy. The aim of this study was to evaluate the prevalence of PA in a group of 350 patients (240 women and 110 men) with hypertension. Material and methods All patients underwent hormonal tests including assessment of the levels of: ACTH, cortisol (baseline and in dexamethasone suppression test), DHEA-S, chromogranin A, VMA urine excretion, aldosterone and active renin. Afterwards, an intravenous load test with 0.9% neutral saline solution was performed. Abdominal ultrasound was performed in all patients, and abdominal computed tomography only in patients with abnormal hormonal tests. Other forms of secondary hypertension were previously excluded. Results Primary aldosteronism was diagnosed in 58 patients (16.6%) — 38 women and 20 men. Adrenal adenoma was found in 20 patients (34.5%), and idiopathic hyperaldosteronism in 38 patients (65.5%). Hypokalaemia occurred in 25 patients (43.1%). Moreover, it was found that the aldosterone-renin ratio above 8.25 supports the diagnosis of PA. Conclusion We conclude that the diagnosis of PA should not be limited only to the hypertensive patient with hypokalaemia. PA is an important cause of hypertension, especially among patients with difficulties in normalization of blood pressure with standard pharmacological treatment.