Self-diagnosis of hyperparathyroidism during pregnancy resulting in parathyroidectomy and uncomplicated delivery.

Primary hyperparathyroidism is a condition with hypercalcemia and elevated parathyroid hormone (PTH). Typically, treating patients with such disease does not pose a problem for doctors, unless the patient is pregnant. Firstly, pregnancy may mask signs of hypercalcemia. Secondly, treatment should be applied with special care for immature fetus. If undiagnosed and untreated, it is life-threatening for the mother and the baby. The main cause of primary hyperparathyroidism is parathyroid adenoma, which should be removed surgically in second trimester. If the patient is monitored by a multidisciplinary team, the risk of mortality and pregnancy loss is reduced.

Epidemiology, risk factors and prognosis of Interferon alpha induced thyroid disorders. A Prospective Clinical Study.

INTRODUCTION: Hepatitis C virus (HCV) infection is a worldwide problem and hepatitis, which is its natural unfavourable course, is still a challenge for hepatologist. At present, standards of treatment are changing from combined therapy with interferon alpha (IFN-α) and ribavirin to new antiviral drugs. The current classification divides interferon induced thyroid diseases (IITD) into two groups: autoimmune (Hashimoto disease, Graves disease, positive antithyroid autoantibodies in euthyroid patients) and non-autoimmune (destructive thyroiditis, non-autoimmune hypothyroidism). A common complication of cytokine therapy is the induction of antithyroid autoantibodies de novo without thyroid dysfunction. During therapeutic regimens combined with ribavirin, destructive thyroiditis with typical biphasic course is more common than in IFN-α monotherapy. Clinically, overt pathologies often have discrete symptoms, which cause diagnostic and therapeutic dilemmas. AIMS: The aim of this study was to estimate IITD occurrence, to find risk factors for IITD development. MATERIAL AND METHODS: The study group consisted of 66 patients treated for HCV infection. Before and during antiviral therapy, hormonal (TSH, fT4, fT3), immunological (thyroid autoantibodies), ultrasonographic and genetic (HLA-A2) parameters were evaluated. RESULTS: Hormonal disturbances were detected in 24.2% of patients; however, 43.9% of patients had positive thyroid autoantibodies (de novo) without hormonal imbalance. Multivariate analysis revealed the following: female sex, elevated TSH level, occurrence of anti-TPO autoantibodies (TPO-Ab), and increased blood velocity in thyroid arteries are risk factors for IITD development. IN CONCLUSION: Thyroid disorders are common during IFN-α therapy. Previous epidemiological data seem to be underestimated. Important risk factors for IITD development are: female sex, elevated serum TSH concentration (≥2.5 µU/mL), positive TPO-Ab and increased blood velocity in thyroid arteries.

From struma ovarii to Hashimoto disease--an unusual diagnosis of primary hypothyroidism: case report.

CAPSULE: Authors report a case of a 52-year-old woman after struma ovarii with chronic lymphocytic inflammation excision. Finally thyroxin treatment was started and patient's hypothyroidism symptoms diminished. CASE SUMMARY: Struma ovarii is a type of mature teratoma in which thyroid tissue forms the main component. In most cases struma ovarii is composed of normal thyroid tissue while lymphocytic thyroiditis in struma ovarii occurs very rarely. The authors report a case of a 52-year-old woman after ovarian tumor excision. In histopatholgical examination struma ovarii with chronic lymphocytic inflammation was diagnosed. Additional studies revealed a typical ultrasonographic picture of Hashimoto disease in the thyroid gland and an increased concentration of thyroglobulin antibodies. A final diagnosis of Hashimoto disease was confirmed. Initially, thyroid gland function was normal but 11 months after surgery, supplementation therapy with thyroxin was administered. In this case, an early diagnosis of Hashimoto disease resulted from excision of struma ovarii with chronic lymphocytic inflammation. It induced early thyroxin treatment and allowed to reduce hypothyroidism symptoms.

The Current Role of Parathyroid Fine-Needle Biopsy (P-FNAB) with iPTH-Washout Concentration (iPTH-WC) in Primary Hyperparathyroidism: A Single Center Experience and Literature Review.

INTRODUCTION: Primary hyperparathyroidism (PHPT) is a condition characterized by disorders of calcium-phosphate metabolism and bone metabolism caused by pathological overproduction of parathyroid hormone (PTH). The diagnosis of overt PHPT is based on the presence of clinical symptoms and laboratory abnormalities typical of this condition: hypercalcemia, hypercalciuria and elevated iPTH levels. Imaging studies are not used for diagnostic purposes; they are performed to localize the parathyroid glands prior to potential surgical treatment. Technetium 99 m sestamibi scintigraphy (Tc99 m-MIBI) is the gold standard in the assessment of pathologically altered parathyroid glands. Other diagnostic options include cervical ultrasound (US), computed tomography (CT), magnetic resonance imaging (MRI) and positron emission tomography (PET). Parathyroid biopsy (P-FNAB) with iPTH washout concentration (iPTH-WC) assessment is still an underestimated method of preoperative parathyroid gland localization. Few studies have reported the utility of US-guided P-FNAB in preoperative assessment of parathyroid lesions. The aim of the study was to present our experience with 143 P-FNAB with iPTH-WC assessment. MATERIAL AND METHODS: Laboratory results, US findings, P-FNAB complications and comparison with other imaging techniques were described and analyzed. RESULTS: In 133 (93.0) patients, iPTH washout-to-serum ratio exceeded threshold level 0.5 and were classified as positive results. Median iPTH-WC in this group was 16,856 pg/mL, and the iPTH-WC to serum iPTH ratio was 158. There was no correlation between iPTH-WC and serum PTH, serum calcium, parathyroid gland volume and shape index. In the group of 46 operated patients, 44 demonstrated positive iPTH-WC results, which corresponds to a sensitivity of 95.6%. In Tc99-MIBI, radiotracer retention was found in 17 cases (in 24 MIBI performed), which corresponds to a sensitivity of 52.2%. P-FNAB did not cause any major side effects -92.5% of all patients had no or mild adverse events after this procedure. CONCLUSIONS: P-FNAB with iPTH-WC is a reliable method in parathyroid adenoma localization during PHPT. Its sensitivity for diagnosis of PHPT is much higher than that of Tc99-MIBI, and in some situations, P-FNAB with iPTH-WC may even replace that method. Furthermore, cost-effectiveness of iPTH-WC is at least similar to that of Tc99-MIBI. Complications of P-FNAB are mild and we can describe this method as a safe procedure.

Hypereosinophilia in Solid Tumors-Case Report and Clinical Review.

BACKGROUND: Renal cell cancer may cause various paraneoplastic syndromes; however, paraneoplastic hypereosinophilia occurs exceedingly rare. Thus far, only two cases of clear cell renal cell carcinoma (CCRCC) associated with hypereosinophilia have been reported. In this paper, we present a case of paraneoplastic hypereosinophilia associated with renal cell carcinoma and a review of the reported cases of hypereosinophilia in solid tumors. METHODS: The review is based on an electronic literature search performed in the PubMed database in September 2020 with the following key terms: eosinophilia & neoplasm; eosinophilia & cancer; eosinophilia & paraneoplastic syndrome. Papers were included based on screening the titles and/or abstracts. We also included the case of our patient in the analysis. CASE PRESENTATION: A 68-year-old Caucasian female patient with recurrent CCRCC was admitted to our Clinic for exacerbating dyspnea and chest and right upper abdominal pain, accompanied by confusion. Preliminary blood tests showed an increased white blood cell count of 40,770/µl, and an increased eosinophil count of 6,530/µl indicating eosinophilia. Several tests were carried out to rule out the noncancer causes of hypereosinophilia. The temporal appearance of eosinophilia and the recurrence of CCRCC without any other apparent potential causes led to the diagnosis of paraneoplastic hypereosinophilia. Despite treating with high doses of corticosteroids, only a transient decrement in eosinophil count was observed along with further deterioration of the patient's condition. The patient succumbed to the disease 6 months following the tumor surgery and 2 months after the diagnosis of hypereosinophilia and tumor recurrence. CONCLUSION: Our observations are in agreement with the majority of reports showing that the occurrence of eosinophilia following tumor resection may indicate a poor prognosis, tumor recurrence, and rapid disease progression.

The Role of Immunotherapy in the Treatment of Adrenocortical Carcinoma.

Adrenocortical carcinoma (ACC) is a rare epithelial neoplasm, with a high tendency for local invasion and distant metastases, with limited treatment options. Surgical treatment is the method of choice. For decades, the mainstay of pharmacological treatment has been the adrenolytic drug mitotane, in combination with chemotherapy. Immunotherapy is the latest revolution in cancer therapy, however preliminary data with single immune checkpoint inhibitors showed a modest activity in ACC patients. The anti-neoplastic activity of immune checkpoint inhibitors such as anti-cytotoxic-T-lymphocyte-associated-antigen 4 (anti-CTLA-4), anti-programmed death-1 (anti-PD-1), and anti-PD-ligand-1 (PD-L1) antibodies in different solid tumors has aroused interest to explore the potential therapeutic effect in ACC as well. Multiple ongoing clinical trials are currently evaluating the role of immune checkpoint inhibitors in ACC (pembrolizumab, combination pembrolizumab and relacorilant, nivolumab, combination nivolumab and ipilimumab). The primary and acquired resistance to immunotherapy continue to counter treatment efficacy. Therefore, attempts are made to combine therapy: anti-PD-1 antibody and anti-CTLA-4 antibody, anti-PD-1 antibody and antagonist of the glucocorticoid receptor. The inhibitors of immune checkpoints would benefit patients with antitumor immunity activated by radiotherapy. Immunotherapy is well tolerated by patients; the most frequently observed side effects are mild. The most common adverse effects of immunotherapy are skin and gastrointestinal disorders. The most common endocrinopathy during anti-CTLA treatment is pituitary inflammation and thyroid disorders.

Progress on Genetic Basis of Primary Aldosteronism.

Primary aldosteronism (PA) is a heterogeneous group of disorders caused by the autonomous overproduction of aldosterone with simultaneous suppression of plasma renin activity (PRA). It is considered to be the most common endocrine cause of secondary arterial hypertension (HT) and is associated with a high rate of cardiovascular complications. PA is most often caused by a bilateral adrenal hyperplasia (BAH) or aldosterone-producing adenoma (APA); rarer causes of PA include genetic disorders of steroidogenesis (familial hyperaldosteronism (FA) type I, II, III and IV), aldosterone-producing adrenocortical carcinoma, and ectopic aldosterone-producing tumors. Over the last few years, significant progress has been made towards understanding the genetic basis of PA, classifying it as a channelopathy. Recently, a growing body of clinical evidence suggests that mutations in ion channels appear to be the major cause of aldosterone-producing adenomas, and several mutations within the ion channel encoding genes have been identified. Somatic mutations in four genes (KCNJ5, ATP1A1, ATP2B3 and CACNA1D) have been identified in nearly 60% of the sporadic APAs, while germline mutations in KCNJ5 and CACNA1H have been reported in different subtypes of familial hyperaldosteronism. These new insights into the molecular mechanisms underlying PA may be associated with potential implications for diagnosis and therapy.

Coexistence of DiGeorge syndrome with Fahr syndrome, mosaic Turner syndrome and psychiatric symptoms - a case report. / Zaburzenia psychiatryczne u pacjentki z zespolem DiGeorge'a, zespolem Fahra i zespolem Turnera ­ opis przypadku.

We report a case of a 63-year-old patient with psychiatric symptoms diagnosed with coexisting DiGeorge syndrome, Fahr syndrome and Turner syndrome. To our knowledge, this is the first reported case of coexistence of DiGeorge syndrome and mosaic Turner syndrome. Basal ganglia calcification, known as Fahr syndrome, may develop in patients with DiGeorge syndrome as a consequence of calcium-phosphate balance disturbances resulting from primary hypoparathyroidism. A deletion of chromosome 22q11.2 in DiGeorge syndrome, basal ganglia calcification and, according to some research, mosaic Turner syndrome independently can lead to psychiatric disorders. A leading clinical manifestation of the genetic diseases in our patient was long-term, drug-resistant depression with sleeping disorders and organic hallucinosis. Affective disorders led the patient to attempt suicide. The aim of the study was to highlight the importance of perceiving subtle findings which can lead to a diagnose of a genetic disease in a patient with mental health issues. We also discuss the predisposition to psychiatric disorders in DiGeorge syndrome, Turner syndrome and Fahr syndrome.

Low incidence of focal lesions in the thyroid glands of patients with hereditary haemochromatosis - a single-centre study from Poland.

INTRODUCTION: Hereditary haemochromatosis (HH) is a disease characterised by the excessive absorption of iron and its deposition in various organs. Late complications of this disease include cirrhosis, hepatocellular carcinoma, and endocrine disorders. Data from the literature on thyroid disorders in patients with HH are inconsistent and ambiguous, and no research has been done to determine the relationship between excessive accumulation of iron and the thyroid morphology. Therefore, the aim of this study was to characterise thyroid function and ultrasound images in patients with clinically overt hereditary haemochromatosis. MATERIAL AND METHODS: We studied 40 patients who were diagnosed with hereditary haemochromatosis with one of the mutations of the HFE gene and iron deposits in liver in specimen from liver biopsies (graded G2 to G4) or in MRI. To assess thyroid function, ultrasound examinations of the thyroid gland were performed and serum TSH concentrations were measured. RESULTS: We showed in our study that patients with HH have been diagnosed with thyroid focal lesions statistically less frequent than in the control group. We did not reveal any statistically significant difference in TSH concentration between patients with HH and the general population. However, patients with more severe iron deposits in liver showed lower TSH concentration. CONCLUSIONS: Our results indicate lower incidence of focal lesions in thyroid gland in a group of patients with clinically overt hereditary haemochromatosis.

When you hear hooves, you should look for... zebras.

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Medullary thyroid carcinoma of unknown primary origin with synchronous finding of papillary thyroid carcinoma.

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Effects of thyroid hormone imbalance on colorectal cancer carcinogenesis and risk - a systematic review.

Colorectal cancer (CRC) is the second leading cause of cancer-related death. The prevalence of colorectal neoplasm is increasing. Many studies have shown that thyroid dysfunction may be connected with the higher risk of pancreatic and breast cancer, but only a few described the role of thyroid dysfunction and thyroid hormone (TH) replacement in the development and risk of CRC. The aim of this study is to summarise all findings and potentially elucidate the connection between TH imbalance and colorectal cancer. The systematic review was conducted according to PICO and PRISMA guidelines. We searched MEDLINE, ClinicalTrials.gov, www.clinicaltrialsregister.eu, and Cochrane Library databases using the following keywords: "((((thyroid OR hypothyroidism OR hyperthyroidism OR levothyroxine OR hashimoto OR graves OR thyroidectomy)) AND (colon OR colorectal OR CRC)) NOT hashimoto[Author]) NOT graves[Author])". No filters were used. Of total of 3054 articles identified by the search strategy, 11 met PICO criteria and were included into the review. Four of those were on cell lines and seven were human studies. Analysis of the included studies revealed an elevated risk of CRC in patients with hypothyroidism with aORs ranging from 1.16 (95% CI: 1.08-1.24, p < 0.001) to 1.69 (95% CI: 1.21-2.36, p = 0.002). Moreover, TH replacement therapy has a protective effect for CRC risk with aOR ranging from 0.60 (95% CI: 0.44-0.81, p = 0.001) to 0.92 (95% CI: 0.86-0.98, p = 0.009). THs seem to play a role in colorectal carcinogenesis. Further studies are warranted to define the exact role of thyroid hormone imbalance in prevention and treatment of CRC.

Adrenal hemorrhage: A single center experience and literature review.

BACKGROUND: Adrenal hemorrhage (AH) is a rare condition that can lead to acute adrenal insufficiency and may be fatal. The risk factors of AH include focal adrenal lesion, abdominal trauma and anticoagulation therapy. The clinical manifestation of AH varies widely; the symptoms may be related to adrenal insufficiency or may reflect multiple organ failure. However, in many cases, the course of AH is asymptomatic. OBJECTIVES: The study is a retrospective analysis of 23 cases of AH, whose aim is to discuss the etiology and the management of selected patients, as well as a literature review. MATERIAL AND METHODS: The paper presents a retrospective analysis of 23 patients with AH confirmed by radiological and/or pathological examination. Epidemiological data, the results of laboratory tests, and radiological and pathological examinations were included in the analysis. RESULTS: The risk factors of AH were not established in 13 patients, 5 patients had experienced a trauma prior to AH diagnosis, 1 patient was diagnosed with sepsis, 2 patients had concomitant neoplastic disease, and in 2 patients, 2 risk factors were present. Among patients who required emergency admission, 5 patients were hospitalized due to acute abdominal pain, 1 patient due to sepsis and 1 patient due to symptoms of active endocrinopathy. In the remaining patients, diagnostic procedures were prompted by the detection of adrenal incidentaloma (AI). A total of 40% of patients underwent surgical treatment due to the magnitude of AH or clinical and laboratory evidence of overt endocrinopathy. In the remaining patients, conservative treatment and further observation was recommended. In 34.8% of these patients, follow-up examinations revealed a gradual regression. CONCLUSIONS: It seems that there is a need to distinguish patients with AH who do not require surgical intervention. Follow-up radiological examination is necessary to reassess the lesion. The patients in whom shrinkage of the tumor can be observed are likely not to require surgical treatment.

[Side effects during interferon-alpha therapy of hepatitis C with special consideration of thyroid dysfunction]. / Powiklania leczenia interferonem alfa wirusowego zapalenia watroby typu C ze szczególnym uwzglednieniem zaburzen funkcji tarczycy.

Hepatitis C virus infection is a worldwide problem and its natural, unfavorable course is still a challenge for the hepatologist. The standard of treatment is combined therapy with interferon-alpha and ribavirin. This therapy is related to a wide spectrum of side effects that significantly reduce quality of life. Approximately 90% of patients suffer from at least one adverse effect; 15% will therefore have reduced drug dose and 5% will discontinue treatment. The most common acute side effects are flu-like symptoms and chronic effects are hematological, neuropsychiatric, and endocrinological (mainly the thyroid). The latest classification divides interferon-induced thyroid diseases into two groups: autoimmune (Hashimoto disease, Graves-Basedow disease, positive antithyroid autoantibodies in euthyroid patients) and non-autoimmune (destructive thyroiditis, non-autoimmune hypothyroidism). The most common complication of cytokine therapy is the induction of antithyroid autoantibodies de novo without thyroid dysfunction. It seems that destructive thyroiditis with typical biphasic course is more common in therapeutic regimens with ribavirin than in interferon-alpha monotherapy. Clinically overt pathologies very often have very discrete symptoms which cause diagnostic and therapeutic dilemmas. Interferon-induced thyroid disorders are usually mild and sometimes self-limiting; nevertheless, every overt thyroid disease requires endocrinological consultation and possible treatment. In this review the most important current information related to hepatitis C, interferon alpha and ribavirin therapy, and thyroid disorders is collected. A new classification of interferon-induced thyroid disease is proposed.

[One-year follow-up of TSH level and thyroid volume in patients with bone marrow or peripheral blood hematopoietic stem cell transplantation following chemotherapy]. / Stezenie TSH oraz objetosc tarczycy u chorych w pierwszym roku po przeszczepieniu komórek hematopoetycznych szpiku lub krwi obwodowej po przygotowaniu chemioterapia.

UNLABELLED: Bone Hematopoietic Stem Cell Transplantation (HSCT) following high-dose chemo- and radiotherapy became treatment of choice in various numbers of hematological and hereditary or acquired immune disorders. Protocols preparing to allogenic transplantation have a few aims: eradication of neoplastic disease, suppression of defense system of recipient (reduction of transplant rejection), preparation of bone marrow microenvironment to implantation donor's cells. Chemotherapy is combined with acute side effects as nausea, vomiting, diarrhea, hair loss, mucositis, and hemorrhagic cystitis. Late toxic effects also appear, it require prolonged observation and care. Among them most common is dysfunction of thyroid and gonads in adults and growth inhibition in children. The aim of this study was prospective evaluation of thyroid function in adults with autologous and allogeneic BMT or HSCT following myeloablative chemotherapy. MATERIAL AND METHODS: 23 patients (16 females and 7 males) treated in Department of Hematology and Transplantology Medical University of Gdansk were included. Average age was 34.3 years with range from 17-50 years. Each patient had endocrinological interview, physical examination of thyroid, TSH level assessment and ultrasonographic thyroid volume measurement before HSCT Identical control examinations were performed in third and twenty month after transplantation. TSH level and thyroid volume were tested for significant differences before and after transplantation using paired t-tests. A P-value of < 0.05 was considered statistically significant. RESULTS: 12 months after HSCT following myeloablative chemotherapy we noted on average decrease in volume of thyroid from 17,5 ml to 13.5 ml (females to 9.7 ml). This difference was statistically significant with p = 0.002. Also 12 months after the procedure progressive rise in TSH level was noted from 2.0 mU/l to 3.2 mU/l. Nevertheless this tendency was not statistically significant with p = 0.08. CONCLUSIONS: We suggest control of TSH, fT4 level and thyroid ultrasound examination at least twice--before and 12 months after transplantation. Myeloablative chemotherapy before HSCT may cause early (after 3 months) hypothyroidism--it may last one year after procedure. In case of high TSH level we suggest individually adapted L-thyroxine replacement therapy.

[The prevalence of incidentaloma--asymptomatic thyroid nodules in the Tricity (Gdansk, Sopot, Gdynia) population]. / Czestosc wystepowania guzków incydentalnych w tarczycy w populacji mieszkanców Trójmiasta (Gdansk, Sopot, Gdynia).

INTRODUCTION: The increased sensitivity of imaging devices raised number of incidentally discovered lesions in various organs of the human body. Thyroid gland is one of them. Reported prevalence of ultrasonographically detected thyroid nodules (incidentalomas) in general population ranges from 5.2 to 67.0%. Our study demonstrated occurrence of this clinical problem in the general population of the Tricity. MATERIAL AND METHODS: 135 healthy adults (95 women and 40 men) were examined. Neck palpation, ultrasonographic examinations of thyroid gland and serum tyreotropin (TSH) level measurement were made. RESULTS: In 8.9% of examine (12/135) persons nodules were palpable whereas in 14.8% (20/135) they were detectable only in ultrasonographic examination. Altogether thyroid ultrasound and palpation revealed nodules in 23.7% (32/135) of all cases. Multiple nodules were present in 12.0% of the cases. The pathology was more common in the elderly and in women. TSH serum level was within normal range in all cases of incidentaloma with otherwise normal thyroid gland. CONCLUSIONS: Prevalence of thyroid gland nodules (palpation--8.9% plus ultrasonography--14.8%) in healthy population of Gdansk, Gdynia and Sopot is close to data reported in southern Finland (27.0%) and Belgium (19.0%), where iodine deficiency is small, like in the Tricity area. The revealed lesions were over two times more frequent in the female population. Most of the nodules were not palpable.

A case report of Gitelman syndrome resulting from two novel mutations in SLC12A3 gene.

INTRODUCTION: Hypokalaemia is a common clinical problem. A potential but commonly overlooked cause of hypokalaemia is Gitelman syndrome. MATERIAL AND METHODS: A 26-year-old man was admitted to the hospital due to syncope with general and muscular weakness and muscle cramps. The patient's history revealed previous recurrent syncope events associated to hypokalaemia with the lowest serum potassium value being 2.6mmol/l. At admission, blood pressure was normal and no changes were found at physical examination. Laboratory tests showed mild hypokalaemia (3.0mmol/l), hypomagnesaemia (1.36mg/dl), hypocalciuria (< 40mg/24h), and metabolic alkalosis (HCO3(-) 29.7mmol/l, BE 5.3mmol/l). RESULTS: Further laboratory tests (FeK, TTKG) confirmed inappropriate kaliuresis. Conn's disease was excluded by hormonal and imaging assessments. Genetic testing was performed and two novel heterozygous mutations: c.35_36insA and c.1095+5G>A were found in transcript NM_000339.2 in SLC12A3 gene. CONCLUSION: The patient was diagnosed with Gitelman syndrome and was treated with supplements of potassium and magnesium.