ACTA ENDOCRINOLOGICA (BUC)

Context. Non-psychogenic polydipsia-induced hyponatremia is a rare clinical finding. The effects of severe hyponatremia on the electrical activity of the heart in this setting are far from clear. Case report. Resting ECG and 24-h ambulatory ECG monitoring performed in an 80-year-old hypertensive female accusing nonspecific symptoms of confusion, lethargy, disorientation, nausea, and palpitations, demonstrated significant intraatrial and atrioventricular conduction disorders and numerous atrial tachyarrhythmia episodes. Laboratory analysis revealed severe hyponatremia (108 mEq/L) as only significant disorder. Extensive endocrine, neurological, cardiology, and pulmonary examinations excluded the most common causes of hyponatremia, including the inappropriate antidiuretic hormone secretion syndrome. Careful history revealed excessive voluntary water intake of up to 6 L/day and low sodium intake, associated with long-term thiazidelike diuretic treatment. Correction of sodium levels was associated with complete resolution of both atrial arrhythmias and conduction disorders. Conclusions. This report presents the first case of severe hyponatremia caused by combined non-psychogenic polydipsia and thiazide-like diuretic use complicated with reversible cardiac conduction disorders and atrial arrhythmias. The close temporal relationship between the fully reversible cardiac electric abnormalities and severe hyponatremia strongly indicates hyponatremia as key feature in the pathogenesis of these electric abnormalities.

Context. Hyponatremia is a common electrolyte abnormality. Objective. We report a patient who presented with hyponatremia and diagnosed as small cell lung cancer metastatic to hypothalamus and pituitary. Case report. A 68 year old male patient was admitted with fever and cough and pneumonia was considered. Serum sodium level was 113 mmol/L. Syndrome of in appropriate ADH (SIADH) is considered. Thyroid function tests and cortisol levels pointed out a central deficiency in both axes. Pituitary MRI was performed and a hypothalamic and pituitary mass were observed. Prednisolone therapy was started followed by L thyroxine replacement. A chest computer tomography (CT) was taken 2 weeks later revealed a mass lesion. Bronchoscopic biopsy was performed and histopathological diagnosis of the tumor was reported as small cell lung cancer. Result. Many mechanisms were considered as the cause of hyponatremia in our patient. SIADH, secondary adrenal insufficiency and secondary hypothyroidism due to pituitary metastasis are possible causes. Conclusion. The reason of hyponatremia is sometimes complex. When the underlying causes of hyponatremia are not evaluated in detail, many diagnoses can be missed.

Neuroendocrine carcinoma (NEC) of the larynx is the most frequent neuroendocrine neoplasm of the head and neck and the most common nonsquamous carcinoma of the larynx. It usually occurs in the supraglottic area, in smoking men. We report a case of a 58-year-old woman with no history of smoking who presented with an atypical carcinoid, arising in the right piriform sinus of the larynx. During the 5-year follow-up, the patient developed metastases in the lymph nodes, palatine tonsils, parotid glands, breasts and skin. For this reason the patient underwent several surgical procedures, radiotherapy and eventually was qualified for chemotherapy. Our case shows that NEC of the larynx can have an atypical presentation. The diagnosis requires careful pathological evaluation with immunohistochemistry and a wide spectrum of imaging. The serum concentration of chromogranin A seems to be not useful in the diagnosis and follow-up of laryngeal NEC.

Resistance to thyroid hormone (RTH) is an inherited disease transmitted in an autosomal dominant manner. The diagnosis is suspected when peripheral thyroid hormones are increased contrasting with normal or increased levels of thyroid stimulating hormone. Usually, people harboring the rare syndrome have few or no symptoms. However, in some patients signs of hyperthyroidism may be the revealing anomalies as in the following case: A 75 year-old woman was referred to our department for a benign adrenal incidentaloma. In her medical history she was treated for systemic hypertension and diabetes mellitus for 15 years. Clinical examination did not show any sign of adrenal secretion, but discovered rapid irregular cardiac rhythm with some hyperthyroidism features such as increased sweating and upper limbs and jaw tremor. Electrocardiogram showed atrial fibrillation. Hormonal assessment confirmed hyperthyroidism as FT4 levels were high (mean value: 30.2pmol/L (n= 9–23)), contrasting with non-suppressed TSH levels (13.8μU/mL (n = 0.2 – 4)). Cerebral magnetic resonance imaging was normal. Genetic testing revealed a new heterozygous mutation on exon 10 in the THRβ gene (c.1366T>G) compatible with RTH syndrome. Screening of her children showed the same hormonal profile in five out of ten. These results confirmed RTH and the familial character.

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Hypothyroidism is a common endocrine disease with characteristic symptoms and signs such as fatigue, weight gain, intolerance of cold, constipation, depression, mental slowdown and muscle cramps. Myopathic changes are observed in 30-80% of patients with hypothyroidism, but muscular hypertrophy with muscle stiffness has been reported in less than 10% of patients. Hoffmann’s syndrome is a specific form of the hypothyroid-associated myopathy, rarely seen. Symptoms of this syndrome include proximal muscle weakness, hypertrophies in extremities, stiffness, muscle cramps, spontaneous muscle pain; and are associated with increased muscle enzymes. These findings can be seen at any time during hypothyroidism. Hofmann’s syndrome has a very good prognosis. Its response to hormone replacement therapy is very good. Therefore, in patients with myopathylike symptoms, considering in the differential diagnosis that the myopathy may be a reflection of hypothyroidism will facilitate the diagnosis and treatment. In this case, we aimed to present together Hashimoto thyroiditis and muscular hypertrophy, which is an atypical presentation of hypothyroidism and rarely seen in the literature, namely Hoffmann’s syndrome.

Context. Amiodarone use has been associated with Syndrome of Inappropriate Anti-Diuretic Hormone (SIADH) with only 12 cases reported from its first description in 1996. Objective. The clinical use of the antiarrhythmogenic drug amiodarone is frequently complicated by a very broad spectrum of side effects: cardiac toxicity, hypo- and hyper-thyroidism, pulmonary fibrosis and liver function abnormalities. We report the case of a patient with amiodarone-induced SIADH with the particularity of a very late onset of these adverse effects. Case. A 78 years old man on amiodarone therapy for a history of complex ventricular arrhythmia after a myocardial infarction, comes to the Emergency Department of our Hospital for pre-syncopal symptoms. Laboratory test showed a hypo-osmotic hyponatremia (sodium 110 mEq/L, serum osmolality 233 mOsm/kg) associated with liver enzymes increases. A not suppressed urinary osmolality with high urinary sodium excretion associated with normal thyroid and adrenal functions led to the diagnosis of SIADH. Known associated disorders (neoplasms, lung diseases and central nervous system disorders) were suspected and excluded. A pharmacologic aetiology was suspected and, in the absence of diuretics and neurological drugs, amiodarone seemed the most probable cause of the SIADH. Hypertonic saline solution and fluid restriction were initiated and amiodarone discontinued with a gradual normalization of plasma sodium levels and liver enzymes. Conclusion. The clinical case underlines the importance of monitoring amiodarone-related SIADH with frequent electrolytes biochemical assessment not only in relation to an early but also to a late clinical onset.

Chronic ingestion of licorice is known to cause numerous metabolic and electrolyte disturbances. Severe hyponatremia, hypertension, and hypokalemia as well as metabolic alkalosis are amongst the most common consequences of chronic ingestion resulting in an apparent mineralocorticoid excess (AME). Treatment predominantly consists of cessation of licorice ingestion, potassium replenishment and aldosterone antagonists. Given the potentially lethal effects of chronic licorice ingestion, clinicians should be made aware of the presentation of AME and the proper management. We present the rare case of a 62-year-old male with licorice-induced apparent mineralocorticoid excess secondary to excessive licorice tea intake. Initial presentation included severe hypokalemia of 2.2mmol/L and hypertension of 180/110mmHg, while eunatremic (Na, 144meq/L).

Proprotein convertase 1/3 (PC 1/3) deficiency is a rare, autosomal recessive disorder caused by mutations in the PCSK1 gene. The disease is characterized by earlyonset chronic diarrhea/malabsorption, followed by severe obesity and hormonal deficiencies such as hypocortisolism, hypothyroidism, diabetes insipidus, hypogonadism, growth deficiency, and diabetes mellitus. Ewing’s sarcoma is a rare tumor, usually of small dimensions of neuroectodermal origin that is difficult to distinguish pathologically from a primitive neuroectodermal tumor. A 22-year-old female patient with PC 1/3 deficiency was admitted to our clinic with recurrent urinary tract infections. Magnetic resonance imaging (MRI) revealed an 11x12 cm pelvic mass displacing the uterus. A core-needle biopsy was performed on the pelvic mass. As a result of the pathological evaluation, ıt was diagnosed with pelvic Ewing’s sarcoma. The patient was started on the VAC-IE chemotherapy protocol. We report a case of pelvic Ewing’s sarcoma in a patient with PC 1/3 deficiency. Further research is needed to assess malignancy risk in metabolic disorders including very rare disorders like PC 1/3 deficiency.

Introduction. Primary hyperparathyroidism may have several presentations, varying from an incidental asymptomatic biochemical finding to gastrointestinal, psychiatric, renal and bone manifestations. Brown tumors are rare non-neoplastic lesions because of abnormal bone metabolism. Herein, we describe a patient who presented with lytic bony lesions and severe asymptomatic hypercalcemia due to parathyroid adenoma. Case presentation. A 38-year-old male presented with multiple painful bony lesions over upper and lower limbs. Radiographs of long bones showed multiple lytic lesions with cortical thinning. Investigations revealed hypercalcemia and hyperparathyroidism. A radionuclide scan showed parathyroid adenoma. The patient was treated for hypercalcemia and a parathyroidectomy was performed. Conclusions. In a patient presenting with multiple bony swellings and asymptomatic hypercalcemia, hyperparathyroidism should be suspected. Parathyroid adenoma is a treatable cause of primary hyperparathyroidism.