Endocrine Abstracts

Introduction: Primary hyperaldosteronism (PHA) is the most common hormonal cause of hypertension concerning about 5–12% of hypertensive individuals. Aldosterone to renin ratio (ARR) and 24 h urine aldosterone concentration (24-UAC) are important tools in PHA screening diagnostics. The most appropriate cutt off values predicting PHA are still being discussed. The study is to assess siutability and to determine optimal cut off values of ARR and 24-UAC for accurate PHA pred...

Introduction: Primary adrenocortical carcinoma (ACC) is a highly malignant but rare neoplasm. It can occur as a hormonally active or an inactive tumor. It is considered that about three-fourths of ACC cases are hormonally active, although they do not always give clinical symptoms. Mitotane (Lysodren) is registered by the FDA for the therapy of ACC, either for monotherapy or as a combined chemotherapy.Case report: A 34-year-old woman, with a histopatholog...

Biochemical function of adrenal masses is currently based on 1 mg post-overnight dexamethasone suppression test (pDST). Several approaches are recently developed, in order to reduce false positive/negative samples, only in retrospective series. They are based on the correlation of some different parameters, i.e. late-night salivary cortisol (LNSC) vs serum and salivary cortisol pDST; LNSC vs serum and salivary cortisol and serum dexamethasone pDST; LNSC and cortisone vs serum ...

Introduction: Ectopic Cushing Syndrome (ECS) is a rare disease associated with significant comorbidity. Among the causes of Cushing’s syndrome (CS), ACTH-producing extrahypophyseal tumours are rarely reported. The aim of our study is to describe the clinical, diagnostic and therapeutic characteristics of patients with ECS treated in our Endocrinology department over a 15-year period.Methods: A cross-sectional unicentric retrospective study was desi...

Introduction: Primary aldosteronism (PA) is a potentially curable cause of hypertension. In 2007, a standardized PA work-up protocol was introduced in Landspitali University Hospital (LUH), a tertiary care center for Iceland. The aim of this study is to review treatment response for patients diagnosed with unilateral and bilateral PA in LUH 2007–2016.Methods: All charts for PA-patients aged ≥18, diagnosed 2007–2016 in LUH, were retrospe...

The loss of nychthemeral rhythm is a feature of endogenous hypercorticism that may be investigated by the assay of midnight salivary cortisol (serC0h) although often replaced by serum cortisol assay. However, manufacturers of cortisol immunoassays kits seldom provide reference values for this horary. We present here tentative reference values of serC0h with an automated imunoanalyzer (DXi800, Beckman Coulter).The population retrospe...

Background: Ectopic Cushing Syndrom (ECS) represents approximately 12% of all patients with Cushing´s disease. Either ACTH (5–10%), CRH or cortisol is produced uncontrolled from nonpituitary tissue. Half of ECS cases are neuroendocrine lung tumors [carcinoid tumors > small cell lung carcinoma (SCLC)], but ECS is clinically apparent only in 1–5% of SCLC cases. Clinical features vary according to extent and duration of exposure to ACTH/Cortisol excess and in...

Introduction: Hypertension is a severe medical condition that significantly increases mortality and disability worldwide. Most hypertensive patients are classified with essential hypertension; however, secondary hypertension is present 5–10% of all cases. Aortic stenosis is a significant cause of secondary hypertension in children and adolescents. Middle-aortic syndrome constitutes 0.5%–2% of all cases of aortic stenosis. The stenosis involves the abdominal aorta a...

Introduction: Chronic inflammation is an important factor in type 2 diabetes and cardiovascular diseases development. Studies demonstrate that body fat, estimated by anthropometric indicators, correlates with inflammation indicators in chronic diseases. Ipso facto, it seems reasonable to suppose, that there would also be a correlation between anthropometric parameters and both, old and new inflammation indicators in patients with non-functioning adrenal incidentalomas.<p c...

Background: Neuroblastomas are malignant tumors that arise from sympathetic plexus or adrenal medulla. Their clinical behavior can range from spontaneous regression to aggressive disease. Like paragangliomas, they have the capacity to secrete catecholamines and to express somatostatin receptors, which is important for diagnostic and treatment purposes. However, the differential diagnosis with paraganglioma can be challenging. We present a case of a catecholamine-producing tumo...

Introduction: Paraganglioma (PGL) is a neuroendocrine tumor (NET) originating from the neural crest cells. Head and neck paraganglioma (HNPGL) often presents as an asymptomatic slow growing tumor and is rarely functional. Adrenal incidentaloma (AI) is defined as a silent adrenal mass detected on imaging performed for unrelated disorder. Malignant peripheral nerve sheath tumor (MPNST) is a variety of soft tissue sarcoma derived from cells of neural crest....

Introduction: Pheochromocytoma and most abdominal paraganglioma (PPGL) can secrete catecholamines. In vitro and in vivo, catecholamines modulate bone remodeling by stimulating bone resorption. In patients with PPGL, four studies have previously demonstrated an increase of biological markers of bone resorption, a decreased of bone density and a higher prevalence of vertebral fractures. We report two patients with malignant abdominal secreting paraganglioma pre...

Two female patients, A – 61-year-old, B – 68-year-old, were admitted to hospital with symptoms of hypercortisolemia. Both of them were diagnosed with neuroendocrine tumor (NET), patient A with pancreatic NET G3 (Ki67 – 30%), and patient B with a disease with a probable primary origin in lungs - NET G2 (Ki67 - 15%). Both women had metastases to the liver. While laboratory results were similar in both cases (high level of cortisol – up to 1750 nmol/l and ...

Introduction: Adrenocortical carcinoma (ACC) is a very rare entity with a variable clinical presentation.Objective: To review the casuistry of ACC in our center in the last 15 years and to assess clinical characteristics and evolution in our patients.Material and method: We searched cases of ACC from 2004 to December 2018 registered in the Pathology Department.Results: Fifteen cases were found, 9 women and 6 ...

Introduction: Pheochromocytomas are rare neuroendocrine tumors arising from chromaffincells of the adrenal gland or extra-adrenal paragangliomas. These tumors cause a hypersecretion of catecholamines, resulting in high blood pressure (HBP) and eventual cardiovascular complications. The point of this study is to go through the different clinical aspects of high blood pressure related to pheochromocytomas.Methods: This is a retrospective study about 8 pati...

Case report: Adrenal pseudocysts are rare bening lesions that usually mimick solid tumors on imaging. Although they are asymptomatic and often discovered incidentally, distinguishing them from clinically important adrenocortical masses may be problematic before surgery. We report the case of a 50-years-old female who was referred to endocrinology outpatient clinic with a 54×58×50 mm sized mass in the left adrenal gland. Abdominal MRI which was performed because of ri...

A 40-year Caucasian female referred to Diabetes centre in November 2016. Her main complaints were 20 kg weight gain over the past 4 years, muscle weakness, high blood glucose readings, high blood pressure (up to 180/100 mmHg),menstrual irregularity.Medical historyShe was diagnosed with T2DM at the age of 39 year. She did not take any blood glucose lowering medication. Her blood glucose readings were: 12 mmol/l at fasting, 20 mmol/l...

Hyperandrogenism and virilization are infrecuent in postmenopausal women and may result from androgen-producing tumors. Androgen-secreting adrenal tumors are rare in clinical practice and often diagnosed as adrenocortical carcinoma, while benign androgen-secreting adrenal tumors are even more rare.Case presentation: A 63-year-old postmenopausal woman in follow-up for hypothyroidism reported hair loss, increased libido accompanied by deepening of the voic...

Introduction: Incidentally discovered adrenal incidentalomas has been reported to be as high as 5% of abdominal cross-sectional imaging performed for reasons unrelated to the adrenal gland. Although the management of bilateral and unilateral incidentalomas is the same, some studies suggest differences between the two groups.Patients and Methods: Retrospective study including 91 patients with adrenal incidentaloma at the Department of Endocrinology, Charl...

Introduction: Congenital adrenal hyperplasia (CAH) represent a group of diseases in steroid biosynthesis, due to an enzyme lack in the transformation of cholesterol to cortisol. Women with menstrual dysfunction responds well to adrenocortical inhibition with prednisone, and the significant improvement of menstrual regularity is frequently noted. We report a case of successful pregnancy in a patient with CAH for the first time.Case presentation: A 35-year...

Introduction: Congenital Adrenal Hyperplasia (CAH) results from enzymatic defects caused by autossomal recessive hereditary mutations characterized by deficient cortisol synthesis and, in most cases, increased androgen synthesis. 90–95% of the cases are originated by deficits in 21-hydroxylase and, in about 75% of the cases, there is evidence of mineralocorticoid deficiency.Case report: A 37-year-old patient was referred to an Endocrinology departm...

Background: Hypokalemia can be caused by decreased intake of potassium or by excessive loss of potassium in the urine or through the gastrointestinal tract. Severe and life-threatening hypokalemia is defined by levels below 2.5 mEq/l and can be associated with muscle weakness, cramping, headaches, palpitations, polydipsia and polyuria. Periodic paralysis is a very rare presentation in Caucasians.Case presentation: A 50-year-old Caucasian man, without pre...

Myxoid adrenocortical adenoma is a rare adenoma originated from adrenal cortex. A 51 years old male patient was admitted to our hospital due to hypertension and hypokalemia. He has a long history of nonregulated hypertension despite multiple antihypertensive medications. Hypokalemia was detected in last two years with potassium levels around 3.0 mmol/l on high supplementation dose up to 10–16 g of KCl/day. He is obese in the past 10 years. His family history was positive...

Background: Primary hyperaldosteronism or Conn’s syndrome is one of the adrenocortical causes of hypertension, alongside hyperdeoxycorticosteronism, apparent mineralocorticoid excess and Cushing syndrome. The two types of hypertension-inducing adrenocortical syndromes (Conn’s and Cushing) are extremely rare to be decribed in the same patient. We describe a case of a patient with clinical and biochemical evidence of Conn’s syndrome due to a left adrenal adenom...

Background: Adrenal venous sampling (AVS) is the gold standard method that evaluates the source of aldosterone overproduction in primary aldosteronism. During AVS aldosterone and cortisol are simultaneously measured in order to assess successful adrenal cannulation and lateralization of aldosterone overproduction. However, in patients with both adrenal cortisol and aldosterone overproduction, plasma metaneprhines and normetanephrines can be measured to overcome selectivity and...

Introduction: Adrenal vein sampling (AVS) is the gold standard test to distinguish between unilateral adenoma and bilateral hyperplasia in primary hyperaldosteronism. This is a technical complicated procedure with a variable success rate. Our aim was to report our 10-year-success rate and results as regards to this procedure.Material and Methods: Retrospective observational study including data from patients undergoing AVS between 2009 and 2019.<p cl...

Dehydroepiandrosterone sulfate (DHEAS) is a sulfated ester of dehydroepiandrosterone. Studies of large number of males with DHEAS pathology are infrequent.Objective: To perform an investigation of significance of DHEAS assessment in males of different ages.Subjects. Methods. ResultsWe analyzed clinical data of 3533 patient’s (3013 females and 520 males) from DHEAS assessment lists of Vilnius and Kaunas ...

Introduction: Primary hyperaldosteronism is the first cause of secondary hypertension during pregnancy. The diagnosis is too difficult due to the changes in the renin angiotensin system.Observation: We report the case of a 37 years old women with a history of pre-eclampsia during her pregnancy who consulted the emergency 20 days after delivery for severe hypertension (23/11) and severe hypokalemia (2.2 mmol/l ) resistant to intravenous treatment. The ald...

Congenital adrenal hyperplasia (CAH) is a common autosomal recessive genetic disorder. Impaired cortisol production leads to increased adrenocorticotropic hormone (ACTH) levels. Testicular adrenal rest tumor (TART) is a complication of CAH. It is a rare clinical condition usually presented as testicular masses. TARTs may be misdiagnosed as testicular Leydig cell tumors. We report a case of congenital adrenal hyperplasia (CAH) due to 11-beta hydroxylase enzyme deficiency who un...

Introduction: Short Synacthen tests (SST) are expensive, inconvenient, time consuming and subject to Synacthen availability. Any strategy reducing the need for SSTs will improve its cost effectiveness and also improve patient satisfaction. In this regard indications for SST and assay specific pre-test cortisol levels (not all SSTs are done at 0900 h) may have clinical utility.Methods: We retrospectively examined the indications for, time and place of tes...

CYP11B2 is a key enzyme of primary aldosteronism, and several factors are involved in the regulation of CYP11B2 expression and the overproduction of aldosterone. Somatic mutations in aldosterone-driver genes are strongly associated with CYP11B2 expression and have been only detected in the CYP11B2-positive tumor area, indicating that aldosterone producing adenoma (APA) intratumoral heterogeneity corresponds to non-uniform CYP11B2 expression in neoplastic cells. In addition, CY...

Aims: We investigated the clinical characteristics and follow-up findings of subjects with adrenal incidentalomas (AI) in a single, tertiary-care hospital in Yekaterinburg, Russia.Methods: This study retrospectively evaluated consecutive patients aged 18 years or older with benign AI, not treated with adrenalectomy, which were non--functioning (n-56). The initial and follow up evaluation, including clinical assessment, hormonal investigations and imaging...

Introduction: Pheochromocytoma and paraganglioma are rare in the pediatric population occurring in approximately 1 in 50 000 children. The clinical presentation may range from asymptomatic to the classic triad of episodic diaphoresis, headache, and palpitations. Among hypertensive children, the incidence of surgically confirmed pheochromocytoma or catecholamine-secreting paraganglioma ranges from 0.8 to 1.7 percent. Catecholamine-secreting paragangliomas are often loc...

Introduction: Adrenocortical carcinoma (ACC) is a rare aggressive endocrine neoplasm. It’s a heterogeneous malignant tumor with incompletely understood pathogenesis and poor prognosis. The aim of our study was to assess clinical and paraclinical characteristics of ACC and to determine its outcome.Methods: In a retrospective and descriptive study, we included patients with adrenocortical carcinoma confirmed with histopathological examination. Clinic...

Introduction: Mediastinal paragangliomas are rare. These tumours can be associated with increased morbidity and mortality when invasive growth to the heart, great vessels, esophagus and trachea occurs. Surgical resection, if feasible, is the treatment of choice.Case report: A 50-year-old man presented with severe and refractory left gluteal pain radiating to the posterior thigh for two months. The patient had no relevant medical history and no other symp...

Introduction: Paragangliomas are rare endocrine tumors that represent extra-adrenal localization of pheochromocytomas. Signs of catecholamine excess are the most found manifestation of this tumor especialy hypertension. However, paragangliomas can be asymptomatic or can manifest with nonspecific signs. The association between pheochromocytomas and inflammatory diseases is exceptional.Observation: Here we report the case of a 26 years old male that was ad...

Introduction: Pheochromocytoma is a rare tumor of adrenal gland tissue that is responsible for secondary hypertension and other clinical manifestations resulting from catecholamine excess and it can result in severe damage to other body systems, especially the cardiovascular system. Here we report an atypical presentation of pheochromocytoma.Presentation: A 40 years old female patient that was admitted into the internal medicine ward with acute ischemia ...

Introduction: Paraganglioma type 4 is the second most common hereditary paraganglioma syndrome. It is due to a mutation in the succinate dehydrogenase B (SDHB) gene. Associated with high morbimortality for presenting high penetrance (77%) and debut at an early age with a high probability of malignancy (31–71%). In terms of follow-up, annual biochemical monitoring is recommended for mutation carriers. However, the affected gene should be taken into account, for example: t...

Introduction: Several familial disorders could be associated with adrenal pheochromocytoma such as Von Hippel–Lindau (VHL) syndrome, multiple endocrine neoplasia type 2 (MEN2) and, less commonly, neurofibromatosis type 1 (NF1). Herein, we report three cases of pheochromocytoma as a part of genetic syndromes.ObservationsPatient 1A 34-year-old women with no familial history, was diagnosed with severe hype...

Background: An 81-year-old gentleman presented to his GP with a 2 week history of reduced appetite, lethargy and 2–3 kg weight loss over the last month. On routine bloods, his potassium was noted to be 2.2 mmol/l. He was being treated in the community with indapamide, losartan and amlodipine for hypertension. He was admitted to hospital for IV replacement. However, he had persistent hypokalaemia (<2.9 mmol/l) for 3 days despite appropriate replacement and suspension ...

Introduction: Primary hyperaldosteronism (PH) is a cause of arterial hypertension (HT). The prevalence ranged from 1 to 15%. PH is associated with higher rates of cardiovascular morbidity and mortality. PH is under-diagnosed. The aims were to know the prevalence of PH, the clinical and hormonal profiles, outcomes, and prognosis of our population.Material and Methods: A retrospective review of patients with primary hyperaldosteronism in our hospital in th...

Introduction: Metabolic disorder has been frequently observed in chronic obstructive pulmonary disease (COPD) patients. In particular, metabolic comorbidities exert a major impact on patients’ morbidity and mortality. Diabetes mellitus, dyslipidemia and osteoporosis are among the most commonly reported metabolic comorbidities in patients with chronic lung disease. COPD patients with comorbidities, such as metabolic disease, are generally more dyspnoeic and have worse hea...

Introduction: Addison Disease is a rare condition with an estimated incidence in the developed world of 0.8 cases per 100 000 population. It is associated with relevant morbidity and mortality rates, but once the diagnosis is made it can be easily managed. When Addison Disease is associated with other autoimmune diseases, the diagnosis of polyglandular autoimmune syndrome can be set. The recognition of symptoms and signs can be challenging and clinicians should be aware of aty...

Introduction: Primary aldosteronism (PA) is an important cause of secondary hypertension, associated with increased cardiovascular morbidity and mortality rate compared to patients with essential hypertension.Case report: We report the case of a 59-year-old Caucasian male with a medical history of dilatative cardiomiopathy, paroxysmal atrial fibrillation and bifascicular block who was admitted to the E.R. with shortness of breath, headache, palpitations,...

Background: Stiff Person Syndrome (SPS) is an extremely rare neurological disorder, with an expected prevalence of less than 1 per million. The first described case of SPS in the literature was reported in 1959 by Moersch and Woltman. SPS is featured by progressive muscle stiffness, rigidity, and spasm involving the axial muscles, which may result in severely impaired ambulation. SPS seems to have an autoimmune basis although its exact pathogenic mechanism is still cloudy. Mos...

Introduction: Bilateral adrenal incidentalomas represent a challenge both in diagnosis and therapeutic approaches. While initial testing is similar to unilateral adrenal incidentalomas, additional investigations should be made considering the differences between the distribution of etiologies.Case report: We report the case of a 67 years old hypertensive female, presenting with backpain; an initial abdominal ultrasound described left adrenal mass and a l...

Background: Primary aldosteronism (PA) is the most frequent cause of hormonal hypertension, typically associated with hypokalaemia. Whereas hypertension with no hypokalaemia can be present in even half of cases, hypokaleamia in normotensive patients is a very rare finding. Mechanisms that act against developing hypertension despite aldosterone excess are at least a few. Some patients with previous low blood pressure increase its values because of hyperaldosteronism, thus still...

Introduction: Described in 1990 by N Sato et al., Takotsubo syndrome (TS) is an acute myocardial dysfunction with the development of heart failure.Objective: We present a description of the clinical case of ST after adrenalectomy for pheochromocytoma.Results: Pheochromocytoma of the left adrenal gland (methanephrine 553.7 pg/ml (norm <65) and plasma normmetanephrine 458 pg/ml (norm <196) was verified in 27-year-old...

Ectopic adrenocorticotropic hormone (ACTH) syndrome occurs in about 5–10% of all patients with ACTH-dependent hypercortisolism. We present the case of a 35 year old gentleman who presented with a six month history of progressive 16 kg weight gain and breathlessness. Pulmonary imaging revealed bilateral infiltrates suspicious for Pneumocystis pneumonia (PCP). Physical examination was concerning for Cushing’s syndrome, with facial plethora, easy bruisability and broa...

Introduction: Adrenal hemangioma (AH) is a benign vascular tumor of the adrenal gland. The adrenal site of an hemangioma is extremely rare occurring only in 0.01% of cases and accounts for 63 reported cases in the literature. AH are often discovered as incidentalomas either by imaging studies or histologic examination. The role of computed tomography (CT) scan and Magnetic resonance imaging (MRI) is important for the differential diagnosis.Case report: W...

Introduction: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is an uncommon cause (<1%) of endogenous Cushing’s syndrome (CS). Recently, due to increased number of incidental imaging findings of PBMAH, the clinical expression of the disease has changed in favor of oligosymptomatic or subclinical cases, compared to those with clinically manifest CS, or rarely with secretion of mineralocorticoids, or sex steroids.Case report: A 51-yea...

Von Hippel–Lindau (VHL) disease, attributable to germline mutations in the VHL gene on the short arm of chromosome 3 (3p25-26) is an inherited condition which can give rise to paragangliomas. We present a case of 47 year old gentleman with bilateral pheochromocytomas in the past resulting in both adrenalectomies as a child in the 1980. His routine follow up subsequently picked up elevated urine Normetanephrines at 14.3 µmol/24 h 25 years postoperatively. His CT abdo...

Because of quite variable clinical manifestations of Cushing’s syndrome and overlap with more common medical problems, its diagnosis is frequently mistaken, with consequent considerable delay from the first presentation to a different primary and secondary care physicians to a final diagnosis, often made by endocrinologist. The diagnostic latency in reported studies vary from six months to ten years. We report a case of a 54-years-old female admitted to the hospital thro...

Introduction: Adrenal carcinomas are rare tumor. It has an estimated incidence of ~0.5–2 new cases per million people per year. Just 25% of adults with hormone-secreting adrenal carcinomas present overproduction of both glucocorticoids and androgens. Women develop adrenal carcinomas more often than men.Objectives: We report a case of 47-year-old female presented with weight gain, generalized weakness and hypertension for the last 6 months. Phy...

A 54-year-old female presented with muscle cramps and arterial hypertension. She was taking spironolactone 25 mg for hypertension. Her K+ level at first visit was 2.5 mmol/l. She was recommended to stop spironolactone, start potassium suplements, and measure Aldosterone, Renin, and K+ levels after 4 weeks. The Patient is a medical doctor. By her own decision CT of the abdomen was performed that showed 6.5 cm mass in left adrenal gland. The density was +28 HU. Some ...

Introduction: Autoimmune polyglandular syndromes (APS) are affected by a primary lesion of 2 or more peripheral endocrine glands with the development of their insufficiency. Examination of people suffering from a disease, which may be part of combined autoimmune endocrinopathies.The aimTo study the features of the course APS.Materials and methods: Patient M., 11 years old with complaints of increased blood gl...

Primary adrenal lymphoma(PAL) is very rare and constitutes <1% of cases of extranodal lymphomas. Most common subtype of PAL is diffuse large B cell lymphoma. A 46-year-old male patient without any underlying disease was admitted to our hospital with a complaint of bilateral back pain, cough and fever. His laboratory tests revealed a hemoglobin: 5 g/dl (14–17.5), white blood cell: 3.8 103/µl (4.4–11.3), platelet: 111 103/µl (130&#...

Background: The clinical diagnosis of pheochromocytoma requires improved clinical reasoning due to the scarcity of symptoms and complementary tests that are not always confirmatory.Clinical case: A 58-year-old female patient sought an endocrinology service at the University Hospital for investigation of Adrenal tumor on the right, measuring 3.8×4.5×3.8 cm, discovered during routine ultrasound. He reported vague symptoms of abdominal discomfort ...