Endocrine Abstracts

Background: Short synacthen(cosyntropin)test, has replaced the insulin stress test as the first-line test to assess adrenal insufficiency. The aim of this study, was to determine the utility of the 30 and 60 min cortisol measurement in the high dose (250 μg) short synacthen test.Methods: Cross sectional study was conducted by reviewing the database of patients underwent short synacthen test in Al-Faiha Diabetes Endocrine and Metabolism Center (FDEMC...

Objective: We have developed (123/131I)iodometomidate (IMTO) for specific adrenal imaging and radiotherapy of adrenocortical carcinoma. IMTO binds with high affinity and specificity to the two adrenocortical enzymes aldosterone synthase (CYP11B2) and 11β-hydroxylase (CYP11B1). Metabolic analysis has revealed very rapid metabolization of IMTO both in vitro and in vivo by hepatic esterases. Due to the low metabolic stability of (123/131</su...

Introduction: Cushing’s syndrome (CS) is associated with central obesity, hypertension, insulin resistance, dyslipidemia, prothrombotic state, manifestations which form a metabolic syndrome. Accelerated vascular senescence, due to metabolic and vascular changes, increases, in CS, the cardiovascular risk and the mortality rates compared to age- and gender-matched population. On the other hand, obesity itself is associated with numerous comorbidities, including hypertension...

Introduction: We report the clinical presentation of pheochromocytoma with Cushing’s syndrome due to ectopic production of ACTH, and assess the histopathological diagnosis, treatment modality and prognostic factors compared with the literature.Results: Cushing’s Syndrome due to ectopic ACTH production is uncommon and due to pheochromocytoma is extremely rare. We discuss the case of a 50-year-old female who initially presented with vague, non-sp...

Introduction: The criteria defining the threshold size of adrenal incidentaloma (AI) are >1 cm diameter. However, data about AI ≤1 cm diameter is scant. The aim of this study is to evaluate function of adrenal masses ≤1 cm and to compare them with adrenal masses >1 cm as well as to understand the possible utility of determining salivary cortisol in diagnosis of SCS in patients with AI.Method: The study included 137 consecutive patient...

A 81-year-old woman came to our hospital with complaints of reduction in appetite and weakness of lower limbs. She had developed Cushing’s features. Initial laboratory evaluation revealed severe hypokalemia and hyperglycemia without ketoacidosis, and diabetes mellitus had not been detected previously. A series of hormonal assessment revealed marked ACTH-dependent hypercortisolism. Corticotrophin-releasing hormone stimulation test resulted in normal ACTH response, thus we ...

Objective: Bilateral adrenalectomy (BADX) is an important treatment option for patients with Cushing’s syndrome (CS). The outcome of this procedure has not been studied well.The aim was to analyze long-term outcome of CS patients treated with BADX.Design: Fifty patients with BADX treated since 1990 in two German centers were identified. 34 patients had Cushing’s disease (CD), nine ectopic Cushing-syndrome (ECS), and seven...

Introduction: Some variants of the glucocorticoid receptor (GR) gene have been found to alter glucocorticoid sensitivity and have been associated with worsen metabolic profiles.Objective: The aims of the present study were: i) to examine whether the prevalence of N363S, ER22/23EK and BclI variants was different in patients with adrenal incidentaloma (AI) and/or subclinical Cushing’s syndrome (SCS) than control subjects and ii) whether the presence o...

Introduction: The prevalence of incidentally found adrenal tumors – adrenal incidentalomas (AI) – in imaging procedures and autopsy series is up to 4.5–8.7%. Endocrine and clinical evaluation is carried out to diagnose hormonal function or malignancy of the tumors. Nonfunctional adenomas comprise about 80% of AI. The aim of the study was to identify possible association between various clinical, hormonal and radiological features of nonfunctional AI.<p class...

Introduction: To assess the demographic data, etiological distribution, methods of diagnosis in patients with clinical (CS) and subclinical Cushing’s (SCC) syndrome.Methods: Forty-seven patients, 35 with CS and 12 with SCC patients were evaluated retrospectively.Results: Of the 35 patients with CS, 55% were classified as ACTH-dependent and 43% as ACTH-independent. Pituitary adenoma constituted 54% of cases, adrenal adenoma 34%...

Adrenocortical cancer (ACC) is still orphan of medical treatment. Our preliminary data show that EGF induces ACC cell lines proliferation (+20 and +10% vs control in SW13 and NCI-H295 cell lines respectively). EGF receptor (EGFR) expression is higher and ubiquitous in SW13 cells, while it is weaker in NCI-H295 cells, where it is present only on the membrane. Aim of our study is to analyze EGFR downstream signalling in ACC cell lines.EGF induces VEGF synt...

Introduction: Adrenocortical tumors (ACT) are common diseases mostly benign, but among them, adrenocortical carcinomas (ACC) appear highly aggressive with metastatic potential. Wnt/β-catenin pathway is frequently switched on in ACT, with β-catenin greatly dephosphorylated and consequently activated. While IWR1 induces an increase in Axin2 protein levels, XAV939 inhibits tankyrase 1 and 2 (thus stabilizing Axin): both stimulate β-catenin phosphorylation and degra...

The primary treatment of adrenocortical carcinoma (ACC) is surgery and the adrenolytic mitotane. In order to test the effect of everolimus, nilotinib, imatinib and zoledronic Acid/ZOL in combination with mitotane were used ACC cell line NCI-H295R, in monolayer (2D) and spheroid (3D) cell cultures. The cytotoxicity promoted by treatments was analyzed by MTS and Cell Death assays. These assays were also performed intending of use them to test drugs in tumor cell cultures from pa...

Incidentally discovered adrenal masses (adrenal incidentalomas) are found with increasing frequency due to the widespread use of imaging techniques of the abdomen. Most likely etiology of adrenal incidentaloma is benign non-functional adenoma. But there are rare causes like schwannoma and ganglioneuroma. During 2000 and 2013, we followed 248 adrenal incidentaloma cases that 38 of them operated. Here, we report two of them with the diagnosis of adrenal schwannoma and ganglioneu...

Aim of this study was to investigate the incidence of Cushing’s syndrome (CS) in women with polycystic ovary syndrome.Materials and methods: The study involved 35 women from 17 to 39 years with verified diagnosis of PCOS according to the Rotterdam Consensus (2003). First group – 26 women with PCOS and BMI≥25 kg/m2 and second group – control – nine women with PCOS and BMI≤25−18 kg/m2. Investigate...

Introduction: MElas syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes) is a mitochondrial disease conditioned by mutations in mitochondrial DNA and inherited in the maternal line.Case report: A boy, aged 9, with correct pregnancy II, birth weight 3450 g and of healthy, young parents was admitted to the Department of Endocrinology and Neurology, Medical University of LUblin in a severe condition, with left-sided hemip...

Introduction: Congenital adrenal hyperplasia (CAH) is a prevalent disturb in female to male gender identity disorder (GID). However, psychoendocrinology of GID is not yet fully understood.Case Report: A 22-year-old patient(46, XX), was sent from Psychiatry-Sexology to Endocrinology consultation for GID to start hormonal treatment. Self-awareness as a male began at 12-year-old. Menarche at the age of 13 years. At 14-year-old, it was noticed overgrowth of ...

Introduction: Systemic glucocorticoid therapy may put patients at risk for later adrenal failure during times of stress, but tapering increases cumulative steroid exposure. We prospectively evaluated adrenal function and clinically relevant hypocortisolism after abruptly stopping prednisone treatment in patients with exacerbated COPD.Methods: This is a pre-specified analysis of the REDUCE randomized trial (Journal of American Medical Association...

Introduction: Pasireotide is a multireceptor-targeted somatostatin analogue effective in the treatment of patients with Cushing’s disease (CD) but associated with an increased risk of hyperglycaemia. We prospectively investigate the role of an acute pasireotide suppression test (PST) in predicting long-term response in CD.Methods: Eleven patients with CD (seven females, four males; mean age 45±17.3 years) received at 0900 h a single s.c. inject...

Cortisol is a glucocorticoid hormone with low molecular weight (362 Da) synthesized from cholesterol in the adrenal gland. The release is regulated by the hypothalamic–pituitary-adrenal (HPA) axis. Approximately 95% of the circulating amount is bound to proteins (CBG and albumin), but only the remaining free fraction is biologically active. Serum cortisol level is routinely analysed in laboratory medicine, though the widespread immunoassays (RIA and ECLIA) have the disadv...

A 58-year-old presented with a 19 years history of hypertension and hypokalaemia for 10 years. Her diagnostic workup confirmed autonomous hyperaldosteronism with an aldosterone of 400 pmol/l, plasma renin activity <0.2 pmol/ml per h, ratio >2000. Aldosterone failed to suppress at 430 on the saline suppression test. There was a 1.3 cm right adrenal adenoma on CT scan, Hounsfield units 21. Adrenal vein sampling showed a convincing right: left ratio aldosterone: cortisol ...

Background: Hyponatremia is the most common electrolyte abnormality, it increases morbidity and mortality, but it is not clear if this condition influences mortality independently of other contributing factors. The aim of our study was to assess the relative contribution of hyponatremia to in-hospital mortality and to determine predictive factors associated with hyponatremia-related mortality.Materials and methods: A database search was conducted for all...

Introduction: The diagnosis of an increasing number of adrenal tumors, so-called ‘incidentalomas’, is the result of technological advances in imaging such as abdominal ultrasonography (USG), computed tomography (CT) and magnetic resonance imaging (MRI). We present a case of an accessory spleen mimicking a nonfunctional incidentaloma.Case: An 18-year-old boy was referred for evaluating of left adrenal mass that was detected by USG performed for ...

This study estimates the recovery of bone mineral density (BMD), markers of bone remodeling and quality of life in patients with endogenous Cushing’s syndrome (CS) after 12 months of remission.Materials and methods: Twenty-one patients with CS were prospectively evaluated at active stage of the disease and after being in a full remission (substitutional therapy with hydrocortisone or normal 24 h urinary free cortisol (24 h UFC) and late-night cortis...

Objective: According to some authors a higher incidence of subclinical hypercortisolaemia is found among patients with bilateral adrenal tumors with benign phenotype than with unilateral ones. The question is whether all patients with bilateral adrenal tumors and subclinical hypercortisolemia should undergo surgery and, if yes, which of the tumors should be removed first.Patients and methods: The investigated group consisted of 25 patients with benign bi...

It is well known that successful treatment of Cushing’s syndrome (CS) leads to transient adrenal insufficiency due to suppression of the hypothalamo–pituitary–adrenal (HPA) axis by the long-standing cortisol excess. Reports on HPA recovery in recent years including CS patients with less florid clinical features are scarce. Herein we report our findings in a series of patients with various forms of CS successfully treated in our department over the last 15 years....

Introduction: CBG is the main transport protein for glucocorticoids in blood. CBG gene is a member of the serine protease inhibitor family, located at chromosome 14q32. Inherited CBG deficiency (MIM 611489) is a rarely recessive disorder, and the phenotype associated includes low cortisol levels, presence of normal ACTH levels, hypotension and fatigue, although the exact pathophysiological mechanisms involved remain uncertain. We identified a family with a complex phe...

Adrenal incidentaloma is adrenal tumor incidentally discovered in the region of adrenals, usually investigating for non-endocrine disease.We attempted to find out the current situation of adrenal incidentaloma in Lithuania.The object of research – patients who visited the Lithuanian University of Health Sciences, Kaunas Clinic's Clinic of Endocrinology and Vilnius Endocrinology Center for suspected adrenal pathology in 2007–2011. The total numb...

Life-long glucocorticoid (GC) treatment is needed in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency in order to replace cortisol deficiency and to control ACTH and consequently androgen levels. Therefore, patients with CAH tend to have an increased risk of metabolic syndrome (MS), probably due to cortisol overexposure, caused by multiple daily doses of conventional GCs, unable to mimic cortisol circadian rhythm. The current study aimed at i...

Background: Current standard treatment for adrenal insufficiency in neonates and infants is unsatisfactory as unlicensed adult dosage formulations are used. These are generally difficult to administer and may give rise to inconsistencies in dose as the content uniformity of the dosage form cannot be verified.Methods: Infacort is a newly-developed immediate release formulation of hydrocortisone that is provided in appropriate unit dosage units (0.5, 1, 2,...

Introduction: We report a case with primary adrenocortical deficiency after the first month of lactation.Case report: Thirty-year-old woman was referred with complaints including dizziness, weakness and fatigue in the early postpartum and lactation period. On physical examination, weight 63 kg, height 164 cm, blood pressure 100/65 mmHg, pulse 96 per min were detected. She had the increase of the brown pigmentation on her hands and face. In the a...

Introduction: Acute ischaemic stroke is a stressful condition in which there is marked increase in the production of cortisol. In the past adrenal insufficiency in critically ill patients had been shown to be associated with significant morbidity and mortality. To date there is no study performed to determine its prevalence among patients with acute ischaemic stroke.Objectives: The aim of this study is to determine the prevalence of relative adrenal insu...

Background: Conventional glucocorticoid replacement therapy in patients with Addison’s disease (AD) is unphysiological with possible adverse effects on mortality, morbidity and quality of life. Physiological amounts of glucocorticoids are required for normal GH production and release and a chronically raised cortisol level, suppresses the secretion of GH with possible metabolic and cardiovascular consequences. The diurnal cortisol profile can likely be restored by continu...

Introduction: Adrenal crisis is a potentially life-threatening complication in primary adrenal failure. Our objective was to investigate the frequency of adrenal crises in patients with autoimmune Addison’s disease (AD) in the Techniker Krankenkasse (TK), one of the largest German Health Insurance providers, that covers more than 10% of the German population.Design: The Statutory Health Insurance (SHI) database of the TK was analysed for diagnostic ...

Objective: We aimed to assess the prevalence of glucocorticoid-induced adrenal insufficiency in prednisolone treated patients, and its relation to glucocorticoid dose and duration of treatment.Subjects and measures: As part of a larger study 48 patients with rheumatoid arthritis (33 women, aged 34–85 years) treated with a mean prednisolone dose of 7.0 mg (range 5–20 mg) per day, and a mean duration of treatment of 95 months (range: 6–360 m...

Introduction: While, both quality and accessibility to novel imaging technics rises, we observe a surge in detection of adrenal masses. Those tumors are accidentally found in ~ 0.4% of ultrasonographies and in 4% of computed tomography scans (CT) conducted due to other indications. In spite of high prevalence of those lesions approach to their diagnosis, follow-up and treatment is still controversial. High financial costs and possible adverse effect on health connected with th...

The cardiovascular outcome of targeted treatment of primary aldosteronism (PA) has not been prospectively studied in large cohorts. Using the data of the prospective German Conn’s registry we evaluated the effect of adrenalectomy (ADX) vs mineralocorticoid-receptor-antagonists (MRA) treatment on blood pressure (BP), serum potassium, eGFR, pro-BNP, number and WHO DDD of antihypertensive drugs. Since 2008, 181 patients have been newly diagnosed with PA and underwent subtype...

Familial glucocorticoid deficiency (FGD) results from the inability of the adrenal cortex to produce cortisol in response to ACTH stimulation and can be fatal if unrecognised. The disease manifests clinically with increased ACTH and reduced cortisol levels. Our group has recently demonstrated that oxidative stress is implicated in the pathogenesis of this disorder.We previously identified mutations in nicotinamide nucleotide transhydrogenase (NNT) in pat...

Introduction: Previous qualitative studies have explored perceptions of medication among patients with adrenal insufficiency (AI) as possible determinants of treatment satisfaction. This study is the first to quantify patients’ perceptions of AI medication (necessity beliefs and concerns) and their satisfaction with information and to assess whether medication beliefs and satisfaction are related to adherence.Methods: Validated questionnaires were u...

Background: Data examining HLA associations in Addison’s disease (AD) from South Africa (SA) are limited. We wished to determine the HLA in South African AD patients either positive or negative for 21 hydroxylase autoantibodies (21 OH-AA) and matched healthy controls, hypothesising that certain HLA alleles could predominate, but there may be differences from Western countries.Methods: SA patients (n=73) were enrolled as part of a nationwide...

Cyclic Cushing’s syndrome is a rare, probably under-reported disorder, characterized by repeated episodes of cortisol excess interspersed by periods of normal cortisol secretion, due to both ACTH-dependent and independent causes, and should be discerned from mild or subclinical Cushing’s syndrome and pseudo-Cushing’s states.We present a female patient 52 years old, with cyclic hypercortisolism clinically manifested and biologically confirm...

Introduction: Endogenous Cushing’s syndrome (CS) results from chronic excessive cortisol secretion. Discovering the source of disease is very important, but non-invasive tests cannot always be enough at the determination of correct location. We need more novel markers for distinguishing adrenal Cushing (AC) and pituitary Cushing (CD). We conducted this study for evaluating usefullness of preoperative DHEA-S levels at differentiating AC and CD.Materi...

Introduction: Current understanding about the frequency of adrenal crisis in patients with adrenal insufficiency (AI) relies exclusively on retrospective data (~6.3 adrenal crisis per 100 patient-years). In addition, no data are available about the frequency of intercurrent illness events in AI patients. For the first time we prospectively used a patient’s diary in recording events of adrenal crisis and intercurrent illness in AI patients.Design: Th...

Introduction: Patients with primary adrenal insufficiency (PAI) and patients with congenital adrenal hyperplasia (CAH) receive glucocorticoid replacement therapy, which might cause osteoporosis.Objective: i) Is bone mineral density (BMD) depending on the height of the daily glucocorticoid dose? ii) Is BMD decreasing over a 2-year period of glucocorticoid replacement therapy?Methods: Prospective, longitudinal study including 56 pati...

A 51-year-old obese lady was admitted with multiple cerebral, pulmonary and intra-abdominal abscesses. She was referred to the endocrine team because of newly-diagnosed type 2 diabetes mellitus. The combination of apparent immunosuppression, obesity, diabetes mellitus, hypertension, hypokalaemia, osteoporotic fractures and bilateral shoulder avascular necrosis (BSAN) led to a clinical diagnosis of Cushing’s syndrome (CS); this was biochemically confirmed as follows: non-s...

Context: Late-night salivary cortisol (LNSC) measurement has been promoted as an ideal screening test for the diagnosis of Cushing’s syndrome (CS). However, its performance using commercially available assays has not been widely evaluated and limited data are available on its use in population with chronic medical conditions.Aim: To compare the diagnostic performance of LNSC (routine use) in patients with CS and in a patients’s group with diffe...

Introduction: The relationship between food intake and hypothalamic–pituitary–adrenal (HPA) axis has been studied in the development of visceral adiposity and obesity. The HPA axis may interact with the reward system, thus influencing food choices. On the other hand, it has been shown that macronutrients differently modulate the HPA axis activity.The aim of this study was to evaluate the dietary habits in subjects with adrenal masses (adenoma o...

Background and aim: Incidentally discovered adrenal masses (adrenal incidentalomas (AI)), generally 1 cm or more in diameter, are mostly benign and asymptomatic and are often considered as nonfunctional tumors. The aim of this study was to perform the imaging characteristics, endocrinologic screening and histologic diagnoses of adrenal incidentaloma cases encountered in our institute.Methods: This retrospective evaluation of patients with AI includes 543...

Objective: Recent guidelines promote adrenal venous sampling (AVS) as the reference test to document lateralised aldosterone hypersecretion in primary aldosteronism (PA). However, there are wide discrepancies between institutions in the criteria used. Our objective was to evaluate their consequences on the interpretation of AVS results.Design and methods: All 506 AVS performed from 01/2001 to 03/2009 in our institution were included. Results were interpr...

The pathophysiology of aldosterone-producing adenomas (APA), especially those manifesting clinically overt hyperaldosteronism despite their small size, remains unknown. Therefore, we examined the correlation between tumor size and the status of intratumoral steroidogenic enzymes involved in aldosterone biosynthesis using immunohistochemistry. Forty patients with surgically proven APAs following adrenal venous sampling were retrospectively studied. The tumor area at the maximum...

Introduction and objectives: The localization of primary hyperaldosteronism is often difficult. The coexistence of nonfunctioning adenomas is common in patients older 40 years old and small adenomas undetectable by CT could confuse with bilateral hyperplasia. The AVS is considered the ‘gold standard’ test for the location of numerous guides. We describe our experience in a clinical case of primary aldosteronism.Clinical case: We present a 58 ye...

Background: Endogenous Cushing’s syndrome (CS) comprises the symptoms and signs associated with prolonged exposition to inappropriately high levels of glucocorticoids produced by adrenal cortex. Epidemiological studies reported an incidence of 0.7–2.4 cases per 1 million inhabitants per year. Late-night salivary cortisol (LNSC) is one of three currently recommended initial screening tests for CS. The advantages of LNSC are nonivasive specimen collection and minimal i...

Background: The adrenal incidentalomas (AI), adrenal masses ≥10 mm in diameter incidentally detected, have increased their prevalence due to technological advances in imaging. The adrenalectomy is indicated in functioning adrenal tumors and in cases suspected of malignancy.Objectives: To analyze the characteristics of patients with AI and to evaluate the clinical outcome, in terms of evolution toward hypersecretion and significant growth, during fo...

Objectives: Glucocorticoids (GCs) intervene in different physiological activities in almost all systems of the human organism. However, GCs are also potent inducers of apoptosis in many cell types and tissues. It is known, that glucocorticoid-induced apoptosis affects the musculoskeletal system, circulatory system, nervous system, endocrine system, reproductive system, and the immune system. Nevertheless, the exact mechanisms of GCs action in human normal hematopoiesis are sti...

Introduction: Data concerning patients with adrenal insufficiency (AI) have been limited by small numbers of patients reflecting the relatively low prevalence of this disease. The European Adrenal Insufficiency Registry (EU-AIR) is a multicenter observational study of patients with both primary and secondary AI. Enrollment commenced August 2012. Comprehensive demographic data, aetiology of AI, and details of glucocorticoid replacement therapy are collected at baseline. Safety ...

Introduction: Takotsubo cardiomyopathy or stress-induced cardiomyopathy (SICM) is a rare condition. Even more rare cases associated with glucocorticoid deficiency have been described.Case report: AAGM, a 74-year-old man was admitted to the inpatient Endocrine Department because of suspected panhypopituitarism. Six months before the diagnosis of SICM was established after an acute coronary syndrome episode with no lesions found in coronary angiography and...