Endocrine Syndrome Research Articles

Prevalence of Erectile Dysfunction among Type-2 Diabetes Mellitus & Availability of Treatment Options in Pakistan

Introduction Erectile dysfunction has been defined as failure to obtain and maintain an erection sufficient for sexual intercourse or decreased erectile turgidity on 75% of sexual occasions, lasting for at least six months. Estimates of the prevalence of erectile dysfunction (ED) in men with diabetes range from 20% to 85% [1]. Type 2 Diabetes patients have a high risk of sexual dysfunction in men; three times increased risk of ED was seen in diabetic compared with nondiabetic men. There are multiple risk factors which include, obesity, age-related hormonal changes metabolic syndrome in young patients, it is associated with a greater increase in the risk of future cardiac events as compared to its first detection in older males. Aim The aim of the study is to determine the relative prevalence of Erectile Dysfunction in the Pakistani population attending diabetes with help of the SHIMS score/IELTS. To establish further management of this commonly under-recognized, under-discussed, and commonly untreated complication of diabetes. But it is also one of the most treatable diabetic complications. It is a “couple’s disorder,” affecting both the patient and his partner. In Pakistan, there is not much evidence & options for treatment are not ideally available inclusive of the availability of PD5 drugs. Methodology Male patients with diabetes mellitus having poor glycemic control, hypertension, and hyperlipidemia with or without active complaint of Erectile Dysfunction attending The Diabetes Centre (TDC) during the study period were enrolled in the study. 319 males with diabetes were examined by the Diabetologist, endocrinologist, and clinical psychologist. Patients were surveyed using the five items version of the International Index of Erectile Dysfunction questionnaire, also known as the Sexual Health Inventory of Men (SHIM) to determine the presence and severity of ED and the efficacy of ED treatment conditions. Discussion and Results In the study, a total of 319 diabetic patients were enrolled and assessed/examined. Those with severe ED were found to have poor glycemic control, abnormal lipid profile, with BMI. 19%, 15%, and 31% of patients scored as severe, moderate, and mild to moderate ED respectively; 65% were scored as suffering in ED, whereas 20% of diabetic male patients have a higher proclivity of developing server ED. Male patients with poor glycemic control & hyperlipidemia were suffering from severe erectile dysfunction. Conclusion The accumulated percentage of diabetic male patients who have signs of ED is higher therefore the prevalence of ED is too high in diabetic male patients. In addition, there are no appropriate management options like the availability of safe drugs and treatment in Pakistan.

Chronic kidney disease and its risk stratification in Cuba

Introduction: Epidemiological risk stratification in health is a tool effective in identifying where the main problems lie in a program health, to distribute resources where they are most needed. kidney disease chronic is a metabolic endocrine syndrome, brings disability to people whosuffer, has become one of the main causes of death in the world, in our country has seen an increase in the last ten years. Objective: Stratify mortality with CKD in Cuba and characterize some sociovariables demographics from 2011-2020.Method: The universe consisted of 35031 deceased with CKD in Cuba, percentages, crude, specific and specific rates were calculated. standardized by age, sex, causes of death, by province of residence and color of the skin. The stratification by provinces was classified as very high risk, high risk, medium and low risk. Results: There was a total of 35031 deaths, the risk of die older in men, older adults with black skin color. The main cause of death hypertensive kidney disease. The standardized rates showed slow and sustained increase in all provinces. Very high risk provincesArtemisa (22.15), Cienfuegos (19.36) and the Isla de la Juventud Special Municipality (18.72).Conclusions: Risk stratification presented differences in the country, the main cause of death was hypertensive kidney disease, older adults have higher risk of dying, although it is important to pay attention to the group that includes working age.

The Kathmandu Declaration – Obesity in the south Asian region: An exigency statement

BackgroundThe South Asian Region shoulders more than its fair share of health-related challenges. While we continue to tackle acute and communicable illness, newer challenges and concerns have emerged. These include the rapidly increasing metabolic and endocrine syndromes such as diabetes, dyslipidemia and obesity. MethodsIn the past, SAFES has released the Dhaka Declaration (2015) on gestational diabetes mellitus, and the Colombo Declaration (2019) on prevention of diabetes. The authors from 8 countries have together drafted and agreed this declaration to improve healthcare delivery for the recognition and management of obesity in the region. ResultsIn this Kathmandu declaration we highlight the urgent need for recognition, evaluation and prevention of obesity in this region. It has described not only the need but also the methods to improve obesity outcomes in the region through advocacy, awareness and addressal. ConclusionThrough its member associations, South Asian Federation of Endocrine Societies (SAFES) works to ensure optimal endocrine health care delivery in South Asia and has worked on the Kathmandu Declaration to improve the obesity pandemic in the region.

Abnormal Laboratory Values for Metabolic and Hormonal Syndromes Are Prevalent Among Patients Undergoing Rotator Cuff Repair

To determine the prevalence of systemic laboratory abnormalities among patients undergoing rotator cuff repair (RCR). Patients who underwent RCR at the authors' institution for 1 year between October 2021 to September 2022 were retrospectively identified. Preoperative laboratory values, including serum sex hormones, vitamin D, hemoglobin A1C, and a lipid panel, were obtained as part of our routine practice during the study period. Demographics and tear characteristics were compared in patients with laboratory data and those without. For included patients with laboratory data, mean laboratory values and percentage of patients with abnormal laboratory values were recorded. During a 1-year period of time, 135 RCRs were performed, of which preoperative labs were obtained on 105. Of these, 67% were sex hormone deficient, 36% were vitamin D deficient, 45% had an abnormal hemoglobin A1C, and 64% had an abnormal lipid panel. In total 4% had "normal" labs. In this retrospective study, sex hormone deficiency is highly prevalent among patients undergoing RCR. Nearly all patients undergoing RCR have systemic laboratory abnormalities involving either sex hormone deficiency, vitamin D deficiency, dyslipidemia, and/or prediabetes. Level IV, prognostic case series.

AORTIC ELASTICITY AS THE TOOL FOR CARDIOVASCULAR RISK STRATIFICATION IN PATIENTS WITH HYPERTHYROIDISM

Hyperthyroidism is an endocrine syndrome, which has been identified as an important cardiovascular risk factor. Excess thyroid hormone may lead to increased cardiac contractility, raised heart rate, and decreased systemic vascular resistance (Yamakawa et al., 2021). Such hemodynamic alterations predispose patients to rhythm disturbances, primary atrial fibrillation, and heart failure, which can result in fatal events (Cappola et al., 2019). This emphasizes the importance of early diagnosis and treatment of cardiac disturbances secondary to hyperthyroidism.

New biomarkers for diagnosis of polycystic ovary syndrome

Background and aim The popular endocrine syndrome happening in women of reproductive age is polycystic ovary syndrome (PCOS). It is long understood that chronic ovaries with many tiny cysts, hyper vascularized androgen-secreting stroma, signs of extra androgen, and menstrual cycle irregularity are all related. The aim was to compare several biochemical measures in women with PCOS and age-matched control for a definite diagnosis of PCOS by using by using anti-müllerian hormone (AMH), sex hormone binding globulin (SHBG), total testosterone, serum insulin and lipid profile. Patients and methods Case-control research had been performed for patients who were admitted to El-Hussein University Hospital and EI-Minia University Hospital, Department of Obstetrics and Gynecology. The study included two matched groups: group (1) involved 40 eligible women sonographically evaluated and biochemically diagnosed with PCOS (cases group). Group (2): equal number of normal women 40 in a ratio of 1 : 1 had been chosen in the (control group). Results Mean value of triglycerides, low-density lipoprotein (LDL), total cholesterol, and very LDL had been greater between the cases group than the control one although there had been no variation among cases and controls regarding high density lipoprotein (HDL). Mean value of serum insulin and homeostasis model assessment-estimated insulin resistance (HOMA-IR) had been greater between cases group than the control. Conclusion This research confirms that obese women having PCOS have atherogenic lipoprotein profiles that are marked by elevated levels of cholesterol, LDL, and triglycerides and could be a danger point for later leading to cardiovascular complications.

Tumeurs neuroendocrines digestives bien différenciées: focus sur les tumeurs pancréatiques

Pancreatic neuroendocrine tumors are rare tumors showing a rising incidence. They are well-differentiated tumors, classified by grade according to their Ki67 index value (grade 1 to 3). Pancreatic neuroendocrine tumors are mainly sporadic tumors but about 10% arise within endocrine tumor syndromes such as multiple endocrine neoplasia type 1. They can be responsible for functional syndromes or non-specific clinical symptoms depending on tumor extension. However, there is also an increase of incidental diagnoses of nonfunctional pancreatic neuroendocrine tumors with the widespread use of high-quality imaging techniques. About 50% of pancreatic neuroendocrine tumors are diagnosed at a metastatic stage, with metastases often located in the liver. Chromogranin A, CT-scan and often an abdominal MRI, and functional imaging should be performed for tumor staging and follow-up. Imaging with PET/CT with68Ga-labeled somatostatin analogues has the highest sensitivity for the diagnosis of pancreatic neuroendocrine tumors, while 18fluorodeoxyglucose PET/CT can sometimes be useful. Overall, they are rather indolent tumors with prolonged survival. Surgery is the recommended treatment in the localized setting, with the exception of small<2cm nonfunctional tumors that can be monitored with imaging techniques. For advanced tumors, there are several available treatments such as somatostatine analogues, chemotherapy, targeted therapies (sunitinib, everolimus), locoregional ablative therapies and Peptide Receptor Radiolabelled Therapy. The treatment strategy will depend on the initial tumor staging, tumor grade, aggressiveness and patient's choice.

Vitamin D levels in seven non-identical occupational groups entail redefining of existing vitamin D deficiency diagnostic cut off level for native Bangladeshi population

Background and objectives: Recent publications have reported alarming prevalence of hypovitaminosis D in South Asian countries including Bangladesh. But, data on vitamin D levels in different occupational groups are lacking. This study addressed the prevalence of hypovitaminosis D in different occupational groups of Bangladesh. Additionally, the study estimated parathyroid hormone, phosphate, calcium and metabolic syndrome in these groups to see the effect of hypovitaminosis D on these parameters. Materials and method: Seven diverse occupational groups (agrarian workers, rickshaw-pullers, young cricketers and footballers, fishermen, dry fish industry workers, garment-workers and medical students) of Bangladesh were selected based on grade of physical activity and level of sun exposure. Blood was collected for the estimation of 25(OH) vitamin D, fasting glucose,lipid profiles, calcium, phosphate, magnesium and intact parathyroid (iPTH) hormone. Multiple comparisons of these variables among the 7 groups were estimated by ANOVA. Results: A total of 785 (m / f = 359 / 426) participants volunteered. Of them, 54.2% had vitamin D deficiency. Metabolic syndrome was 5% and showed no significant association with hypovitaminosis D (x2 = 0.9, p=0.43). For biophysical characteristics, the mean (±SD) values of age, body mass index, waist to hip ratio and waist to height ratio were – 33.8±16.3y, 22.3±4.1 kg/m2, 0.87±0.06 and 0.39±0.16, respectively. The values for vitamin D (ng/ml), calcium (mg/dl), iPTH (pgm/ml) and phosphate (mg/dl) were 20.25±13.1, 9.57±1.85, 38.22±24.54 and 4.18±0.81, respectively. The comparisons of vitamin D and other related variables among the groups (ANOVA) showed vitamin D level in the garments worker was significantly (p&lt;0.01) higher from other 6 groups. Likewise, compared with other six, rickshaw-pullers had significantly higher calcium level. Calcium, phosphate and parathyroid hormone did not show any change with decreasing vitamin D level (high to low quartile: Q4→Q1), though parathyroid hormone increased significantly at the lowest vitamin D level (Q1:&lt;11.8ng/ml: p=0.002). Conclusion: The prevalence of hypovitaminosis D was high irrespective of occupations, site (rural/urban), social class and sun-exposure. Overall, vitamin D level was low though varied among the groups. Despite minimum and maximum sun-exposure, the garments workers had the highest and the fishermen had the lowest vitamin D levels, respectively. Calcium level was normal in all groups. Calcium, phosphate and parathyroid hormone did not show any changes with decreasing vitamin D, though parathyroid hormone increased significantly when vitamin D decreased to the lowest quartile. The findings indicate that the specific cut off value for vitamin D deficiency needs to be determined for population of a given geographic area. IMC J Med Sci. 2023; 17(2):001. DOI: https://doi.org/10.55010/imcjms.17.011 *Correspondence: M Abu Sayeed, Department of Community Medicine, Ibrahim Medical College, 1/A, Ibrahim Sarani, Segunbagicha, Dhaka 1000, Bangladesh. Email: sayeed1950@gmail.com

Ectopic lipid metabolism in anterior pituitary dysfunction.

Over the past decades, adapted lifestyle and dietary habits in industrialized countries have led to a progress of obesity and associated metabolic disorders. Concomitant insulin resistance and derangements in lipid metabolism foster the deposition of excess lipids in organs and tissues with limited capacity of physiologic lipid storage. In organs pivotal for systemic metabolic homeostasis, this ectopic lipid content disturbs metabolic action, thereby promotes the progression of metabolic disease, and inherits a risk for cardiometabolic complications. Pituitary hormone syndromes are commonly associated with metabolic diseases. However, the impact on subcutaneous, visceral, and ectopic fat stores between disorders and their underlying hormonal axes is rather different, and the underlying pathophysiological pathways remain largely unknown. Pituitary disorders might influence ectopic lipid deposition indirectly by modulating lipid metabolism and insulin sensitivity, but also directly by organ specific hormonal effects on energy metabolism. In this review, we aim to I) provide information about the impact of pituitary disorders on ectopic fat stores, II) and to present up-to-date knowledge on potential pathophysiological mechanisms of hormone action in ectopic lipid metabolism.

Ectopic adrenocorticotrophic hormone syndrome secondary to treatment-related neuroendocrine differentiation of metastatic castrate-resistant prostate cancer.

A 64-year-old man with progressive metastatic castrate-resistant prostate adenocarcinoma presented with recurrent fluid overload, severe hypokalaemia with metabolic alkalosis and loss of glycaemic control. Clinical features were facial plethora, skin bruising and proximal myopathy. Plasma adrenocorticotrophic hormone (ACTH), serum cortisol and 24-h urinary cortisol levels were elevated. Low-dose dexamethasone failed to suppress cortisol. Pituitary MRI was normal and 68Gallium-DOTATATE PET-CT scan showed only features of metastatic prostate cancer. He was diagnosed with ectopic ACTH syndrome secondary to treatment-related neuroendocrine prostate cancer differentiation. Medical management was limited by clinical deterioration, accessibility of medications and cancer progression. Ketoconazole and cabergoline were utilised, but cortisol remained uncontrolled. He succumbed 5 months following diagnosis. Treatment-related neuroendocrine differentiation of prostate adenocarcinoma is a rare cause of ectopic ACTH syndrome. Neuroendocrine differentiation following prostate adenocarcinoma treatment with androgen deprivation has been described. Ectopic adrenocorticotrophic hormone (ACTH) syndrome should be considered where patients with metastatic prostate cancer develop acute electrolyte disturbance or fluid overload. Ketoconazole interferes with adrenal and gonadal steroidogenesis and can be used in ectopic ACTH syndrome, but the impact may be insufficient. Inhibition of gonadal steroidogenesis is favourable in prostate cancer. More data are required to evaluate the use of cabergoline in ectopic ACTH syndrome. Ectopic ACTH syndrome requires prompt management and is challenging in the face of metastatic cancer.

Paraneoplastic autoimmune hypophysitis: a novel form of paraneoplastic endocrine syndrome.

Paraneoplastic syndromes are defined by symptoms or signs resulting from damage to organs or tissues that are remote from the site of malignant neoplasms or its metastasis. They are due to tumor secretion of functional hormones or peptides or are related to immune cross-reactivity with the host tissue. In particular, paraneoplastic endocrine syndromes are mainly caused by ectopic hormone production by the tumor such as PTHrP in humoral hypercalcemia in malignancy and ACTH in ectopic ACTH syndrome. Recently, it has been reported that a specific form of hypophysitis is caused as an immune-mediated paraneoplastic syndrome; paraneoplastic autoimmune hypophysitis, in which an ectopic pituitary antigen expression in the tumor evoked autoimmunity against pituitary-specific antigens, resulting in hypophysitis and exhibiting the injury of specific anterior pituitary cells by cytotoxic T cells. This novel clinical entity, paraneoplastic autoimmune hypophysitis consists of several conditions such as anti-PIT-1 hypophysitis and a part of isolated ACTH deficiency and immune checkpoint inhibitor-related hypophysitis with common mechanisms. These conditions can explain at least in part, the underlying mechanisms of acquired specific pituitary hormone deficiencies. In addition, it is important to apply a comprehensive discipline of onco-immuno-endocrinology to understand the pathophysiology and this approach; the expansion and application of immune-mediated paraneoplastic syndrome to endocrine diseases may give a new clue to understand pathophysiology of the autoimmunity against endocrine organs.

Oxidant and antioxidant status of erythrocytes and plasma samples in polycystic ovary syndrome patients

Polycystic ovary syndrome (PCOS) is one of the most common types of endocrine syndromes in women, where the disease is described as chronic anovulation and hyperandrogenism, which characterized by the formation of small cysts (fluid-filled sacs) in the ovaries. This study was carried out to introduce knowledge when plasma and erythrocytes portions were chosen to compare the antioxidant and oxidant status of PCOS patients treated and without treatment with Metformin. Samples were included 75 women diagnostics with PCOS according to Rotterdam criteria. The control group included healthy volunteers with regular menstrual cycles and with no symptoms of hyperandrogenism. Total Antioxidants Capacity (TAC), total Oxidant Status (TOS), and CuZn SOD enzyme activity were examined in both plasma and erythrocytes. The activity of the CuZn SOD enzyme was determined based on the ability of the enzyme to inhibit the autoxidation of pyrogallol. TAC values were significantly decreased in PCOS patients and the content in plasma was significantly higher than in Erythrocytes. On the other hand, the TOS values were in the opposite pattern, they were significantly increased in patients and higher in erythrocytes than plasma. The activity of superoxide dismutase was significantly higher in patients’ samples than in controls. This enzyme displayed higher activity values in samples from erythrocytes than the plasma and the highest activity was 61.9±3 U/ml. As the data for both TOS and SOD1 activity introduces the same pattern in blood samples, TAC values introduce a different line of responses. In considering Metformin’s effect on previous criteria, this drug significantly decreased the TAC, TOS and SOD1, activity group. as this drug is responsible for the reduction of circulating insulin and increasing the glucose uptake by peripheral tissues

Hirsutism: A homoeopathic Approach

Hirsutism is a condition in women that results in excessive growth of dark and coarse hair in a male-like pattern. This is a very common problem faced by many women in day-to-day life. Hirsutism often arises from excess male hormones, especially testosterone. Treatment for this condition includes correcting the underlying hormonal disorder. Although many people opt for harmful therapies like laser, and electrolysis which cause deterioration of health. As our master Hahnemann said treatment based on external application is called suppression. With homoeopathy, we can reduce the tendency to develop Hirsutism. Homoeopathic medicines are very effective in chronic hormonal syndrome in an individual where hormone-related treatment or surgery is otherwise advised.

Patients with ectopic ACTH syndrome might have a better prognosis in bronchopulmonary carcinoids with lymph node metastasis received radical surgery: a single-centre retrospective study in the last 22 years in China

BackgroundBronchopulmonary carcinoids (BPCs) are rare malignancies but are known to be one of the most common causes of the ectopic adrenocorticotropic hormone (ACTH) syndrome. Surgery is the mainstay of therapy and one key question considering surgical treatment is the impact of local lymph node metastases. We sought to determine the risk factors and prognosis of LN metastases in resected carcinoid patients.MethodsData of 42 patients of BPCs with lymph node metastasis who received radical surgery in Peking Union Medical College Hospital (PUMCH) from Jan 2000 to Dec 2021 were retrospectively analysed. Overall survival (OS) and progression-free survival (PFS) were analyzed using Kaplan–Meier curves. Independent prognostic factors were assessed by COX hazard proportion model.ResultsIt was indicated that in patients received radical surgery with local lymph node positive of BPCs, the 5-year OS and PFS rate was 74.5%, 68.3%, respectively. Multivariate Cox regression indicated that ectopic ACTH syndrome (EAS) could predict significantly to a better OS and PFS. In the subgroup analysis, the age, tumor size, Ki-67 index, histology and postoperative chemotherapy in patients with EAS had significantly differences with those without EAS.ConclusionsOur study certified R0 resection with lymphadenectomy was effective in patients with lymph nodal positive. The ectopic ACTH syndrome was a protective factor for a better prognosis, which could provide clear evidence for operations.

LBODP010 A Case of Glucocorticoid Resistance Syndrome

Abstract Case presentation A 55 yr old female presented with persistent mild elevation of cortisol for the previous 7 years. Four years prior to presentation, she was incidentally noted to have a small left sided adrenal nodule on CT scan of the abdomen. Biochemical evaluation of the nodule showed 24 hour urine cortisol of 176(0-50), morning cortisol of 36 ug/dl(6.2-19.4), ACTH 18 pg/ml(7.3-66.3), two out of three salivary samples with elevated cortisol. High dose dexamethasone suppressed ACTH to &amp;lt;1.1 from 13.8, cortisol from 30 to 3.3. She did not have signs and symptoms of Cushing's syndrome, mineralocorticoid excess nor androgen excess. Serum testosterone and DHEA were normal. DEXA revealed normal bone density. MRI brain demonstrated normal pituitary . She had no family history of pituitary or adrenal tumors nor endocrine syndromes. She underwent laparoscopic left adrenalectomy with pathology demonstrating benign adrenal adenoma, although the pathologist was unable to exclude nodular hyperplasia due to fragmented specimen. Elevation of 24 hour urine cortisol, serum cortisol and ACTH have persisted after surgery, without any clinical features of Cushing's. Gene sequencing with copy number analysis revealed heterozygous variant in the NR3C1 gene c.2239A&amp;gt;T(p. Ile747Phe), suspicious for autosomal dominant hereditary primary glucocorticoid resistance syndrome also known as Chrousos syndrome. Discussion Glucocorticoid resistance syndrome is rare, may be familial or sporadic, and is characterized by end organ insensitivity to glucocorticoids. Glucocorticoids are steroid hormones synthesized and secreted by adrenal cortex. The actions of glucocorticoids are mediated by the glucocorticoid receptor, which belongs to nuclear receptor family of ligand-dependent transcription factors. Affected individuals have elevations in circulating cortisol and ACTH, but no clinical evidence of hypercortisolism. Excess ACTH can result in increased mineralocorticoid and/or androgenic activity resulting in HTN and/or hypokalemic alkalosis and acne/hirsutism/infertility/male pattern hair loss. Asymptomatic, normotensive patients with primary glucocorticoid resistance do not require any treatment. Aim of treatment is to suppress excess ACTH to decrease mineralocorticoid and androgen effects. Treatment involves high doses of dexamethasone(1-3 mg/day), which activate the mutated and/or wild type hGR alpha and suppresses endogenous secretion of ACTH. Conclusion Mutations in human GR gene impair one or more molecular mechanisms of glucocorticoid action affecting signal transduction and altering tissue sensitivity to these hormones. Recognition of this condition avoids unnecessary adrenal surgery and informs appropriate treatment and long term follow up of patients and family members. Presentation: No date and time listed

LBODP106 Multi-omics Analyses Of MEN1 Missense Mutations Identify Disruption Of Menin-MLL And Menin-JunD Interactions As Critical Requirements For Molecular Pathogenicity

Abstract Loss-of-function mutations of the multiple endocrine neoplasia type 1 (MEN1) gene are causal to the MEN1 endocrine tumor syndrome, but they are also commonly found in sporadic pancreatic neuroendocrine tumors and other types of cancers. The MEN1 gene product, menin, is involved in transcriptional and chromatin regulation, most prominently as an integral component of KMT2A/MLL1 and KMT2B/MLL2 containing COMPASS-like histone H3K4 methyltransferase complexes. In a mutually exclusive fashion, menin also interacts with the JunD subunit of the AP-1 and ATF/CREB transcription factors. After in silico screening of 253 disease-related MEN1 missense mutations, we selected a set of nine menin mutations in surface-exposed residues. The protein interactomes of these mutants were assessed by quantitative mass spectrometry, which indicated that seven of the nine mutants disrupt interactions with both MLL1/2 and JunD complexes. Interestingly, we identified three missense mutations, R52G, E255K and E359K, which predominantly reduce the interaction with MLL1 compared to JunD. This observation was supported by a pronounced loss of binding of the R52G, E255K and E359K mutant proteins at unique MLL1 genomic binding sites with less effect on unique JunD sites. These findings support the general importance of the menin-MLL1 and menin-JunD interactions in MEN1 gene-associated pathogenic conditions. Presentation: No date and time listed

Necrolytic migratory erythema as a cutaneous manifestation of a pancreatic neuroendocrine tumor.

Glucagonoma syndrome is a rare entity defined by the existence of necrolytic migratory erythema (NME), elevated serum glucagon levels, and an underlying alpha-cell secreting tumor of the pancreas [ [1] John A.M. Schwartz R.A. Glucagonoma syndrome: a review and update on treatment. J Eur Acad Dermatology Venereol. 2016; 30: 2016-2022 Crossref PubMed Scopus (42) Google Scholar ]. We present the case of a female with clinical manifestations of this syndrome. In this paper, we describe the case of a 38-year-old woman referred to the dermatology department to investigate pruritic lesions located on the lower extremity, with subsequent extension to the axillae, groin, and intergluteal region, and pubis (Fig. 1). After several attempts, a skin biopsy specimen revealed histopathologic features suggestive of NME. Further evaluations revealed the presence of 8 centimeters nonmetastatic glucagonoma, located at the tail of the pancreas. 68Ga-DOTA TOC and an 18F-FDG PET identified a mild uptake of the lesion (Fig. 1). The glucagon level was >500 pg/mL. The patient was diagnosed with glucagonoma syndrome, and a caudal pancreatectomy was subsequently performed. Microscopy and the immunohistochemical study were consistent with a glucagonoma (Fig. 2). After surgery, the cutaneous manifestation was resolved, with normalization of glucagon levels. This uncommon case report adds information about an infrequent neuroendocrine tumor with cutaneous expression. Early recognition and diagnosis must support by radiological and nuclear medicine imaging tests [ [2] Jensen R.T. Cadiot G. Brandi M.L. et al. ENETS Consensus Guidelines for the management of patients with digestive neuroendocrine neoplasms: functional pancreatic endocrine tumor syndromes. Neuroendocrinology. 2012; 95: 98 Crossref PubMed Scopus (371) Google Scholar ]. Surgery is the initial treatment of choice. Fig. 2Skin biopsy revealing irregular acanthosis of the epidermis with loss of the stratum granulosum and edema of the superficial portion of the epidermis (A). Hematic extravasation and presence of abundant focal polynuclear cells alternating with areas of parakeratosis (B). Histological study reveals a nodular tumor of 8 × 4.5 × 3.5 cm, located in the tail of the pancreas with an intact capsular surface surrounded by adipose tissue (C). In the sections performed, a proliferation of neuroendocrine cells is identified, growing in an anastomosing, gyriform, pseudorosette trabecular pattern (D). Cells with ample eosinophilic cytoplasm and enlarged nuclei with central macronucleolus. Two mitoses are identified in 42 high magnification fields corresponding to less than one mitosis per 2 mm2 (E). Cells show intense positivity for chromogranin (F) and glucagon (G). View Large Image Figure Viewer Download Hi-res image

The utility value of genetic testing in endocrine syndromes

The utility value of genetic testing in endocrine syndromes

Gene-specific application of computational prediction tools aids the classification of rare missense variants in the diagnosis of hereditary endocrine tumour syndromes

Gene-specific application of computational prediction tools aids the classification of rare missense variants in the diagnosis of hereditary endocrine tumour syndromes

Visceral Obesity Is Associated with Shorter Progression-Free Survival in Well-Differentiated Gastro-Entero-Pancreatic Neuroendocrine Neoplasia.

The association of well-differentiated gastro-entero-pancreatic neuroendocrine neoplasia (WD GEP-NEN) with metabolic syndrome (MetS), abdominal obesity, and fasting glucose abnormalities was recently described. However, whether obesity and metabolic syndrome risk factors are associated with GEP-NEN adverse outcomes and the poorer prognosis was unknown. The present study aimed to evaluate whether the presence of MetS or any of its individual components at WD GEP-NEN diagnosis influenced disease outcomes. A cohort of patients with non-localized WD GEP-NETs (n = 81), was classified according to the primary tumor site (gastrointestinal or pancreatic), pathological grading (G1 (Ki67 ≤ 2%) and G2 (3% ≤ Ki67 ≤ 20%) (WHO 2010)), disease extension (loco-regional or metastatic disease), presence of hormonal secretion syndrome (functioning or non-functioning), and evaluated for the presence of MetS criteria at diagnosis. MetS was present in 48 (59.3%) patients. During a median follow-up of 95.0 months (16.8–262.5), 18 patients died of the disease (10 with MetS vs. 8 without MetS). Overall survival (OS) at 5 years was 87.1% (95% CI: 73.6–94.0) for MetS and 90.9% (95% CI: 74.4–97.0) for non-Mets group, while OS at 10 years was 72.5% (95% CI: 55.3–84.0) for MetS, and 76.4% (95% CI: 53.6–89.0) for non-MetS group. Progression-Free Survival (PFS) at 5 years was 45.9% (95% CI: 30.8–59.8) for MetS and 40.0% (95% CI: 21.3–58.1) for non-MetS group, and PFS at 10 years was 18.1% (95% CI: 7.0–33.5) for MetS and 24.4% (95% CI: 9.0–43.7) for non-MetS group. Waist circumference (WC), a surrogate measure for visceral obesity, was associated with significantly shorter PFS (HR = 1.03; 95% CI: 1.01–1.06), although did not influence OS (HR = 1.01; 95% CI: 0.97–1.06). The findings of this study reinforce a potential link between visceral obesity and GEP-NEN and further suggest that obesity could influence disease prognosis.