Endocrine Abstracts

Presence of clinical symptoms and signs specific for suspected illness is, in general, a condition sine qua non to start diagnostics procedures. However, some diseases may proceed with various and disparate symptoms, which often suggests completely different diagnosis. One of them is pheochromocytoma – rare, usually benign neoplasm derived from chromaffin cells of adrenal medulla. It is very important to diagnose the disease while it is curable by surgery like ma...

Introduction: Neuroendocrine tumors (NETs) are neoplasms that arise from cells of the endocrine and nervous systems. They most commonly occur in the intestine and are graded histologically according to markers of cellular proliferation. G1 and G2 neuroendocrine neoplasms are called neuroendocrine tumors (NETs) – formerly called carcinoid tumors. G3 neoplasms are called neuroendocrine carcinomas (NECs).Objectives: We present a case of a patient with ...

Background: Neuroendocrine tumors (NETs) of the ampulla of Vater are rare and sometimes difficult to diagnose preoperatively. We report a case of neuroendocrine carcinoma (NEC) of the ampulla of Vater diagnosed by endoscopic biopsy.Case presentation: The patient was a 83-year-old male complaining of jaundice. Endoscopic retrograde cholangiopancreatography (ERCP) was performed. It revealed a protruding tumor in the major papilla with a diameter of 18mm, a...

A 76-year-old female patient has been admitted to various hospitals with complaints of low blood sugar especially in the morning, sweating, fainting, loss of consciousness, have been suspected of insulinoma with the results of the latest examinations made in 2012, but no focus has been detected. With the same complaints, the patient who applied to our out-patient clinic in December 2017 was subjected to an extended hunger test and invested for further research. Previously, the...

Introduction: Pheochromocytomas/paragangliomas are rare neuroendocrine tumors. Although mostly sporadic, about 1/3 of the cases correspond to inherited autosomal dominant syndromes, often associated with germline mutations of the SDHD, SDHC and SDHB genes. The association with the SDHAF2(SDH5) gene has been recently discovered, with only few cases published worldwide, and it presents as a paraganglioma of the head and neck, without previous known description of other locations...

Insulinomas are rare neuroendocrine tumors (NETs) of the pancreas with an incidence of four per 1 million persons per year. The co-existence of diabetes mellitus (DM) and insulinoma is very rare. We report a case of 73 year old women with malignant insulinoma and type 2 DM. A 73 year old woman with type 2 diabetes was referred to our clinic for recurrent and severe hypoglycemia especially in the early morning hours. The patient had a history of type 2 DM for 10 years. Although...

Introduction: Pheochromocytomas are rare catecolamin-secreting neoplasms. The classic triad of symptoms in patients with a pheochromocytoma consists of episodic headache, sweating and tachycardia. Gastrointestinal spectrums have been reported such as chronic constipation, intestinal pseudo-obstruction or even intestinal perforation. We describe patient who presented with non-mechanical bowel obstruction and interestingly hydronephrosis and acute kidney injury as a consequence ...

Pheochromocytoma (PCC) is a rare neuroendocrine tumor, mainly sporadic, many cases are discovered incidentally by computed tomography or magnetic resonance imaging of the abdomen. Malignancy in pheochromocytoma is difficult to diagnose microscopically. Therefore, only the presence of distant metastases, derived from pleomorphic chromaffin cells, is widely accepted as a criterion of malignancy (1)Case presentation: In March 2016, a 43 year old women prese...

Introduction: Malignant insulinoma is a rare functional endocrine tumor of the pancreas. Therefore, there are few data regarding their optimal therapy and long term prognosis. Malignancy is defined by the presence of metastases, mostly in lymph nodes or the liver. Generally these patients present with severe hypoglycemia and require multiple therapies. Here, we described the management of a patient with malignant insulinoma.Case: A 41-year-old woman with...

Introduction: Oncocytic adrenocortical neoplasms (OAN) are very rare tumors and they are usually nonfunctional and benign. Approximately 17% of the adrenal oncocytomas are functional. Their clinical and pathological characteristics are unique. The estimated overall median survival for malignant OANs is more favorable than that of conventional adrenocortical carcinomas.Case report: We present the case of a 79-year-old male who attended consultations for s...

Introduction: Pancreatic neuroendocrine tumors (PNET) are a heterogeneous group with various clinical presentations and lineage. They have an incidence of one per 100 000 individuals per year and represent about 1–2% of all pancreatic tumors. Non functional PNET (NF-PNET) are incidentally discovered in most cases. Pulmonary neuroendocrine tumors constitue a distinct category of tumors with morphologic and biologic neuroendocrine features, they present 20–30% of all N...

Background: Von Hippel Lindau Disease (VHL) is an autosomal dominant inherited syndrome characterized by high susceptibility to the development of a wide spectrum of benign and malignant, endocrine and non-endocrine neoplasias in diverse organs of patients harboring a germline mutation in VHL tumor suppressor gene. The major clinical manifestations of VHL are brain, cerebellar and spinal cord hemangioblastoma, retinal angioma, pheochromocytoma, renal cell carcinoma an...

Introduction: Several treatments may be proposed against neuroendocrine tumors such as targeted therapies (Tyrosine kinase inhibitors: TKI) and somatostatin agonist. Since the first use of TKI in the oncological field, several studies have shown endocrine side effects type dysthyroidie. Several complex pathophysiological mechanisms and variable from one patient to another have been evoked ranging from a simple thyroiditis to complex autoimmune phenomena (cases of Basedow revea...

Purpose: D631Y is a rare mutation associated with MEN2a in which there is an aspartic acid to tyrosine amino acid substitution at codon 631 in exon 11. Common clinical features of this variant of RET mutation are pheochromocytoma in 50%, medullary carcinoma in 30%, primary hyperparathyroidism is very rare. We present the patient harboring RET D631Y mutation.Clinical case: In April 2017 40-year-old woman was admitted to endocrine department of the Almazov...

Introduction: Non-islet cell tumor induced hypoglycemia (NICTH) is a paraneoplastic phenomenon involving many types of tumors. It is associated with the secretion of incompletely processed precursors of IGF-2 resulting in a persistent insulin-like activity and hypoglycemia. Most commonly, IGF-2–linked hypoglycemia has been observed in patients with solid mesenchymal or epithelial tumors. Typically, elevated IGF-2 levels are associated with suppressed plasma levels of insu...

We recently reported the impact of continous s.c. hydrocortisone infusion (CSHI) on weight, patient AddiQoL scores and healthcare cost savings on five patients. This poster is to follow up on all our patients experiences since started on the CSHI as well as qualitative feedback on the impact on their lives.This poster also gathered key points on how these patients managed their adrenal crisis....

Introduction: Ganglioneuromes are benign tumors from neural crest cells, most often located in the posterior mediastinum and retroperitoneum, and are rarely localized in the adrenal gland. We report the case of a patient.Ho was referred to the incidental alert serviceObservation: We report the case of a 45-year-old patient followed by a benign colic sigmoid polypeptide with epigastralgia for which a pelvic abdomino CT scan was requested, demonstrating a ...

Introduction: Cushing’s syndrome adrenal’s origin coul’d be an adenoma, an unilateral carcinoma and rarely a micronodular or macronodular hyperplasia. We report the cases of two patients followed for macronodular adrenal hyperplasia hospitalized in the Ibn Rochd University Hospital, endocrinology department in Casablanca.Case 1: A 60-year-old patient with independent ACTH Cushing Syndrome with clinical and biological signs of hypercorticis...

Introduction: Ganglioneuromas (GN) are rare benign tumors arising from the neural crest tissue and are most commonly located in the posterior mediastinum and retroperitoneum; they are rarely found in the adrenal gland. We report a case of a female patient with adrenal ganglioneuroma.Observation: A 51-year-old female patient with no previous comorbidities was admitted to our hospital. She had no significant past medical or surgical history. She had sympto...

Introduction: Paragangliomas are rare neuroendocrine tumors that arise from the extraadrenal paraganglia. Sympathetic paragangliomas usually secrete catecholamines and are located in the sympathetic paravertebral ganglia of thorax, abdomen and pelvis.Case report: We present a 66 year old patient with an incidentally found retroperitoneal mass on spine MRI. An open biopsy was performed (9/15) with the histological finding of benign paraganglioma (accordin...

Introduction: Von Hippel–Lindau (VHL) disease is a rare disorder, characterized by the development of a variety of benign and malignant tumors. It is autosomal dominantly inherited disease that causes retinal or central nervous system hemangioblastomas, endolymphatic sac tumors, renal cell carcinomas, pancreatic cysts and tumors, pheochromocytoma and epididymal cystadenomas. The condition is associated with inactivation of a tumor suppression gene.C...

A 24-year old female patient was referred to the endocrinology department after discovery of a left adrenal tumor measuring 4×5 cm, on a CT-scan performed for recurrent back pain. She had a history of lower extremity lymph-oedema since the age of 13 years and juvenile xanthogranulomas operated at the age of 2 years. The tumor had a high density in native CT sequences (48 Hounsfield Units). MRI showed T1 iso-intensity and T2 hyper-intensity, as well as lymph nodes of the c...

Background: Familial paraganglioma type 1 syndrome is a hereditary form of paraganglioma due to an autosomal dominant, paternally inherited, germinal mutation in the SDHD subunit. Intestinal pseudo-obstruction is a rare complication of secretory PGL. We present a case of a patient with a malignant PGL syndrome type 1 who developed intestinal pseudo-obstruction.Clinical case: The patient was a Dutch male, aged 39 years, carrier of a germinal mutation in e...

Introduction: Neuroendocrine tumors are rare tumors with increasing incidence. They are characterized by the expression of proteins and hormonal products common to neurons and endocrine cells, and are often diagnosed at an advanced stage due to the delayed onset of nonspecific symptoms. We report the case of a patient who presented with a flush syndrome associated with a thyroid nodule and who was subsequently diagnosed with a digestive neuroendocrine tumor<p class="abstex...

Introduction: Chemodectomas of carotid glomus secret mainly catecholamines and/or ACTH. These tumours are very rare cause of ectopic secretion of parathormone (PTH), althought this possibility should be taken into consideration. Therefore, diagnosis of primary hyperparathyroidism (PHPT) as a cause of hypercalcemia in patients with chemodectoma tumours is problematic and may lead to inappropriate diagnosis and treatment. Presented patient is a 64-years old female with non-opera...

Neuroblastoma is a tumor that originates from immature nerve cells. It is the most common extracranial solid tumor in children, but is extremely rare in adults.Aim: The role of MIBG scintigraphy in diagnosis and follow-up of patient with neuroblastoma.Case report: A 55-year-old woman underwent for regular abdomen ultrasound examination. Sonography revealed inhomogeneous, predominantly isoehogenic tumor mass above the upper lobe of ...

Introduction: Ectopic Cushing syndrome caused by a neuroendocrine tumor is uncommon and it’s diagnosis is often delayed. Optic neuritis is another rare disease, with some cases also associated to neuroendocrine tumors.Case-report: A 43-year-old female was referred to the endocrinology outpatient’s department due to obesity. She had a past history of bilateral optic neuritis of unknown etiology. She complained of weight gain, hair loss, acne, hi...

Objectives: Understanding and propagating the knowledge of the burden caused by the massive infradiagnosis of Primary Aldosteronism (PA), partly due to unawareness of its high prevalence and partly to the complexity of its screening in Primary Care and workup in Specialized Care.Methods: Review of the relevant literature and personal reflections.Results: PA is the first cause of secondary hypertension and a highly prevalent disease...