Endocrine Abstracts

Background: Papillary thyroid cancer (PTC) is the most common type of thyroid carcinoma, but it rarely presents as an intrathoracic mass with concurrent hyperthyroidism due to Graves disease.Case presentation: A 73-year-old man presented with weight loss. Imaging by computed tomography (CT) documented a large mediastinal mass in the infrathyroidal space separate from the thyroid gland and pulmonary lesions suggestive of metastases. Neck ultrasound showed...

Background: Papillary thyroid cancer (PTC) incidence has increased substantially over the last decades. Although 4% of thyroid cancers may induce a sarcoid reaction in the thyroid gland, sarcoidosis (SA) as a disease may exist with PTC, although causality remais uncertain and their coexistence is rarely reported in the literature. They occurs in both genres, between 30–40 years, but females are more predisposed.Case presentation: A 65-year-old man, ...

Background: MTC tends to metastasize early in the course of the disease affecting usually regional lymph nodes; in 7–23% of patients distant metastases may be present at diagnosis (common metastatic sites:liver, lungs, bone). We present two MTC cases with unusual metastases to the breast, pancreas and mandible.Case presentation: Patient No 1: a 48-year-old female was diagnosed with MTC in 1990. Total thyroidectomy was performed followed by neck diss...

Background: 55 year-old male is admitted in 2019 to the hospital for relapsed MEN syndrome.Case report: The pacient first presented to the hospital in march 2012 acusing dysphonia. He was diagnosed with vocal cord paralysis due to locoregional extension of MTC, based on the ultrasound aspect, calcitonin >2000 pg/mL, chromogranin=123 ng/mL and also with primary hyperparathyroidism due to right lower parathyroid adenoma (hypercalcemia=12.8 mg/dl, PTH=2...

Background: Medullary thyroid cancer is a rare neuroendocrine neoplasm that can secrete variety of hormones, including ACTH. Cushing syndrome due to ectopic ACTH secretion is a rare complication of medullary thyroid cancer, usually accociated with metastatic disease. Around 50 percent of patients with medullary thyroid carcinoma and ectopic Cushing syndrome die due to complications of hypercortisolism. Based on the aforementioned, efficient management of hypercortisolism is cr...

Background: Hypothyroidism is a common disorder presenting with both somatic and psychiatric symptoms. Two cases of late onset psychosis are presented as an initial manifestation of myxedema.Case presentation: 1. An 80-year old woman who had no past medical history presented with auditory and persecutory hallucinations. During her hospital stay she was found to have a decreased level of consciousness (GCS:4), and a blood investigation showed the presence...

Background: The association between Graves’ disease and thymic hyperplasia is well documented in the literature. Despite that it remains largely unrecognized in routine clinical practice. The lack of familiarity of usually benign nature of thymic hyperplasia associated with Graves’ disease may result in an aggressive management course, along with associated risks.Case presentation: A previously healthy 32-year-old female was admitted to hospita...

Background: The presence of secondary tumors to the thyroid is well known, although a rare entity (0.5–1.2%). The simultaneous appearance of papillary carcinoma and metastasis from hip osteosarcoma has never been reported.Case presentation: The patient is a 60 year old female who presented with a suspicious left thyroid nodule and a long history of osteosarcoma. The preoperative FNA of the left thyroid nodule was consistent with papillary malignancy...

Introduction: Differentiated thyroid cancer is one of the most common endocrine malignancies. The most common thyroid cancer in adolescence is PTC. It presents with a high rate of loco regional ganglionic metastasis. Hodgkin lymphoma (HL) is a heterogeneous group of neoplasms with an incidence, in Europe, estimated around 2.2–2.7 per 100 000 cases per year. In front of each adolescent case, with concomitant thyroid and lymph nodes, the main question that arises is the pre...

Background: Medullary thyroid carcinoma (MTC) is a rare thyroid neoplasm with a high degree of malignancy derived from the parafollicular calcitonin-secreting cells. This carcinoma may occur sporadically in about 80% of cases or it may be part of the autosomal dominant multiple endocrine neoplasia (MEN) type 2. While the 10-year survival rate is around 40–75%, for metastatic disease, it’s just below 20%.Case presentation: We report the case of ...

Background: Hormonal disturbances may be encountered in the context of paraneoplastic syndromes. Neuroendocrine tumors (NETs) represent a rare group of cancers, derived from the group of chromaffin cells, thus their paraneoplastic potentials remain relatively unexplored.Case presentation: Middle-aged female presented to the local A&E with psychosis, hyperglycemia, mild hypokalemia. Background includes resected ovarian cancer and chemotherapy before 3...

Background: Carcinoid tumors are rare and slow growing malignancies derived from enterochromaffin cells. Two-thirds of carcinoid tumors arise in the gastrointestinal tract, and in 3% of these cases the primary site cannot be determined. Presenting symptoms depend on the location of the primary tumor may be nonspecific and in 13% of patients distant metastases are discovered on diagnosis.Case presentation: A 64 years old woman was admitted for diffuse abd...

Background: ACTH-Independent Macronodular Adrenal Hyperplasia (AIMAH) is usually manifested as both-sided adrenal incidentalomas with subclinical overproduction of cortisol (<2% of Cushing’s syndrome). The pathogenesis involves genetic factors, expression of adrenal aberrant hormone receptors and paracrine adrenal corticotropin (ACTH) secretion. Treatment is usually bilateral adrenalectomy, but in some cases also unilateral adrenalectomy or pharmacologic therapy can b...

Background: Pheochromocytomas are catecholamine-producing neuroendocrine tumors, arising from the adrenal medulla or from paraganglionic chromafin tissue. Their clinical presentation, mainly attributable to the increased catecholamine production and it is highly variable. We herein present a case of a 42-year-old female patient with recurrent episodes of Takotsubo cardiomyopathy due to a pheochromocytoma.Case presentation: The patient presented two years...

Background: Pheochromocytoma and paragangliomas (PPGLs) are rare disorders with a rate of malignancy of 10–20%. The control of the hormonal symptoms caused by the catecholaminergic burden in the metastatic disease is a challenging task. Hypertension is the most recognized feature, but gastrointestinal manifestations can be hard to manage and life-threatening.Cases Presentation: We present three cases of metastatic PPGLs who developed intestinal pseu...

Background: Association of differentiated thyroid carcinoma (DTC) and cortisol-producing adrenal adenoma is not part of the classical MEN syndromes. We present a clinical case raising the question of a common etiology for these tumours.Case Presentation: A 58-year-old female presented in 2010 for the investigation of a 6 cm left adrenal tumour incidentally discovered by abdominal CT. Medical history included smoking, obesity, myocardial infarction, hyper...

Background: Etomidate is mainly used in general anesthesia. In some rare cases it can also be helpful in treating life-thretening severe hypercortisolaemia (in much lower doses) in patients who are not able to take oral medications or when oral drugs are not available.Case Presentation: Fifty-seven-year-old woman with symptoms of virilization, hypokalemia and muscle weekness for 6 months was admitted to Department of Endocrinology. On admission cortisol ...

Background: Adrenocortical carcinoma (ACC) is a rare malignant tumor with a poor prognosis. The only curative therapy is complete surgery (R0). A 5-year local recurrence and distant metastasis rate after R0 is 80–85%. Mitotane is widely used as an adjuvant treatment in patients with a high risk of recurrence. According to the most studies, it can delay and possibly prevent a recurrence of the disease in 35–50%. However, its efficacy is controversial, as well as the o...

Background: Cushing’s syndrome is the most common cause of endogenous hypercortisolism that results from the excessive exposure to glucocorticoids. Even though this syndrome is represented by a constellation of clinical signs and symptoms, the most common next features are the truncal obesity and the moon facies, making it hard not to be recognized. It is more common in women (F/M=5-8:1) with an avarage age of 20–40 years.Case Presentation: A 3...

Background: Pheochromocytoma is a rare catecholamine secreting tumor originating usually from adrenal medulla and representing approximately 5% of adrenal incidentalomas. Currently 10% of all pheochromocytomas are discovered incidentally during imaging studies for unrelated disorders.Case presentation: A thirty five year old woman with no relevant medical history presented at the emergency department with symptoms of left flank pain and vomiting. Abdomin...

Background: Although pheochromocytoma classically presents with headaches, palpitations and paroxysmal hypertension, uncommon presentations such as cardiomyopathy, stroke and subarachnoid haemorrhage have been documented. We present one such infrequent presentation of myocardial infarction with normal coronary arteries (MINOCA).Case presentation: A 79-year Caucasian female presented with central crushing chest pain radiating to left arm associated with h...

Background: Tako-tsubo cardiomyopathy (TTC) is a non-ischemic condition manifested with a temporary weakening of the myocardium after an acute stress. The association between pheochromocytoma (PHEO) and TTC is rare and is attributed to catecholamine excess. We present a case of a young women with an atypical manifestation of PHEO.Clinical case: Patient, F, aged 37, known with multinodular goiter with hypothyroidism for several years, having paroxysmal hy...

Introduction: Pheochromocytoma (PHEO) is a rare neuroendocrine tumor, which presents with various clinical phenotypes, depending on the size of the tumor, the secreting activity, and the secreting product. Large PHEOS exhibit symptoms related to mass effects and malignant PHEOS symptoms related to metastases. Some PHEOS present as adrenal incidentalomas (AI) or with an unusual clinical phenotype.Case report: A 54-year-old Russian female presented with se...

Background: Terlipressin is a vasopressin agonist used in acute variceal bleeding due to its effect on vasopressin V1 receptors, causing splanchic vasoconstriction. Although it has good safety profile, it has been shown to act as partial agonist of V2 receptors but its effects on serum sodium concentration can be variable.Case Presentation: 58 year old lady was admitted after banding for variceal bleed found at routine screening. She was started on terli...

Background: Acromegaly is a rare disorder, with a prevalence of 6 cases of 100000 and an annual incidence of 3–4 new cases of one million. It is almost always the consequence of GH secreting pituitary adenomas and, rarely, caused by nontumoral somatotrophic hyperplasia.Case presentation: 54 years old patient, heavy smoker, hypertensive, dyslipidemic, obese, presents in June 2019 with unspecific symptoms: physical asthenia, hypersomnia (falls asleep ...

Background: Multiple endocrine neoplasia type 1 (MEN1) is an inherited syndrome, characterized by primary MEN1 tumors: parathyroid, pancreatic and pituitary. We describe the case of a patient with MEN1 syndrome, initially presented with a gastric neuroendocrine tumor (NET).Case presentation: A 33-year-old male patient, initially treated for perforated gastric ulcer, presented 7 years later with dyspepsia, diarrhea and weight loss. Abdominal CT scan revea...

Background: Hypopituitarism can be expressed throughout many symptoms and can stay unrecognized for a long time. Xanthogranulomas are extremely rare in sellar region, with prevalence of ~0.6% in reported pituitary tumours and are presented with visual disturbance, hyperprolactinemia, diabetes insipidus and/or hypopituitarism. Its ethiopathogenesis is still not certain, but it can be of primary or systemic cause. It’s almost always diagnosed postoperatively and has good ou...

Background: Only a few cases of pituitary tumor swift from non-functioning to Cushing disease (CD) have been previously presented in the literature. The exact mechanism is still unknown. We present a case of a patient with a non-functioning pituitary adenoma, who developed CD from the residual tumor, 13 years after the initial diagnosis and following 2 surgical interventions and radiation therapy.Case presentation: A 51-year-old woman initially presented...

Background: Pituitary apoplexy is a rare clinical syndrome manifested by rapid enlargement of a pituitary mass. When apoplexy occurs in functioning adenomas, it may result in spontaneous remission with or without associated hypopituitarism. Cases of recurrence in such patients are reported in literature.Case description: We present a case of a 44 years old male, overweight and dyslipidemic that presented to our clinic in 2016 and was diagnosed with acrom...

Background: Acromegaly is a rare disease characterised by an excessive production of growth hormone (GH), from a pituitary adenoma. It is a curable disease, either by surgery or by medical treatment, but very rare it can spontaneously cure by the apoplexy of the pituitary adenoma.Case presentation: We present the case of a 58-year-old female who was suspected of acromegaly due to her physical appearance: soft tissue swelling and enlargement of the extrem...

Background: Sheehan’s syndrome occurs after a delivery complicated with hemorrhage causing ischemic pituitary necrosis and panhypopituitarism. It is rare for a patient with Sheehan’s syndrome to obtain recovery of the pituitary function. We report the case of a patient with Sheehan’s syndrome who obtained a spontaneous pregnancy 2 years after the initial diagnosis.Case presentation: A 23-year-old-woman, without a significant personal medic...

Objective: To compare metabolic characteristics of women with different phenotype of polycystic ovary syndrome (PCOS) based on Rotterdam criteria.Materials and methods: One thousand one hundred women with PCOS, aged 17–40, were recruited. The patients were divided into four subgroups according to the phenotype of PCOS defined by Rotterdam criteria: (A): oligo- and/or anovulation (Oligo), hyperandrogenism (HA), polycystic ovaries (PCO); (B): oligo+ H...

Context: The prevalence of reproductive dysfunction among patients with acromegaly (ACRO) and Cushing’s disease (CD) is high enough, and menstrual disturbances are often the first clinical symptoms of the disease. Objective. The purpose of this study was to assess the functioning of the pituitary-ovarian axis by examination of key hormones.Methods and patients: The study included 58 patients of reproductive age, 21 with ACRO, the average age was 36....

Background: Turner syndrome (TS) occurs in approximately 1 in 2500 live female births. The frequency of pregnancies in TS patients is 2-5%. However, these pregnancies are at high risk of recurrent miscarriage, malformations in the children and poor cardiovascular outcomes in pregnant TS females.Case presentation: A 34 year-old woman was diagnosed with TS (46XX/46Xr) at age 9. From 16 to 20 years old she was treated with sex hormone replacement therapy an...

Background and aim: Low energy availability (LEA) may lead to menstrual disorders and low bone mineral density, predisposing to the female athlete triad (FAT) syndrome. The primary aim of this review was to systematically investigate the impact of sports on the energy status of professional female athletes compared to sedentary, recreationally active controls, with regard to their menstrual status and bone mineral density (BMD). A secondary aim was the estimation of the combin...

Background: Secondary hyperparathyroidism (SHPT) is severe complication of chronic kidney disease, characterized by high serum parathyroid hormone (PTH), parathyroid gland hyperplasia, and disturbances in mineral metabolism. Effective management of SHPT includes measures to prevent hyperphosphataemia and excess PTH, to maintain serum calcium within the normal range. In dialysis patients with severe SHPT, medical treatment may fail and parathyroidectomy (PTX) is indicated for d...

Objective: Ionized calcium via calcium sensing receptors (CaSR) mediates feedback inhibition of parat hormone (PTH) secretion. The aim of this study is to evaluate the difference in PTH response during calcium infusion test (CIT), between patients with primary hyperparathyroidism (PHPT) and healthy control (HC).Methods: Study consisted of 15 patients with confirmed PHPT and parathyroid adenoma (57.20±11.38yrs) and 15 healthy subjects-HC (57.20±...

: Primary hyperparathyroidism (PHPT) is a common endocrine condition but is relatively rare in very young people and during pregnancy. The diagnosis in pregnancy poses a unique challenge and is often missed as the symptoms of hypercalcemia mimic those in pregnancy. We present the case of a 20-year old woman who was found to have severe hypercalcemia after she had persistent vomiting in early pregnancy. Biochemistry revealed adjusted calcium of 5.34 mmol/L, parathormone of 103....

Background: Chronic hypophosphatemia in children mimics diverse conditions and may be underpinned by genetic disorders (e.g. X-linked hypophosphatemia), primary hyperthyroidism, tubular disorders (Fanconi syndrome) and neoplasia. Severe sequelae like rickety deformities of the skeleton, mental and physical retardation, osteoporosis and osteomalacia,etc require prompt diagnosis and treatment. Here we present a case report of untreated chronic hypophosphatemia mimicking ketoacid...

Background: Congenital Hyperinsulinism (CH) or, as previously named, Hyperinsulinemic Hypoglycemia (HH), constitutes a major cause of persistent and recurrent hypoglycemia, especially in the neonatal period, showing notable phenotypical heterogeneity among affected subjects. Mutations in genes implicated in insulin release, represent the majority of the cases of CH. Activating mutations of the Glucokinase gene (GCK) are responsible for mild forms of hypoglycemia usual...

Background: Budd-Chiari syndrome, characterized by abdominal pain, ascites and hepatomegaly, is a rare condition, caused by thrombotic hepatic venous outflow obstruction. Diabetes mellitus is associated with impairment of the coagulation and fibrinolysis pathway, suggesting its involvement in the pathogenesis of venous thromboembolism. There are few cases of patients with Budd-Chiari syndrome and Diabetes Mellitus, reported in the literature.Case present...

Background: Solitary fibrous tumor of pleura represents a prototypical mesenchymal neoplasm that induces non-islet cell tumor hypoglycemia due to overproduction of insulin-like growth factor 2, named Dodge Potter syndrome.Case Presentation: An 86-year-old man, non-diabetic, was admitted to hospital with a few months history of repetitive hypoglycemic symptoms and documented low blood glucose of 1.9 and 1.2 mmol/L on two occasions when he lost consciousne...

Background: Wolfram syndrome is an autosomal recessive neurodegenerative disorder characterised by Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (also referred to as DIDMOAD). An estimated prevalence is 1 in 770,000 and an estimated carrier frequency is 1 in 354. Herein, we describe the course of wolfram syndrome in two female siblings.Case presentations: The first patient is a 30-year ...

Background: Glycemia point-of-care testing (POCT) is performed with fingerstick capillary whole-blood glucose measurement. These values correlate well with plasma glucose values. Hypoglycemia can be observed with POCT but should always be confirmed on plasma. True hypoglycemia must meet Whipple’s triad: signs/symptoms of hypoglycemia; low plasma glucose; improvement after glucose administration. Artifactual hypoglycemia is a discrepancy between POCT and plasma glucose and...

Case Presentation: 37-year-old woman of South Asian origin was referred from retinopathy screening to our diabetes clinic for evaluation of an unusual finding during her retinal screen. Her retinal blood vessels appeared white in contrast to normal pink to red colour. She was recently diagnosed with type 2 diabetes and with type 1 hyperlipidaemia (T1 HPLA) confirmed by genotype for more than 10 years for which she had suboptimal control with multiple hospitalisations with recu...

Backgound: Familial hypertriglyceridemia may lead to acute pancreatitis also during pregnancy in some cases. We present two cases with hypertriglyceridemia-induced pancreatitis that recurred despite diet and medical therapy during pregnancy.Case presentation: Twenty-eight-year-old woman presented with hypertriglyceridemia-induced pancreatitis (serum triglyceride: 8502 mg/dL) that was complicated with respiratory distress at 25 weeks of gestation. Followi...