Endocrine Abstracts

The ectopic secretion of corticotropin from no pituitary tumours causes ~10–20% of cases of Cushing’s syndrome. Enteropancreatic neuroendocrine carcinoma represents a rare cause of ectopic ACTH syndrome.Case: A 51 years-old woman without past medical history was admitted by gain weight, facial oedema 4 months previous. Physical examination: BP 167/124, cardiac rate 49 bpm, facial oedema, troncular obesity. No others abnormalities. Laboratory te...

Introduction: Bullous pemphigoid (BP) is an uncommon chronic, autoimmune, and subepidermal disease. It can be associated with drugs, u.v. irradiation, and X-ray therapy. There is a number of reports on bullous pemphigoid (BP) induced by DPP-IV inhibitors (vildagliptin, sitagliptin, saxagliptin). The enzyme DPP-IV degrades glucagon like peptide 1 (GLP-1), which is a potent stimulator of insulin production and secretion. DPP-IV (CD26), present as a cell surface molecule on immun...

Introduction: Testosterone treatment in female-to-male transsexuals has been associated with worsened cardiovascular risk factors, acne, male-pattern baldness and more rarely with the onset of hypertension. Another frequent side effect of the treatment is aggression proneness -but rarely actual aggression- and increased libido.Case report: We present the case of a 17-year old transsexual patient referred for initiation of testosterone treatment. A low in...

Ectopic thyroid is a rare developmental anomaly of the thyroid gland which is defined as the presence of thyroid tissue at a site other than the pretracheal area. Nearly 1–3% of all ectopic thyroids are located in the lateral neck. Simultaneous submandibular ectopic thyroid tissue presenting with a functional orthotopic thyroid gland is extremely rare. A 37-year-old woman was admitted to our outpatient clinic with a cervical mass existing for 3 years. On physical examinat...

Osteopoikilosis (OPK) is a rare benign sclerotic bone dysplasia. It is inherited in an autosomal dominant pattern. There is no exact evidence of its aetiology and pathogenesis. Usually, it is an asymptomatic disease and the diagnosis is made incidentally from radiographs which show multiple, small, well-defined, variably shaped and widely distributed sclerotic areas over the skeleton. We report a family with OPK. A 22 years old woman was admitted to outpatient clinic with comp...

Introduction: Ophthalmopathy, the most common extrathyroidal manifestation of Graves’ disease, occurs in 5% of cases in the absence of hyperthyroidism. Amiodarone, an iodine-rich antiarrhythmic drug, influences thyroid function, causing thyrotoxicosis or hypothyroidism, but its effect on thyroid autoimmunity is still a matter of debate.Case report: We report the case of a 58-year-old woman, suffering from non-sustained ventricular tachycardia, treat...

Introduction: Squamous cell thyroid carcinoma is a very rare malignant epithelial tumour. It presents as rapid growth cervical mass, may affect neighbour structures and sometimes metastasizes other parts of the body. It’s often associated with previous goiter history and occasionally with autoimmune thyroiditis. It can appear pure, as a component of undifferentiated carcinoma, or combined with differentiated carcinoma areas (papillary or follicular).<p class="abstext"...

Lesions causing primary hyperparathyroidism (PHP) can be summarised as solitary adenoma (80–85%), multiglandular hyperplasia (15%), parathyroid carcinoma (1%). While double adenomas are identified in 2–15% of the patients which are operated for PHP, triple adenomas are very rare. The case is presented because in the recent years patients who are admitted to the hospital with intense bone complaints are very unusual and multiple adenomas are also seldom. 22 years old ...

Introduction: Gitelman syndrome (GS) is autosomal recessive disorder, characterised by hypokalemia, hypomagnesemia, metabolic alkalosis and low urinary calcium excretion. We report a case with final diagnosis of GS using the DNA analysis, presented with severe hypokalemia but normomagnesemia.Case report: A 47-year-old Japanese male presented to our hospital because of severe hypokalemia in the annual health check-up. Severe hypokalemia was pointed out in...

Introduction: The significant increase in the average lifespan of the general population lead to a proportional enhancement in the prevalence of benign and malignant thyroid conditions and equally the number of surgeries for this pathology.Patients and method: In a personal series of 464 thyroid disorders undergoing surgery over two decades we recorded 51 patients (21.5%) aged over 65 years of which 11 (2.4%) having over 75 years. Demographic, clinical a...

Introduction: In adults, the most common cause of obstructive sleep apnoea is obesity. Other causes are anatomical craniofacial bony abnormalities, neurologic syndromes, alcohol and sedatives use, hypothyroidism, acromegaly and rarely thyroid goitre. Untreated obstructive sleep apnoea can lead to serious complications, including cardiovascular diseases, accidents, and premature death.Case report: A 56-year-old patient was referred to a pulmologist due to...

Introduction: Acute intermittent porphyria (AIP) is an autosomal dominant disorder resulting from partial deficiency of the haeme biosynthetic enzyme porphobilinogen deaminase.Case report: A 17-year-old female presented with progressive abdominal pain. She had history of recurrent abdominal pain and darkening in urine colour. She was on lansoprazol and metaclopramide, initiated 2 days earlier. She did not have additional personal or relevant family histo...

Introduction: High-resolution ultrasound (US) allows the location of large parathyroid adenomas. These tumours should be however differentiated from thyroid nodules. For the confirmation of the parathyroid adenoma, we propose US-guided fine-needle aspiration biopsy (FNAB) of suspected nodules, with additional parathyroid hormone (PTH) analysis in the washout of the aspirate (PTH-FNA).Case report: A 51-year old woman with recently installed menopause and ...

Introduction: Hyperthyroidism is not a widely recognised association with Venous thromboembolism (VTE). However, Several previous studies suggest that hyperthyroidism represent a potential hypercoagulable and hypofibrinolytic state, which may contribute to the increased risk of thromboembolism.Case report: A 39-year-old lady presented with Swelling over bilateral lower limbs for 1 month, Palpitation for 1 month. She had history of swelling over neck for ...

Introduction: A diagnosis of subacute thyroiditis (SAT) is readily suspected when patients present with a particular set of typical clinical and laboratory characteristics. We present a patient with atypical SAT who had no neck pain but presented with fever, and weight loss; had thyrotoxicosis with normal 99mTc uptake, and needed higher doses of steroids to resolve.Case report: A 57-year-old man presented with a fever (39  °C) of 2 month-durati...

Introduction: New treatments of diabetes improve global metabolic status beyond glycemic control and achieve weight reduction in many patients.Case reports: We described four case reports to show GLP-1 agonists and dapaglifozin effects on metabolism and weight in patients with type 2 diabetes and obesity.Case 1 (Liraglutide): A 48-year-old man, hypertension, type 2 diabetes and extreme obesity. Baseline visit: treatment enalapril 2...

Introduction: Thyrotoxicosis after total thyroidectomy (TT) is mostly iatrogenic. Rarely, an hyperfunctional thyroid remnant or ectopic tissue may be the cause. We report a case of Graves’s disease in a mediastinal thyroid mass presenting 7 years after TT for nontoxic goitre.Case report: A 67-year-old woman presented with palpitations, fatigue and weight loss. She had a history of TT for nontoxic multinodular goitre at the age of 60 without any sign...

Introduction: Severe hyponatremia defined as the blood sodium concentration below 115 mmol/l is rarely recognised in the course of autoimmune polyglandular syndrome type 2 (APS t.2). The aim of the paper is to present the female patient with severe hyponatremia preceding the diagnosis of APS t.2 of atypical clinical picture.Case report: A 54-year-old woman with the diagnosis of psoriasis established 10 years earlier and treated for psoriatic arthritis fr...

Introduction: Leri–Weill dyschondrosteosis (LWD) is a rare autosomal dominant dyschondrosteosis characterised by Madelung deformity and mesomelic dwarfism. Majority of cases are associated with haploinsufficiency of the short-stature homeobox-containing (SHOX) gene. Here we report a patient with LWD and diabetes mellitus (DM).Case report: A 31 years old man applied with polyuria and polydipsia. He did not have any chronic disease. In family history,...

Introduction: Hyponatraemia is the most common of electrolyte abnormalities. There are numerous factors which may directly cause or contribute to hyponatraemia, including dehydration, concomitant cardiac/hepatic/renal disease, and certain medications, such as diuretics. Hyponatraemia may cause a range of symptoms, depending on the speed and severity of the deficiency. Mild hyponatraemia (>115 mmol/l), can causes malaise, nausea and vomiting. Significant hyponatraemia, [Na<...

Introduction: We describe a case of a 32 year old woman with bilateral carotid body tumours as initial finding of a paraganglioma syndrome type 1.Case: A 32-year old previously healthy mother was referred because of bilateral neck swelling, presumably lymphadenopathy, associated with recurrent upper respiratory tract infections during the past year. Cervical ultrasound raised the suspicion for bilateral carotid body tumours which were confirmed by MR-ima...

A 83-year-old lady presented to hospital with a one week history of malaise, dyspnoea and chest pain. Her admission bloods revealed a markedly elevated calcium of 4.16 mmol/l. Further investigations revealed a PTH of >5000 ng/l. Clinically the patient had poor dentition which had developed over the past 3 years and a history of episodic abdominal pain and constipation. For investigation of primary hyperparathyroidism, she had an ultrasound neck, which revealed an enlarged ...

Introduction: Graves’ disease (GD) has been related to a higher incidence of thyroid cancer. Thyroid nodules found in GD seem to have a higher risk for malignancy. The prognosis of thyroid cancer may be aggravated by the association with GD.Case report: We present the case of N.I, a 56-year-old woman diagnosed with multinodular goitre and overt hyperthyroidism for which therapy with carbimazole 40 mg/day was started. She was referred to our Endocrin...

Introduction: Proton pump inhibitors (PPIs) are commonly prescribed drugs. We report a case of severe hypocalcaemia secondary to omeprazole-induced hypomagnesaemia.Case report: A 85-year-old Chinese man with stage 4 chronic kidney disease was admitted to our hospital in Jun 2014 with vomiting and weakness. On admission, he was severely hypocalcaemic (adjusted calcium 1.37 mmol/l (RI: 2.15–2.58)) and hypomagnesaemic (Mg 0.1 mmol/l (RI: 0.7–1.0))...

Introduction: The report describes the case of a late-diagnosed primary hyperparathyroidism in the patient, who developed catastrophic renal complications and such advanced osteoporosis, that hungry bone syndrome occurred after removal of parathyroid adenoma.Case report: A 63-year-old woman with long-lasting nephrolithiasis was admitted to the hospital due to high PTH discovered in a routine laboratory testing. She had undergone left-side nephrectomy 2 y...

Introduction: Acute thyroiditis is an uncommon illness that exceptionally presents with thyrotoxicosis. Differential diagnosis mainly includes subacute thyroiditis. Nocardia asteroides is an opportunistic pathogen, with the majority of infections occurring in immunocompromised patients, as the delay in diagnosis due to negative blood cultures makes it potentially letal.Case report: We present a case of acute thyroiditis due to Nocardia that presents with...

Introduction: Pancreatic ACTHomas have a poor prognosis with severe and rapidly progressive clinical courses, influenced by hypercortisolaemia thus whenever possible, control of the cortisol levels should be obtained to reduce complications. We report the use of adrenal embolisation in a case of a life threatening paraneoplastic Cushing.Case: A 51-year-old woman with a negative past medical history complained of general weakness. Cushing’s syndrome ...

Introduction: Hyperparathyroidism during pregnancy is a serious problem. Appropriate management is a matter of debate. We would like to present cases in which, PHP was diagnosed in completely different circumstances, though end up with various pregnancy outcomes.Case report: First patient was 29-year-old women in 21th week of her second pregnancy admitted to our ward due to suspected relapse of Graves’ disease and possible adrenal dysfunction. She p...

Tuberculosis of the thyroid gland occurs rarely, and should be considered in the diagnosis of nodular lesion of the thyroid gland. We report the case of a 44-year-old woman admitted for therapeutic management of a suspected goiter appeared at 2 months of hospitalisation and quickly increasing in volume in a few days, she had a goiter clinically type 2, firm, homogeneous, without palpable nodules in it, hardly moving with swallowing movements with slight dysphagia without signs...

Introduction: We introduce a case involving the appearance of superior vena cava syndrome secondary to intrathoracic goitre. We discuss the diagnosis, prognosis and treatment applied to this pathology.Case report: A 67-year-old woman who presents respiratory distress, cough, and weight loss. After physical examination and a chest radiography showing a mass that occupied the upper and middle right lung lobes, a neoplasm is suspected and at first, palliati...

Introduction: Normal or elevated TSH level in the presence of elevated T4 is defined as ‘inappropriate TSH syndrome’. Two main clinical conditions that can lead that syndrome are TSH-secreting adenoma (TSHoma) and resistance to thyroid hormone (RTH). Making the correct diagnosis is crucial in order to decide the most appropriate treatment option. Herein we presented clinical and laboratory data of seven patients who were hospitalised for the differential d...

Introduction: The polyglandular autoimmune syndromes (PAS) are rare conditions characterised by the failure of several endocrine glands sometimes associated with other non-endocrine autoimmune diseases. There are four categories of PAS: PAS-I includes at least two out of: mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. PAS-II comprises of Addison’s disease, autoimmune thyroid disease and/or type 1 diabetes (Carpenter’s syndrome). PAS-III is ...

Introduction: Hyperinsulinaemic hypoglycemia after gastric bypass surgery is a rare but probably underestimated complication. The mechanisms leading to hypoglycemia are complex and incompletely understood and involve several factors: A part from decreasing insulin resistance, caloric restriction and alteration of nutrient delivery, enhanced secretion of insulin and incretins (GLP1 and GIP), altered physiology of other hormones and dysregulation of counterregulatory effectors s...

Hypertriglyceridaemia and obesity are common encounter in diabetic patients. It is often refractory to conventional treatment especially those with a very high triglyceride (TG) levels. The institution of medium chain diet (MCT) and fish oil in addition to the liraglutide and SGLT2 and conventional insulin has rendered significant and a satisfactory triglyceride, and glucose level as well as weight reduction. We would like to illustrate a case of 35 years old lady with a diffe...

Introduction: Amyloidosis is characterised by accumulation of amorph and proteinous substance in several tissues and organs. Thyroid, adrenal, and pituitary insufficiencies may rarely be observed due to accumulation of these substances. Here, we present a case to point out this rare condition.Case report: A 19-year-old male patient admitted with complaints of swelling in the neck, abnormality in thyroid hormone levels and fatigue. He had been diagnosed w...

Introduction: Neurofibromatosis type 1 (NF1), also known as von Recklinghausen’s disease, is the most common type of NF and one of the most frequent human genetic diseases. Gynaecomastia due to pseudoangiomatous stromal hyperplasia (PASH) in patients with NF1 is quite a rare complication but still it should be differentiated from gynecomastia caused by other conditions.Clinical case: A 30-year-old man, previously diagnosed with NF1 at the age of 19,...

Introduction: Bilateral calcification of auricular cartilage is an uncommonly reported condition. The aetiology of this phenomenon is still unclear. Petrified ears have seldom been described in association with endocrinopathies such as adrenal insufficiency, hypothyroidism, diabetes mellitus, and acromegaly.Case report: We present the case of a 42 year-old male patient, diagnosed with Addison’s disease at the age of 14, currently undergoing treatmen...

Background: Bullous pemphigoid is an autoimmune blistering disease that commonly arise in elderly with increased risk for mortality and morbidity. The aetiology of this disease is not entirely clear, although a few cases have been described with dipeptidyl peptidase IV inhibitors.Case 1: A 81-year-old man presented with bullous pemphigoid after 28-month treatment with repaglinide, vildagliptin, and metformin. The patient’s condition didn’t impr...

Hashimoto’s thyroiditis is an autoimmnune condition most common in females but can be also found in children with a prevalence of 1.2%. When is associated with hypothyroidism, the growth delay is an important, but late symptom. We present the case of a 12-year-old boy presenting with small height for age (123 cm, <−3 S.D.), important weight gain and fatigue. He was the only child from parents of average height and had normal weight at birth (3300 ...

Autoimmune polyendocrine syndromes (APS) are rare groups of diseases with autoimmune failure of at least two endocrine glands. In general, APS1 first occurs with candidiasis. Hypoparathyroidism generally presents until 10 years of age, and adrenal insufficiency around 20 years. We aim to this report a young girl is presented with early onset APS1 first presenting with adrenal insufficiency.Mucocutaneous candidiasis on the oral mucosa, and ectodermal dyst...

Introduction: Propylthiouracil-induced severe hepatotoxicity is a relatively rare occurrence, with very few cases reported in the literature. The management of this complication in pregnancy can be a challenge because of the effects of the various treatment options on the foetus.Case presentation: We report a case of hyperthyroidism in a 28-year-old woman that occurred at 20 weeks gestation. This situation was due to Graves’ disease. Propylthiouraci...

Objective: To report a case of a patient diagnosed with latent autoimmune diabetes of adulthood (LADA) based on clinical presentation and positive glutamic acid decarboxylase antibodies (GAD-abs) that converted to antibody negative diabetes after combined treatment with sitagliptin and vitamin D.Methods: A 31-year-old male presented at the emergency room with symptoms of polyuria, polydipsia, and weight loss. Blood glucose was 300 mg/dl with mild ketonur...

Introduction: Papillary thyroid carcinoma (PTC) is the most common thyroid malignancy (80%), while primary thyroid lymphomas (PTL) occur in only 0.6–5% of cases. A significant number of PTCs, as well as PTLs, arise in the setting of Hashimoto’s thyroiditis (HT), however the simultaneous occurrence of these two malignancies is extremely rare.Case report: We present a 34-year-old female patient with thyroid MALT lymphoma and coexisting papillary ...

Case history: A 38-year-old man was referred with a 12-month history of recurrent bouts of transient hyponatraemia (serum sodium ranging from 115 to 125 mmol/l). Citalopram, which he was taking for depression, was discontinued, but the episodes continued.Initial investigations: Whilst symptomatic, and clinically euvolaemic, his biochemical profile was consistent with a syndrome of inappropriate antidiuresis (SIAD): sodium 124 mmol/l, potassium 4.5 mmol/l...

We present a case of a 52-year-old man with a past medical history of primary hypothyroidism on treatment, presenting with elevated TSH levels, suggesting inadequate thyroxine (T4) replacement. The patient was managed with 200 μg of T4 for 14 years with no compliance issues. TSH levels failed to normalise despite increasing the dose of T4. In addition to elevated TSH levels the patient noted progressive leg swelling and associated shortnes...

Hypothalamic amenorrhoea is a diagnosis of exclusion, frequent cause of which are medications or psychiatric disorders (bulimia/anorexia). Here we present a case, when its aetiology was gender identity disorder. A 18-year-old girl presented with absence of menses during last year. Menses began at the age of 14 and were regular till age of 16, when she moved to another city. She was seen by gynaecologist because of amenorrhea, and evaluation was performed: FSH 4.6 mU/ml (1.37&#...

Introduction: Multiple endocrine neoplasia type 2A (MEN2A) is a complex autosomal dominant inherited syndrome characterized by medullary thyroid carcinoma (MTC), phaeochromocytoma, and primary parathyroid hyperplasia (PPH). In patients with only one or two clinical features, identification of a germline rearranged in transfection (RET) mutation or the identification of the clinical features of MEN2A in other first degree relatives is required to make the diagnosis. We present ...

Introduction: Paragangliomas are neuroendocrine tumors arising from extra-adrenal chromaffin cells. Paragangliomas of the head and neck frequently originate from the paraganglionic system including the carotid bifurcation, middle ear and the ganglion nodosum of the vagus nerve. However, of paragangliomas of the head and neck, only 1–3% secrete hormones and majority are non-functional. Here, we describe a case of non-functional paraganglioma confused with parathyroid adeno...

Introduction: While mediastinal parathyroid carcinoma is a rare entity by itself, multiglandular coexistence of parathyroid carcinoma and adenoma represents an extremely rare condition. Herein, we report such a rare presentation of multiglandular parathyroid neoplasm with an ectopic carcinoma in the mediastinum and adenoma on the right side of neck in a patient with persistent primary hyperparathyroidism (PHP).Case report: A 38-year-old female patient wh...

Introduction: Intraoperative identification of neck lesions in patients who have undergone previous neck surgery is particularly difficult, because of operative scarring and distorted anatomy. Radioguided occult lesion localisation (ROLL) involves the preoperative intratumoral ultrasound-guided injection of a radioactive tracer. In the present study, we investigated the efficacy of roll in two patients with papillary thyroid cancer (PTC) who underwent previous neck exploration...

Introduction: Familial hypocalciuric hypercalcaemia (FHH) is a rare genetically heterogeneous disorder, with 3 variants described. An inactivating mutation in the calcium sensor receptor (CASR) gene causes the subtype 1, which represents 65% of the cases.It is charaterised by hypercalcaemia and hypocalciuria with normal or elevated PTH. FHH is generally assymptomatic and treatment is not needed. Differential diagnosis with primary hyperparathyroidism (PH...

Introduction: Different forms of brain damages in endocrine disease are relatively common. Recently the Hashimoto encephalopathy is more frequent recognised and successfully treated. The diagnosis criteria and treatment options however are still under discussion. On the other hand in neurology are described new pathologic entities, which can occurred also by endocrine patients.Case: In September 2009 by the 66 years old women with type 2 diabetes and met...

Introduction: Graves’ orbitopathy is usually associated with Graves’ Disease, which is typically characterized by hyperthyroidism and goiter. However, in rare situations, Graves’ disease can also present with hypothyroidism and orbitopathy.Case report: Male, 38 years old, followed by his ophthalmologist for thyroid orbitopathy (exophthalmos right>left and conjunctival hyperaemia since 1 year ago) associated with asthenia, tiredness and...

Introduction: A thyroid nodule discovered in a patient with Graves’ disease (GD) should be evaluated and managed according to guidelines. A subcentimetre incidental thyroid cancer founded in a patients with GD, without high-risk history, without suspicious sonographic (US) features has not been reported yet.Clinical case: A 40-year-old female patient, presented to our hospital with symptoms of thyrotoxicosis. On physical examination heart rate was 1...

Introduction: Several autoimmune determinations have been reported in association with autoimmune thyroidits (AIT). While the classical correlations with other endocrine or general autoimmune diseases like pernicious anemia or vitiligo are frequent and well defined, there are fewer data on other rarer associations, as with celiac disease (CD). In the absence of typical clinical symptoms this association may be overlooked, as in the case we present.Case p...

Introduction: Ectopic thyroid tissue is the most common form of thyroid dysgenesis. But primary malignant transformation in ectopic thyroid tissue is quite a rare entity, with follicular malignancy being the dominant form at ectopic sites. Very infrequently, malignant ectopic thyroid tissue can present with metastasis to lymph nodes. But we report a case of malignant ectopic thyroid tissue over manubrium sterni with distant metastasis.Case presentation: ...

Introduction: Medullary thyroid carcinoma (MTC) occurs in a hereditary pattern in 25% of cases. Virtually all patients with multiple endocrine neoplasia 2A (MEN2A) develop MTC. MTC aggressiveness and natural history varies according to the RET mutation. Prophylactic thyroidectomy may cure and/or prevent metastatic disease in most cases.Case report: A 27-year-old man with past history of colostomy at 5 months of age for Hirschsprung disease and t...

Papillary thyroid cancer (PTC) is the most frequent thyroid tumour. Medullary thyroid cancer (MTC) however, is very rare. We report a case of coexistent medullary and papillary carcinomas in two different foci in a patient with family history of TPC in a first-degree relative.Case: A 65-year-old female was examined for multinodular goiter (MNG). She had a family history of thyroid papillary carcinoma in her elder sister. Free T4, free T3<...

Introduction: Severe hirsutism and virilisation, especially if occurring later in life and with rapid onset, should prompt the search for rare but potentially threatening causes such as an androgen secreting ovarian or adrenal tumour.We present the case of a 47-year-old woman referred to our clinic with obesity, severe hirsutism, alopecia, acne, and deepening of the voice that appeared insidiously 2 years ago, along with amenorrhoea which she interpreted...

Background: Takotsubo cardiomyopathy (TC) is characterised by acute, transient left ventricular apical ballooning precipitated by emotional or physiologically stressful stimuli and has been previously associated with Graves’ disease based on few clinical reports. More recently, the association with exogenous thyrotoxicosis and radioiodine-induced thyroiditis has also been described. Iatrogenic hyperthyroidism on patients under levothyroxine replacement therapy for hypothy...

We report the case of a 41-year-old lady who developed severe thyroid eye disease on a background of long standing hypothyroidism. She had been diagnosed with autoimmune hypothyroidism 15 years previously with positive TPO antibodies. She had been successfully maintained on levothyroxine replacement since then. She presented with a four year history of progressive eye swelling, gritty eyes and diplopia. On examination she was found to have active thyroid eye disease with restr...

Introduction: Neuroendocrine tumours (NET) represent ~20% of all primary neoplasms of the lung. Histologic confirmation is important for treatment and prognosis determination. NET are classified according to four subtypes in the lung: typical carcinoid tumour (TC), atypical carcinoid tumour (AC), small cell carcinoma (SCC), and large cell neuroendocrine carcinoma (LCNEC). TC is low-grade, AC is intermediate-grade, and SCC and LCNEC are high-grade malignancies.<p class="abs...

Introduction: Pregnancy for women with Graves’ disease is at risk for the mother and the newborn. In fact neonatal hyperthyroidism is uncommon, often transient in the context of maternal Graves’ disease (1% of children). Immediate treatment is essential for a good prognosis, prenatal treatment improves foetal and neonatal development.Case report: We report the case of a patient, known for Graves’ disease since 2006, treated initially with ...

Introduction: The Ehlers-Danlos syndrome, classic type is a connective tissue disorder, characterized by skin hyperextensibility, abnormal wound healing, and joint hypermobility, due to COL5A1 or COL5A2 genes mutations. Multiple endocrine neoplasia, type 2A (MEN2A) is a syndrome defined by medullary carcinoma, phaeochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis, because of mutations in RET proto-oncogene. COL5A</...

Introduction: Acute cardiac insufficiency induced by stress (Takotsubo cardiomyopathy (TTC)) is a reversible cardiomyopathy induced by severe emotional stress or severe clinical conditions. It is characterised by transient left ventricular systolic dysfunction and electrocardiographic changes. This cardiomyopathy has been described in some severe neurological conditions and in patients with pheochromocytoma. To date, some cases of this cardiomyopathy have been described in pat...

Introduction: Although, the relationship between pathological process of the parathyroid and thyroid is common, concurrence of primary hyperparathyroidism (pHPT) and papillary thyroid carcinoma (PTC) is extremely rare, probably because, unlike with medullary thyroid cancer, they have not a common embryologic origin. We present a case with this uncommon association.Case report: A 67-year-old woman with multinodular goitre was addressed in endocrinology fo...

Introduction: The autoimmune polyglandular syndrome (APS) is characterised by the coexistence of at least two glandular autoimmune mediated diseases. We report a combination of an autoimmune thyroid disease, Addison’s disease and an atypical involvement of the parathyroid gland.Case report: A 73-year-old white woman was admitted to our clinic for evaluation due to recurrent syncopes during last 3 years, along with vertigo, cold sweats, and general f...

Introduction: Subacute thyroiditis due to vaccination is reported in only a few case reports. A peritoneal dialysis patient who experienced a repeating attack after a vaccination for influenzae while she was being followed and treated successfully for subacute thyroiditis is presented.Case: A 28-year-old female patient who has been applying dialysis for nine years was seen in policlinic telling about upper respiratory tract infection 2 months ago and pai...

Background: In spite of being the most frequent genetic form of male hypogonadism, Klinefelter’s syndrome is not so rarely undiagnosed until adulthood. As the severity of manifestations in Klinefelter’s syndrome is proportional to the number of additional X chromosomes, they seem less severe and aparent in its classic form, with a 47,XXY karyotype than in cases of this syndrome with mosaicism and other variants.Case report: A 25-year-old male w...

Introduction: Rapid deterioration of health condition in patient with diagnosed neoplastic disease, especially metastatic one, requires consideration of cancer progression. However other rare severe complications can occur. In 0.6–0.7% patients with medullary thyroid cancer (MTC) the ectopic ACTH syndrome (EAS) is observed. Hereby, we present a case EAS in patient suffered from MTC.Case report: A 37-year-old man was admitted to the Department of Int...

A 55-year-old female presented to the Endocrine Clinic with Graves’ disease which was treated with carbimazole for 18 months. Her initial symptoms were facial sweating and dry lips on background of a multinodular goitre confirmed on thyroid ultrasound. TSH was <0.01 mU/l, free T4 was 42.2, and free T3 18 pmol/l. Thyrotoxicosis recurred in an attempt to taper down the dose of carbimazole and a decision was made to proceed with radioactive iodine t...

Myasthenia gravis (MG) and autoimmune thyroid diseases (AITD) may coexist and influence one another clinical expression. The opportunity of thymectomy in this association is controversial, since not all the studies have proven its efficacy. We report eight patients (one man and seven women) diagnosed with AITD (Graves’ disease (GD) – five cases, Hashimoto’s thyroiditis (HT) – three cases) and MG. The AITD diagnosis preceded (two cases), followed (three case...

Introduction: Gestational diabetes insipidus (GDI) is a rare endocrinopathy whose incidence is around four cases per 100 000 pregnancies. It is a potentially life threatening state. We present a case of a 39 year old with GDI.Case report: A previously healthy 39-year-old woman in her 37th week of gestation presented dry oral mucosa with polydipsia and polyuria of 8 l over 24 h for approximately 2 month. The prenatal course of the pregnancy was uncomplica...

Introduction: Leydig cell tumors are the most common testicular sex cord stromal tumors. The most frequent clinical presentation is a testicular mass. However, they can present with endocrine manifestations, and gynecomastia is the most common presentation. Hyperprolactinemia can cause hypogonadotropic hypogonadism, and in males, is also a cause of gynecomastia.Clinical case: A 24-years-old male was referred to our Endocrinology Department due to hyperpr...

Introduction: Graves’ disease (GD) is associated with a number of cardiovascular complications, including rhythm disturbances, mitral valve prolapse, pulmonary hypertension and heart failure. Pericardial effusion in the context of GD has only been reported in a small number of cases.Case: A 59-year-old gentleman presented with a 3-day history of dyspnoea and pleuritic chest pain. He had a previous history of GD 8 months ago, pulmonary embolism (PE),...

Introduction: The coexistence of hyperthyroidism and thyroid cancer is rare (below 2% of cases with hyperthyroidism). If this association predisposes to larger, multifocal or more aggressive cancer (especially in Graves’ disease) is a matter of debate. We describe the clinical and hystopathological aspects and evolution in two patients with hyperthyroidism and thyroid cancer.Patient 1, a 42-year-old woman, was diagnosed in 2008 with Graves’ dis...

Introduction: Gigantomastia is a rare condition characterised by excessive benign breast tissue growth that is thought to be a result of elevated physiological levels of circulating hormones (e.g. pregnancy), or an increased sensitivity of the breast tissue to such hormones. Isolated reports describe some medical conditions as precipitants (e.g. systemic lupus erythematosus (SLE)) or drugs (e.g. cyclosporine). Many will proceed to surgical intervention to improve physical and/...

Introduction: Turner’s syndrome (TS) or Ullrich-Turner’s syndrome is genetic condition that affects only females. It is characterized by typical physical features and complete or part absence of one of the X chromosomes. Women with TS have been reported to be at increased risk of autoimmune diseases as compared with other women. Idiopathic thrombocytopenic purpura (ITP), isolated low platelet count (thrombocytopenia) with normal bone marrow and the absence of other c...

Introduction: The link between Celiac disease (CD) and type 1 diabetes mellitus is well known. CD is an autoimmune disorder which was considered as a disease of childhood. Now, we know that CD is life-long condition. It affects people of all ages and all body shapes. Screening for CD or type 1 diabetes is recommended in individuals already diagnosed with either disorder. When individuals have both diseases, type 1 diabetes is usually diagnosed first.Obje...

Seventy percent of women bearing PCOS are obese; adiponectin and TNFα, as obesity markers, have a dual role in the sensitivity and action of insulin. Adiponectin (insulin sensitising) decreases, whereas, TNFα, IL6 (negative regulators of insulin pathway) increases in obese-women. Moreover, TNFα decreases the transcript and protein levels of adiponectin. These changes could affect the normal energetic status in endometrium, tissue that exhibits abnormal insulin s...

Background: Gas-forming pyogenic liver abscess is an uncommon, life-threatening infection that is usually found in poorly-controlled diabetic patients. Here, we experienced a case of gas-forming pyogenic liver abscess in diabetes caused by Klebsiella pneumoniae.Clinical case: A 77-year-old man with 25-year history of diabetes was admitted due to fever for 2 days. On the physical examination, right upper quadrant tenderness of the abdomen was present. Ini...

Introduction: Acanthosis nigricans is a condition commonly associated with disorders characterised by insulin resistance. Data regarding the treatment of acanthosis nigricans are still insufficient.Case report: A 10-year-old overweight girl (BMI=24 kg/m2) presented at the obesity outpatient clinic. Her family history was negative for metabolic syndrome. Clinical examination revealed extensive acanthosis nigricans involving the neck and armpit....

Diabetes insipidus is a disorder characterised by severe liquid-imbalance because of the inability to concentrate urine. Inactivating mutations in either arginine vasopressin receptor type 2 (AVPR2) or aquaporin 2 (AQP2) gene can cause congenital Nephrogenic diabetes insipidus (NDI). AVPR2 is a G protein-coupled receptor (GPCR) and is mainly expressed at the basolateral site of the kidneys collecting duct principal cells. Activation of this receptor by vasopressin is responsib...

Psoriasis (PS) is a skin disease of immune T-cell mediated. It is well known that obesity is a risk factor for severity PS and PS is associated with the degree of overweight. In addition, patients with PS have increased risk of metabolic disorders such as diabetes mellitus (DM) and dyslipidaemia. All these processes are characterised by the presence of systemic chronic inflammation. Liraglutide, an agonist receptor GLP-1, is being used in the treatment of obesity and diabetes ...

Introduction: Metformin-associated lactic acidosis (MALA) is defined as a high anion gap metabolic acidosis with high circulating lactate levels and without hypoperfusion. It is associated with a mortality rate up to 50%.The reported frequency is 0.01–0.05/1000 patient-years, mostly in patients with predisposing factors (which affect its clearance or energy metabolism) such as altered renal function, congestive heart, hepatic and respiratory failure, concomitant medicatio...

Patients with diabetes are prone to peripheral vascular disease. We present the case of an 81 year old female, current smoker who presented to her general practitioner with a 3 day history of ankle oedema for which she received furosemide. She had a background of right above knee amputation due to peripheral vascular disease and essential thrombocythaemia. Five days after commencing furosemide, she developed increased lethargy and confusion. On arrival to hospital, her venous ...

Endocrine disrupting chemicals are substances, both natural and artificial to which we are all exposed, even in a low dose in our everyday life. Health effects attributed to endocrine disrupting compounds include immune dysfunctions, various cancers, neurological effects and behaviour disorders, reproductive problems, early puberty, etc. Over the past 50 years, an increase in urogenital tract abnormalities in males has been noted. We present a 4 year old boy case report, born ...

Intentional insulin overdose in diabetic patients is a rare critical situation. The severity is due to numerous neurological complications, electrolyte disturbances, liver and lung damage or death.Case report: A 65-year-old male, with significant cardiac and pulmonary pathology, diagnosed with type 2 diabetes since 1996 and treated with glargine (70 U/day) and aspart (68 U/day) insulin is admitted to our centre via ER (emergency room) after an episode of...

A 21-year old male with a 4 year history of tip 1 diabetes mellitus was admitted for diabetic ketoasidosis. The patient was on premixed insulin in two divided of 20 units. He had poor control of diabetes with no regular follow up. His height was 141 cm (3rd persentile), and weight was 36 kg (3rd percentile). These anthropometric findings demonstrated low-height for his age. His bone age was consisted with 16 years. Physical examination revealed moon face, hepatomegaly, short s...

Swyer syndrome (pure gonadal dysgenesis) is characterised by female phenotype with a 46 XY genotype due to a mutation of the sex determining region (SRY) gene on the y chromosome. A 28 year old presented with back pain after an accident and had a 2nd lumbar vertebral fracture and severe osteoporosis. The DEXA scan T score was −4.2. Procollagen Type 1 pro peptide and Osteocalcin levels were high. She had been in good health and denied any family illness. She was 180 cm ta...

Cyclophosphamide is an alkylating agent used in the treatment of malignant and autoimmune diseases. Severe hyponatraemia is a serious electrolyte disorder with life threatening neurological sequelae. We report a case of recurrent severe, symptomatic hyponatraemia that developed in a 61 year old female with systemic vasculitis and Sjogrens syndrome following low-dose cyclophosphamide.Case report: A 61 year old lady, with ANA positive systemic vasculitis p...

Introduction: Polycystic ovary syndrome (PCOS) is the most common endocrine disorder and is frequently associated with insulin resistance and type 2 diabetes mellitus. At present, women with type 1 diabetes mellitus (T1DM) are being treated with supraphysiological doses of exogenous insulin with the aim of providing a strict metabolic control. The prevalence of PCOS in women with T1DM varies depending on the diagnostic criteria employed and on the ethnicity of the population s...

Aim: The Swyer syndrome belongs to a group of pure gonadal dysgenesis. Karyotype is 46,XY. Aberrations of chromosome Y or SRY gene mutation is present in 15–30% of cases. These patients have high gonadotropin levels and are classified as having hypergonadotropic hypogonadism. The Swyer syndrome in the female requires close followup because of the high risk of neoplastic transformation in the dysgenetic gonads. Herein we report a case of Swyer syndrome with gonadoblastoma ...

Introduction: Parathyroid carcinoma is a rare cause of hyperparathyroidism. In most cases, hyperparathyroidism is caused by a single benign adenoma. The vast majority of the remaining cases are caused by parathyroid hyperplasia or multiple adenomas. We present here a case of a young Filipina who presented with multiple fractures on all extremities and bilateral parathyroid adenoma.Case presentation: A 19-year-old Filipina presented with bone pains for 7 ...

Introduction: Insulinomas are rare pancreatic islet cell tumours with an incidence of four cases per million per year. About 10% of all insulinomas are malignant. We here examined an insulinoma with aggressive driving in a young male patient with severe hypoglycaemia in the emergency room.Case report: 34-year-old male patient was admitted to the emergency department with the blurring of consciousness. Blood glucose was 19 mg/dl, consciousness tends to sl...

Introduction: Vasoactive intestinal peptide-producing tumours (VIPomas) represent a rare type of neuroendocrine tumour whose incidence is 1 in 10 million per year. Most are located in the pancreas. They cause diffuse watery (secretory) diarrhoea, hypokalaemia and achlorhydria and also appear as an uncommon cause of hypercalcaemia.Case report A 69-year-old female with previous diagnosis of a ‘non-functioning’ neuroendocrine pancreatic tumour (20...

Introduction: Breast neuroendocrine carcinoma is a rare aggressive neuroendocrine tumour (NET) and the research on this subject is poor. Only seven studies were cited in the literature. Incidence in the population has not been reported, but the prevalence is under 0.1% of all breast carcinomas.Case report: AV, 72, is hospitalised for bone pain and significant weight loss (15 kg in 2 months). Patient’s previous history are: diabetes, hypertension, no...

Introduction: The congenital cystic neck masses underlie various diagnosis including tymic cysts. Even they are an embryological defects, the adult onset might be seen. The aetiology is not clearly established. The malignant behaviour or infections are correlated to the cysts. Aim: we present a female case with a complicated history of cysts.Case report: 42-year old female is known with the following medical history. Seven years ago she was operated for ...

Oncogenic osteomalacia is a rare paraneoplastic syndrome, which can be associated with phosphaturic mesenchymal tumor or non-mesenchymal tumour. This tumour produces fibroblast growth factor 23 (FGF-23) that leads to subsequent hypophosphataemic osteomalacia. We, hereby present a patient with oncogenic osteomalasia who is misdiagnosed as ankylosing spondylitis. A 54-year old man with weakness, severe arthralgia involving pelvis, hip joints and lower extremities referred to the...

Gastrointestinal stromal tumour (GIST) is now defined as a specific, KIT-expressing and KIT-signalling driven mesenchymal tumour of the gastrointestinal (GI) tract. We report a case of stromal tumour revealed by prolonged fever and skin lesions associated with primary hyperparathyroidism and pituitary adenoma.Observation: We present the case of a 59-year-old patient admitted for prolonged fever with inflammatory syndrome and latte tasks cutaneous lesions...

Introduction: Gastrinoma is a rare neuroendocrine tumor and associated with liver metastasis in 20–40% of cases. We present a rare case report of a patient with stable liver metastasis due to gastrinoma for more than 35 years.Case report: A 49 year old male is currently on our regular clinic follow up for the liver metastasis due to gastrinoma. His past history includes open laparotomy and resection of gastrinoma (Proven histologically) at the age o...