Searchable abstracts of presentations at key conferences in endocrinology
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13th European Congress of Endocrinology

Poster Presentations

Clinical case reports

ea0026p583 | Clinical case reports | ECE2011

MGMT immunoexpression in adamantinomatous craniopharyngiomas

Zuhur Sayid Shafi , Musluman Ahmet Murat , Tanik Canan , Karaman Ozcan , Ozturk Feyza Yener , Ozkayalar Hanife , Altuntas Yuksel

Background: Currently, no effective medical treatment exists for recurrent and aggressive craniopharyngiomas that are resistant to conventional therapies, including repeat surgeries and adjuvant radiotherapy (RT). Temozolomide is an alkylating chemotherapeutic agent and is used routinely in the management of high grade gliomas. The response to temozolomide is suggested to be dependent on the tumoral expression of O-6 methylguanine DNA methyltransferase (MGMT). Evidence ...

ea0026p584 | Clinical case reports | ECE2011

Tolvaptan versus conventional treatment in hyponatraemia secondary to syndrome of inappropriate anti-diuretic hormone (SIADH): first case experience in West-Midlands region, UK

Dandamudi Ravi , Hocking M

Introduction: Tolvaptan is an oral vasopressin V2 receptor antagonist which offers a targeted approach in regulating body water and serum [Na+] and is a novel treatment for hyponatraemia secondary to SIADH. Here we report our first case experience with tolvaptan comparing its efficacy with conventional treatments in the same patient.Case report: A 52-year-old lady was admitted with confusion, nausea and vomiting. She gave a 3-month ...

ea0026p585 | Clinical case reports | ECE2011

Coexistence of double small insulinomas with a small glucagonoma in a patient with multiple endocrine neoplasia-type 1 (MEN-1)

Zuhur Sayid Shafi , Karaman Ozcan , Yildirim Sumeyra , Erdamar Sibel , Senturk Hakan , Altuntas Yuksel

Background: MEN-1 is a rare disease characterized by parathyroid adenoma or hyperplasia, pituitary adenoma and pancreatic neuroendocrine tumors (PNET). Gastrinomas are the most common functional PNET in MEN-1 disease. Insulinomas and glucagonomas constitute approximately 20 and 3% of PNET’s in MEN-1 disease. Most of insulinomas are benign in nature but about 70% of cases of glucagonomas present with metastasis at diagnosis. Coexistence of various PNET’s are very rare...

ea0026p586 | Clinical case reports | ECE2011

A case report of macronodular adrenal hyperplasia with combined cortisol and aldosterone oversecretion in response to β-adrenergic and vasopressin stimuli

Papanastasiou L , Pappa T , Tsiavos V , Tseniklidi E , Prevoli A , Tsounas P , Markou A , Piaditis G

Introduction: Adrenocorticotropin (ACTH)-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing’s syndrome, commonly involving the aberrant expression of several membrane-bound adrenal receptors. Recent studies have investigated whether the latter is also implicated in the renin-independent aldosterone secretion of hyperaldosteronism cases.Case report: A 35-year-old man presented to our department for evaluation of new-onset...

ea0026p587 | Clinical case reports | ECE2011

Virilizing ovarian tumor -- case report

Cortez L , Lopes A , Tavares P , Carvalho A , Agapito A

Virilizing ovarian tumors are a rare cause of hyperandrogenism; they account for 1–2% of all ovarian tumors being the Leydig cell tumor the most common one.We report the case of a 76-year old woman with type 2 diabetes that was referred for androgenic alopecia with 3 years evolution and a recent facial, peri-areolar and dorsal hirsutism. A diagnosis of hypertension was made 18 months previously, and she was on a four anti-hypertensive drug regimen. ...

ea0026p588 | Clinical case reports | ECE2011

Congenital adrenal hyperplasia and adrenal myelolipoma -- incidental ou causal relationship?

Vieira A , Paiva I , Santos J , Alves M , Gouveia S , Saraiva J , Carrilho F , Carvalheiro M

Introduction: There are fewer than 20 reported cases involving congenital adrenal hyperplasia (CAH) and myelolipoma. This is a rare benign tumor, often located on the adrenal, consisting of mature adipose and hematopoietic tissues. Its origin is unclear; the most accepted theory is the occurrence of blood capillaries reticuloendothelial cells metaplasia, in response to infection, stress or necrosis. In a small number of cases ACTH hypersecretion coexists.<p class="abstext"...

ea0026p589 | Clinical case reports | ECE2011

Agenesis of the dorsal pancreas, a rare cause of diabetes: a case report and review of 25 Japanese patients

Shimodaira Masanori , Kumagai Naoko , Tsuzawa Kaoru , Sorimachi Erisa , Kametaka Minako , Honda Kazufumi

Introduction: Agenesis of the dorsal pancreas, with the absence of the pancreatic body and tail, is a very rare developmental anomaly. To date, only 51 cases have been reported in the English literature. This anomaly can be a cause of diabetes mellitus.Case report: A 19-year-old Japanese male visited our department because of glucosuria that had been detected during a routine school health check. The patient had undergone cardiac surgery for atrial and v...

ea0026p590 | Clinical case reports | ECE2011

A case of two novel mutations in the LHCGR gene in a patient with 46,XY DSD

Athanasoulia Anastasia , Noe Sebastian , Stalla Gunter

Introduction: Leydig cell hypoplasia (LCH) is a rare autosomal recessive condition that interferes with normal development of male external genitalia in 46,XY individuals. It is mediated by mutations in the luteinizing hormone receptor gene (LHCGR), most frequently located in the coding sequence, resulting in impairment of either LH/CG binding or signal transduction.Case report: We report a 32-year-old female which presented with primary amenorrhea, fema...

ea0026p591 | Clinical case reports | ECE2011

X-linked adrenomieloneuropathy presenting as Addison’s disease

Bilbao I , Yoldi A , Matteucci T , Garcia C , Aranburu M , Egana N , Alvarez-Coca M , Goena M

Introduction: It has been stimated that up to 30% of idiopathic Addison disease in young boys is due to X-linked Adrenoleukodystrophy. We report the case of a 31-year-old previously asymptomatic man, who presented with hyperpigmentation and fatigue. Investigations revealed hyponatraemia (116 mEq/l), low serum cortisol (2.6 μg/ml) and high ACTH levels (>2000 pc/ml), plasma potassium was 4.37 mEq/l. Adrenal antibodies were absent and abdominal computerized tomography sc...

ea0026p592 | Clinical case reports | ECE2011

Central precocious puberty related to a tuber cinereum hamartoma in neurofibromatosis type 1 (NF1): case report

Vija L , Dumitrescu C , Procopiuc C , Gherlan I , Caragheorgheopol A

Background: The prevalence of precocious puberty (PP) and its relationship to optic pathway tumours in patients suffering from neurofibromatosis type 1 (NF1) is significantly greater than in normal population.Objectives: We present a rare case of precocious puberty in neurofibromatosis type 1 which is not associated with optic pathway tumour but with a tuber cinereum hamartoma.Case report: We present the case of a 5-year and 5-mont...

ea0026p593 | Clinical case reports | ECE2011

Hypoparathyroidism and Morbus Fahr case report

Jovanoska Biljana , Adamova Katerina , Stratrova Slavica Subeska , Bitoska Iskra

Hypoparathyroidism is rare endocrine-metabolic disease, characterized by hypocalcemia, hyperphosphatemia and low level of the parathyroid hormone (PTH). Hypocalcemia sometimes is associated with calcifications at the basal ganglias (Morbus Fahr), leading to epileptic seizures, hypocalcemic catharacta and depression. The patient was admitted at the Clinic of endocrinology in Skopje, due to history of long term epileptic seizures, treated with antiepileptic therapy, operated fro...

ea0026p594 | Clinical case reports | ECE2011

Acute respiratory distress syndrome in a nonsurgical transsexual

Giestas A , Almeida M , Teixeira S , Maia A , Azevedo T , Vaz D , Palma I , Carvalho R

Introduction: Liquid silicone is an inert material that as minimal local tissue reaction, but it is the systemic complications, such as silicone embolism and acute respiratory distress syndrome (ARDS) that carry the highest associated morbidity. Liquid silicone is frequently used for illegal cosmetic procedures in transsexual patients, and the most common injection sites are the hips, buttocks, face and breasts.We report a case of silicone embolism with ...

ea0026p595 | Clinical case reports | ECE2011

A unique case of multifocal intrathyroid parathyroid carcinoma

Kruljac Ivan , Sulentic Petra , Cigrovski Maja Berkovic , Mahecic Davorka Herman , Mirosevic Gorana , Ivkic Mirko , Vrkljan Milan

Intrathyroidally located parathyroid carcinoma is extremely rare cause of primary hyperparathyroidism. Multifocal papillary and follicular thyroid carcinomas are rather common.We report a case of 40-year old man presenting with substantial weight loss, anemia and multiple osteolytic lesions of both tibias. Peak serum calcium level was 5.0 mmol/l, parathyroid hormone (PTH) level was 989 pg/ml. Left thyroid lobe was firm and enlarged. Routine percutaneous ...

ea0026p596 | Clinical case reports | ECE2011

Conservative or radical approach in patients with 46 XY disorders of sex development?

Martin C S , Fica S , Miron A , Giulea C , Terzea D , Enache S , Andrei F , Nitipir C

Introduction: The risk for the development of germ cell tumors is hard to predict in patients with disorders of sex development (DSD) and their optimal management has been a continuous matter of debate. The risk varies between unknown and 40–60% in Denys-Drash/Frasier syndrome. This malignant potential opposes itself firmly to the recent interest in a more conservative approach regarding gonadectomy.Case presentation: We present the case of a 20-yea...

ea0026p597 | Clinical case reports | ECE2011

Use of our last pills of iopanoic acid in a 33-year-old patient in acute refractory pulmonary edema and thyroid storm: requiem for a useful therapeutic agent

Hoyos E Gomez , Novoa P de Miguel , Zorrilla C Montanez , de la Torre N Garcia , Freixes M Curras , Freire R Bover , Pascual A Calle , de la Vega I Runkle

Introduction: The contrast agents iopanoic acid and ipodate are potent inhibitors of thyroid function, reducing type I deodinase T3 generation, inhibiting thyroid liberation of T4 and T3, and T3 receptor binding, with off-label use in hyperthyroid emergencies. However, since the interruption of iopanoic acid production this year, neither agent is currently available in Spain.Case report: A 34-year-old male was ...

ea0026p598 | Clinical case reports | ECE2011

Hypocalcemic laryngospasm in the emergency department

van Veelen M J , Visser M F , Baggen M G A , Dees A

Introduction: Severe hypocalcemia is a life threatening condition, usually symptomatic with cardiovascular and neuromuscular manifestations. Varying clinical presentations and concomitant infections, however, might obscure the right diagnosis, delaying early treatment.Case: A 51-year-old African male presents himself at the emergency department (ED) with complaints of a soar throat, a productive cough and a striking pinched voice. Investigation revealed ...

ea0026p599 | Clinical case reports | ECE2011

Thyroid storm in the emergency department

van Veelen M J , Yurtsever L , Dubois E A , Baggen M G A

Introduction: Thyroid storm is a potentially fatal disorder if treatment is not initiated promptly upon assessment at the emergency department (ED).Case: A 20-year-old young woman is referred to the ED with rapid acceleration of complaints of palpitations, fever, diarrhoea and agitation, which had been present since several weeks.On physical examination we saw an uncomfortable, restless woman with a tachycardia of 170/min, and a fe...

ea0026p600 | Clinical case reports | ECE2011

Lady with backache and inadequate work-up for hypercalcemia for 5 years

Rizwan A , Jumani M , ali I , Jamal A , Sheikh Z

Introduction: Primary hyperparathyroidism affects 1% of the world’s population, with majority of cases due to benign parathyroid adenomas. Parathyroid cancer is a rare cause.Case report: This case report describes a 53-year-old lady presenting with nonspecific bone pains, whose initial workup revealed mild hypercalcemia and MRI lumbosacral spine suggestive of multiple myeloma. Subsequent work up, including two bone marrow examinations and serum prot...

ea0026p601 | Clinical case reports | ECE2011

Primary hyperparathyroidism due to an ectopic intrathymic parathyroid adenoma: case report

Vlad M , Balas M , Nicodin Al , Cornianu M , Onet D , Popa A , Zosin I

Introduction: The most common cause of primary hyperparathyroidism is parathyroid adenoma. Unfortunately, between 11 and 22% of these adenomas are located in ectopic positions. In this report, we describe a case diagnosed in our department with symptomatic primary hyperparathyroidism due to an ectopic parathyroid adenoma localized in thymus.Case presentation: A 21-year-old woman was referred to our clinic for investigations, due to multiples osteoclastom...

ea0026p602 | Clinical case reports | ECE2011

Clinical case of 48 years old man with panhypopituitarism of unclear etiology

Vdovich K Y , Poteshkin Y E , Pronin V S

When patient was an 14-year-old, he presented with a short stature and underdeveloped external genitalia. The patient had not undergone normal pubertal development. Hormonal studies and clinical examination revealed the findings of anterior and posterior pituitary hormone deficiency: ADH, LH (0.2 mIU/l), FSH (1.22 mIU/l). Since then patient took different therapy for diabetes insipidus. Secondary sexual characters developed during patient received gonadotropin for a very short...

ea0026p603 | Clinical case reports | ECE2011

Unusual case of congenital adrenal hyperplasia: polymenorrhagia and markedly high 17-OH progesterone levels in a lady with non classic congenital adrenal hyperplasia

Rizwan A , Hayat M , Sheikh Z

Introduction: Congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency is one of the most common autosomal recessive hereditary diseases. There are two main forms of CAH: early onset, the classic variety, and late onset or non classic type. Here, we aim to describe the case of a young lady with features of both varieties of CAH.Case report: Twenty-three-year-lady of Asian descent presented with polymenorrhagia since menarche (age 13 years), ...

ea0026p604 | Clinical case reports | ECE2011

Schmidt’s syndrome: unveiling step-by-step

Rizwan A , Hayat M , Sheikh Z

Introduction: Autoimmune polyendocrine syndrome type II (APSII) is more common than APSI. It occurs more frequently in female than in male patients, often has its onset in adulthood, and has familial aggregation. Schmidt’s syndrome is a subset of APSII, usually associated with primary hypothyroidism, primary adrenal insufficiency, and often, type 1 diabetes. This case describes the interesting evolution of autoimmune polyendocrine disease (APED) in a young lady with long ...

ea0026p605 | Clinical case reports | ECE2011

Primary hyperparathyroidism in pregnancy: a case report

Grigorie D , Sucaliuc A , Ranetti A , Ivan M

Introduction: It is supposed that primary hyperparathyroidism (pHPT) during pregnancy is associated with significant maternal and fetal risks as high as 67 and 80%, respectively. The very few case reports published referred mainly to unrecognized pHPT or diagnosed during pregnancy. We report the case of a woman with known asymptomatic pHPT who became pregnant.Case-report: A woman, 29 years, was diagnosed with pHPT a year before becoming pregnant; her bio...

ea0026p606 | Clinical case reports | ECE2011

Primary hypothyroidism due to sublingual thyroid associated with growth failure, hyperprolactinemia and pituitary enlargement

Loghin A , Florescu A , Moisii L , Stefanescu C , Galesanu C

Introduction: Thyroid tissue may be found anywhere along the course of thyroglossal duct. Sublingual thyroid is a rare type of ectopic thyroid tissue resulting from failure of the embryonic development and migration of the thyroid gland to its normal pre-laryngeal site, reaching between genio-hioid and mylohyiod muscles. In most cases, hypothyroidism develops due to inadequate hormon production. Hypothyroidism may produce pituitary enlargement secondary to thyrotroph hyperplas...

ea0026p607 | Clinical case reports | ECE2011

Hypoglycemia in patient with large intraabdominal tumor

Ivovic Miomira , Vujovic Svetlana , Tancic-Gajic Milina , Marina Ljiljana , Djukic Vladimir , Micic Dusan , Micic Dragan

Introduction: Various non pancreatic tumors can cause hypoglycemia. Usually they are mesenchymal, retroperitoneal tumors or fibrosarcomas. Hemangiopericytoma is a rare type of mesenchymal tumor, which mostly develops in soft tissue and originates from the Zimmermann’s pericyte (modified smooth muscle cells).Case report: Fifty-nine-years old female patient with hypoglicemia was addmited to our department. Physical finding showed mild obesity and hype...

ea0026p608 | Clinical case reports | ECE2011

Pheochromocytoma and paraganglioma in patient with extirpated ganglioneuroma

Marina Ljiljana , Ivovic Miomira , Vujovic Svetlana , Tancic-Gajic Milina , Zivaljevic Vlada , Arizanovic Zorana , Nenezic Ana , Micic Dragan

Ganglioneuromas are benign sympathetic tissue tumors originating from neural crest cells. A 40-year-old female patient, was admitted to our department for endocrinological evaluation of incidentally discovered tumor of right adrenal gland. For about a year before admission she had a pain under the right costal arch. An ultrasound and computed tomography (CT) showed 2 ovoid cystical tumors of right adrenal (34 and 32 mm, respectively). Three months prior admission she had sever...

ea0026p609 | Clinical case reports | ECE2011

Cushing syndrome due to macronodular adrenal hyperplasia or bilateral adrenocortical adenomas? Case report

Lopes A , Fonseca F , Duarte L , Milheiro A , Agapito A

Introduction: Adrenal incidentaloma are becoming very frequent. Bilateral adrenocortical adenomas are a rare cause of ACTH-independent Cushing syndrome.Clinical case: A 64-year-old hypertensive woman presented with bilateral adrenal incidentaloma detected on the evaluation as a living kidney donor candidate. She was normotensive (129/87 mmHg) on monotherapy, BMI – 24.8 kg/m2, with no recent weight gain, hirsutism, striae or mood disturban...

ea0026p610 | Clinical case reports | ECE2011

Cholestatic jaundice methimazole-induced or secondary to heart failure?

Souto S B , Rodrigues P , Belo S , Nogueira C , Magalhaes A , Castedo J L , Carvalho-Braga D , Carvalho D

Methimazole-induced cholestatic jaundice is a rare adverse effect, dose-dependent, occurring within the first 3 months of use, usually reversible within 3 months after discontinuing drug therapy.Case report: Woman, 64 years, history of hyperthiroidism since August 2009, under therapy with methimazole 5 mg/day. The patient was referred to endocrinology department in March 2010, with history of heart failure, atrial fibrillation, type 2 diabetes mellitus, ...

ea0026p611 | Clinical case reports | ECE2011

Remind familial hypocalciuric hypercalcemia as a cause of elevated parathyroid hormone and serum calcium: 5 patients

Bonapart I E , Boumpaki A , Stamataki A

Introduction: Familial hypocalciuric hypercalcemia (FHH) is a benign disorder, with inappropriately elevated parathyroid hormone, without the complications of hypercalcemia (1). It is important to discriminate FHH from primary hyperparathyroidism (PHPT), because of the consequences on symptomatic disease and therapeutic approach. Ca/Cr clearance ratio will be <0.01 in FHH and most often >0.02 in PHPT (2). In patients with PHPT and vitamin D deficiency, low urinary calc...

ea0026p612 | Clinical case reports | ECE2011

Iatrogenic hypoadrenalism: a case report

Mesquita J , Varela A , Magalhaes A , Correia F , Carvalho D

Introduction: Psoriasis is a chronic skin disease with a prevalence of 0.6 to 4.8%. Among the possible treatments, we highlight topic corticosteroids that can cause not only different local side effects (skin fragility and atrophy, striae, purpura, acne, telangiectasia, hypertrichosis) but also systemic side effects, including diabetes mellitus (DM), hypertension (HT), Cushing’s syndrome and hypothalamic–pituitary–adrenal (HHA) axis suppression.<p class="abs...

ea0026p613 | Clinical case reports | ECE2011

Diabetes insipidus in the context of sarcoidosis: a case report

Mesquita J , Rodrigues P , Belo S , Sousa A , Varela A , Magalhaes A , Castedo J L , Melo N , Mota Patricia , Carvalho Davide

Introduction: Sarcoidosis is a systemic granulomatous disease of unknown etiology with a prevalence of 10–20/100 000 individuals and affects mainly young adults. Neurological involvement occurs in about 5% of the cases and it can affect the hypothalamic–pituitary axis. In this case, the most common endocrine manifestations are hyperprolactinemia and diabetes insipidus.Case report: A 44-year-old male patient complaining of not feeling well and d...

ea0026p614 | Clinical case reports | ECE2011

A case of small cell lung cancer of which first finding is hyponatremia

Tuzun Dilek , Oguz Ayten , Cuhaci Neslihan , Senturk Aysegul , Zengin Nurullah , Ersoy Reyhan , Cakir Bekir

Small cell lung cancer (SCLC) is accepted as a neuroendocrine tumor and usually accompanied with paraneoplastic syndromes. Our case has been diagnosed as SCLC and the only finding of disease was hyponatremia.Case: Forty-four-year of female patient has admitted because of nausea, vomitting and fatigue. Serum Na level was 116 mEq/l. The patient hospitalized for further investigation. In physical examination BP was 140/80 mmHg, HR was 72 beats/min. Patient ...

ea0026p615 | Clinical case reports | ECE2011

Evaluation of autoimmune endocrine disturbances in celiac patients

Oguz Ayten , Akin Ebru , Tuzun Dilek , Demirezer Aylin B , Ersoy Osman , Ersoy Reyhan , Cakir Bekir

Aim: Celiac disease is closely related with other autoimmune diseases. Our purpose is to examine the existence of endocrine diseases in Celiac patients.Materials and methods: Celiac patients admitted to gastroenterology clinic were referred to our endocrinology clinic between the dates of September of 2009 and June of 2010. This patient group was evaluated to see as if they had autoimmune thyroiditis, type 1 DM, primary hypoparathyroidism and primary adr...

ea0026p616 | Clinical case reports | ECE2011

Autoimmune polyglandular endocrinopathy associated with collagenous sprue: a case report

Inancli Serap Soytac , Ensari Arzu , Beyan Esin , Savas Berna , Abayli Ekrem

Introduction: Polyglandular autoimmune syndrome (PAS) is a syndrome that is characterized by the association of two or more organ specific autoimmune disorders. Collagenous mucosal inflammatory diseases involve the columnar-lined gastric and intestinal mucosa. The coexistence of the two disease has not been reported. We have encountered a patient with a rare combination of autoimmune thyroiditis, hypoparathyroidism, primary ovarian failure and collagenous sprue. To our knowled...

ea0026p617 | Clinical case reports | ECE2011

Iatrogenic lymphocytic hypophysitis

Shillo P , Evans R , Wright J , Price J Newell

A 61-year-old was diagnosed with CLL in 1986 but received no active treatment until 2006, when the WCC became elevated and bone marrow biopsy showed a dense B cell infiltrate. Despite initial treatment with chemotherapy there was disease progression, hence started on Alemtuzumab (Campath) on 24/5/2010. This was stopped on 18/6/2010 because of recurrent neutropenic sepsis. He was readmitted on 18/7/2010 because of left eye cellulitis and hyponatremic with serum sodium of 122 mm...

ea0026p618 | Clinical case reports | ECE2011

A rare cause of nontraumatic rhabdomyolysis: central diabetes insipidus

Tuzun Dilek , Oguz Ayten , Caner Sedat , Tam Ali A , Cuhaci Neslhan , Ersoy Reyhan , Cakir Bekir

Nontraumatic rhabdomyolysis is mostly caused by drugs, alcohol consumption or compression of muscles. Severe hyperosmolarity rarely can cause rhabdomyolysis. Our case has santral diabetes insipidus that has admitted with the clinical picture of rhabdomyolysis.Case: Twenty-six-years old male has admitted to our clinic with the complaint of weakness, nausea, vomitting, polydipsia, polyuria, difficulty in walking and tendency to sleep. Neurologic examinatio...

ea0026p619 | Clinical case reports | ECE2011

Our clinical experience in percutenous ethanol injection into cystic tyroid nodules

Cakir Bekir , Ucler Rifki , Arpaci Dilek , Balkan Fevzi , Dirikoc Ahmet , Ersoy Reyhan

Aim: Percutenous ethanol injection (PEI) is a minimally invasive method which can be preferred in treatment of cystic thyroid nodules. We have presented our cases of PEI below.Material and methods: We have performed PEI to 8 patients in our clinic. We have made ultrasound guided fluid aspiration from the cysts which were confirmed to be benign. We have injected ethanol (98%) into the pouche of the cyst in an amount that is 20–40% of the cystic fluid...

ea0026p620 | Clinical case reports | ECE2011

Two cases of allergic reactions which has developed due to usage of insulin analogues

Oguz Ayten , Inancli Serap , Kaya Gulfem , Polat Burcak , Metin Ahmet , Ersoy Reyhan , Cakir Bekir

We have presented two cases of allergic reactions developed due to usage of insulin aspart.Case 1: Forty-years-old female patient has admitted to emergency with diabetic ketoacidosis. Parenteral hydration with saline solution and insulin infusion has been given to her in ER. After ketoacidosis picture has improved, mixture of insulin asparte and insulin asparte protamine was started as maintenance therapy. After the application of second insulin dosage, ...

ea0026p621 | Clinical case reports | ECE2011

Sheehan’s syndrome primary presenting as central diabetes insipidus: case report

Rangel R , Borges A , Afonso A , Agapito A

Introduction: Sheehan’s syndrome is a rare cause of hypopituitarism secondary to an intra or postpartum severe bleeding. Manifestations are most often caused by deficiencies of hormones of anterior pituitary; involvement of posterior pituitary is rarely described.Case report: We report a case of a 45 years old hypertensive, multipara, premenopausal woman, who underwent fertilization by oocyte donation, that resulted in twin pregnancy. Preterm vagina...

ea0026p622 | Clinical case reports | ECE2011

Hepatic metastasis of parathyroid carcinoma: case report

Fonseca F , Narciso J , Agapito A , Gasparinho C , Guerra P , Coutinho J , da Costa C Gomes

Introduction: Parathyroid carcinoma is a rare cause of primary hyperparathyroidism. Initial complete surgical resection is crucial. Recurrence is common and primary cause of mortality is severe hypercalcemia.Clinical case: In 2006, a 51 years old male presented with multiple bone pain, anorexia and weight loss, calcium 11.7 mg/dl, PTH 189 pg/ml. Eight years before a diagnosis of atypical parathyroid adenoma was made after left inferior parathyroidectomy ...

ea0026p623 | Clinical case reports | ECE2011

IGF2 producing prostate tumour causing severe hypoglycaemia: case report

Barta Gy , Vadasz J , Krasznai G , Zalatnai A , Fink L

Introduction: The IGF1 and 2 are polypeptides that share structural similarities to insulin and affect carbohydrate metabolism mainly by activating the IGF1 receptor. We report a patient presenting with prostate tumour and severe hypoglycaemia.Case presentation: An 82-year-old male presented with frequent seizures and severe hypoglycaemia. Four year prior to the current presentation the patient had been diagnosed with prostate carcinoma, however, he refu...

ea0026p624 | Clinical case reports | ECE2011

17β-hydroxysteroid dehydrogenase type 3 deficiency: a new case of a rare disease with an uncommon gene mutation

Galdiero M , Vitale P , Cariati F , Grasso L F S , Cozzolino A , Simeoli C , Afeltra L , Piscopo C , Rossi R , Melis D , Alviggi C , Lombardi G , Colao A , Pivonello R

Deficiency of 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3), an enzyme converting androstenedione (A) to testosterone (T) in the Leydig cells of the testis, is a rare cause of autosomal recessive 46,XY disorders of sexual development (DSD). A 18-year-old phenotypically female patient presented with primary amenorrhea. She had deep voice, macrocephaly, broad forehead, enlarged nasal tip, macrostomia, facial acne, gynecomastia, left-convex dorsal scoliosis, hypopla...

ea0026p625 | Clinical case reports | ECE2011

Testicular microlithisis: how worried should we be?

Matos M J , Freitas P , Carvalho D

Introduction: Gynecomastia is a relatively common reason for consultation, with a high prevalence in the neonatal period, puberty and with aging. The diagnostic approach should be more thorough in normal-weight individuals with recent onset of gynecomastia, rapid growth of breast tissue, or in the setting of a large painful breast. Besides the evaluation of liver function, testosterone, estradiol, LH and β-hCG, testicular ultrasound evaluation is important to exclude test...

ea0026p626 | Clinical case reports | ECE2011

Virilizing ovarian steroid cell tumor: clinical case

Matos M J , Freitas P , Costa M A , Paiva V , Guimaraes M , Lopes J M , Carvalho D

Introduction: Androgen-producing tumors are a rare cause of hyperandrogenism (±0.2%). Ovarian steroid cell tumors represent <0.1% of all ovarian tumors. They may present at any age and in 12–50% of cases are associated with virilization. The majority of these tumors are benign or low-grade malignanies.Clinical case: A 74-year-old female patient, with history of vaginal hysterectomy for genital prolapse at the age of 50, is referred to Endoc...

ea0026p627 | Clinical case reports | ECE2011

Clinical, hormonal and cytogenetic evaluation of 46,XX male

Vetri M , Stancampiano A , Licciardello L

The XX male syndrome, also called ‘de la Chapelle syndrome’, has been renamed as ‘46, XX testicular disorder of sex development’ (DSD) in 2006. It occurs in about 1/20 000 male newborns. We describe a 57-years-old male who referred to our andrological outpatient clinic because of erectile dysfunction. He was a smoker and suffered from 15 years of type 2 diabetes mellitus; he was also carrying a euthyroid multinodular goiter. The physical examination include...

ea0026p628 | Clinical case reports | ECE2011

Five year follow-up of recurrent parathyroid carcinoma in a young man: a case report

Grigorie D , Ivan M , Ionescu M , Ghemigian M , Stanescu B , Ioachim D , Sucaliuc A , Diaconescu A

Introduction: Parathyroid carcinoma is a rare cause of pHPT – <1%.Case report: We report the case of a 25-year-old man who presented with acute severe hypercalcemia (19 mg/dl) and extremely high serum PTH (2737 pg/ml). He was initially treated with i.v. fluids, calcitonin and pamidronate and total calcium decreased to 12.7 mg/dl. A left lower parathyroidectomy (tumour with microvascular invasion and intact capsule) was performed with a prompt de...

ea0026p629 | Clinical case reports | ECE2011

Unexpected association: Turner syndrome and hypopituitarism: a case report

Cucu C , Poiana C , Hortopan D , Dumitrascu A , Popa O , Gurau S , Danciulescu R , Musat M

Introduction: Turner syndrome is a common cause of dwarfism and hypogonadism as is pituitary failure. However the association of the two is rarely thought and reported in the literature. We present two cases of women with hypogonadism diagnosed with Turner syndrome with various degrees of pituitary insuficiency.Case report: The first case presented at 16 years with secondary amenorrhea and showed slightly disharmonic dwarfism. A hypogonadotropic hypogona...

ea0026p630 | Clinical case reports | ECE2011

A rare variant of Wolfram syndrome with diabetic microvascular disease, hypergonadotropic hypogonadism and palmar fibromatosis: case report

Preda C , Gaspar I , Ungureanu M-C , Leustean L , Cristea C , Moisii L , Mogos V , Vulpoi C

Introduction: Wolfram syndrome, a very rare condition, is a neurodegenerative disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) which appear in childhood, hampering diagnosis and treatment. Others less frequent features as hypergonadotropic hypogonadism, microvascular disease and local fibromatosis are reported in a male patient diagnosed at the age of 18 years.Case report: An 18-year-old male patient d...

ea0026p631 | Clinical case reports | ECE2011

‘Uterine neuroendocrine tumour: an unusual cause of hyponatraemia’ and the role of tolvaptan, a vasopressin V2 receptor antagonist

Mlawa G , Price S , Fraser L , Green R , Turner B , Guy R

Background: Hyponatraemia is the commonest electrolyte abnormality in clinical practice, and may be a biochemical manifestation of different diseases including malignancy. About 14% of hyponatremia in medical inpatients is due to underlying tumour related conditions.We present a case of 68 years widow who was referred by her General Practioner with 3 weeks history of nausea, occasional vomiting, confusion, increased urinary frequency, and urinary inconti...

ea0026p632 | Clinical case reports | ECE2011

Diagnosis of Bruns–Garland syndrome in a patient with McArdle disease and type 2 diabetes mellitus

Martins Raquel , Neves Celestino , Vaz-da-Silva Manuel , Rodrigues Pedro , Belo Sandra , Jorge Georgina , Magalhaes Angela , Castedo Jose Luis , Carvalho Davide

Introduction: McArdle disease is a rare recessive disorder of glycogen metabolism, related to muscle phosphorylase deficiency. It usually presents in adolescence or early adulthood with muscle cramps, exercise intolerance, easy fatigability, and progressive weakness as glycogen is the primary source of energy for intense muscle activity. Few reports described the association of McArdle disease and type 2 diabetes and some authors suggested that hyperglicemia and hyperinsulinem...

ea0026p633 | Clinical case reports | ECE2011

Lower limb Merkel cell carcinoma with a single metastasis in a thyroid nodule

Martins R , Couto J , Santos A P , Ribeiro M , Giesteira L , Polinario A , Torres I

Introduction: Merkel cell carcinoma (MCC) is a rare, aggressive cutaneous malignancy, affecting predominantly caucasian and older individuals (slight male predominance). This neoplasm is associated with a high risk of local recurrence and regional lymph node involvement. Distant metastases are less frequent; they were described in liver, bone, CNS, skin, lung and spleen. The authors describe a clinical case of Merkel cell carcinoma with a single metastasis in a thyroid nodule....

ea0026p634 | Clinical case reports | ECE2011

An old story again with a new patient in modern world: acute adrenal insufficiency in a 51-year old man with vertebral tuberculosis

Anaforoglu Inan , Algun Ekrem , Incecayir Omer , Siviloglu Cigdem

Introduction: Tuberculosis is stil an important cause of adrenocortical insufficiency in the devoloping countries. Adrenal insufficiency is usually the result of hematogenous spread of the pulmonary tuberculosis. Adrenal tuberculosis, especially with enlargement of adrenal glands can cause diagnostic problems and requires differentiation from neoplastic disease and fungal infections. Tuberculosis osteomyelitis is a rare form and surgery may be needed. We report a patient with ...

ea0026p635 | Clinical case reports | ECE2011

A case of a parathyroid adenoma with Celiac disease: primary or quaternary hyperparathyroidism?

Anaforoglu Inan , Algun Ekrem , Ersoy Kerem

Introduction: Celiac disease (CD) is gluten sensitive enteropathy with a wide spectrum of severity. Iron deficiency, growth retardation, shortness, delayed puberty can be seen. Osteomalacia and hypocalcemia are results of malabsorbtion of vitamin D and calcium which may cause secondary hyperparathyroidism. In untreated cases for a long period, tertiary hyperparathyroidism can also be seen due to autonomy of parathyroid glands with chronic stimulation. There are some cases of p...

ea0026p636 | Clinical case reports | ECE2011

A case of congenital adrenal hyperplasia of 11β-hydroxylase deficiency presented with Addisonian crisis

Algun Ekrem , Anaforoglu Inan , Incecayir Omer

Introduction: Steroid 11β-hydroxylase deficiency is a relatively rare form of congenital adrenal hyperplasia characterized by the overproduction of adrenal androgens and deoxycorticosterone. It usually presents with virilization of the female fetus, precocious puberty in male infants and hypertension with or without hypokalemia in both genders. Because of high levels of mineralocorticoids, patients rarely present with Addisonian crisis. We describe a male patient with 11&...

ea0026p637 | Clinical case reports | ECE2011

Diabetes and A1C. How a hemoglobin variant affect A1C test: a case report

Alves M , Bastos M , Ribeiro M , Santos J , Vieira A , Gouveia S , Saraiva J , Carvalheiro M

Introduction: Glycated hemoglobin A1c (A1C) is used for diagnosis and monitoring diabetic patients. The precision of A1C assay methods is affected by the presence of hemoglobin variants. About 7% of world population is asymptomatic carrier of these variants.Case report: PCIMR, woman, 42 years old, caucasian, followed in consultation for obesity, primary hypothyroidism and bipolar disorder. Had family history of obesity and sudden death of her father at 5...

ea0026p638 | Clinical case reports | ECE2011

Hyponatremic coma with seizures as onset of isolated ACTH deficiency

Trifanescu R A , Stoicescu A , Caragheorgheopol A , Hortopan D , Coculescu Mihail

Introduction: Isolated acquired ACTH deficiency is rare; it may be due to hypophysitis and association with other autoimmune diseases was reported.Case report: E.L, female, aged 34, was diagnosed with primary autoimmune hypothyroidism and premature ovarian failure; levothyroxine and estroprogestins were administered. Suddenly, the patient developed vomiting, shivers without fever and soon coma installed, with tonic-clonic seizures. There was no history o...

ea0026p639 | Clinical case reports | ECE2011

GH in Prader–Willi syndrome: to treat or not to treat

Vulpoi C , Rusu C , Boisteanu D , Vasiliu I , Idriceanu J , Balcan R , Potorac I , Mogos V

Introduction: Prader–Willi (PWS) is a complex genetic syndrome characterized by dysmorphic features, hypotonia, mental retardation, behavioral abnormalities, hyperphagia with progressive obesity, and endocrine dysfunctions as hypogonadism and GH deficiency. GH treatment is recommended, the major concern being aggravation of sleep apnea.Cases report: We present 2 cases with specific clinical features and genetically confirmed PWS (del 15 q11.2–q...

ea0026p640 | Clinical case reports | ECE2011

Subacute onset in severe Riedel thyroiditis associated with hypoparathyroidism and left recurrent palsy

Verzea-Jercalau Simona , Stanescu Bogdan , Badiu Corin

A 42-years woman presented with hypothyroidism, a large, firm, irregular goiter, severe cervical and preauricular pain, 2 weeks after an episode of respiratory infection. Laboratory findings certified subacute thyroiditis and autoimmune hypothyrodism: TSH>50 μUI/ml, FT4=6.5 pmol/l, ATPO>1000 U/ml, ATGL>1000 U/ml, ESR=115 mm/1 h. Thyroid ultrasound showed hypoechogenic pattern with a nodule on the right lobe and low Doppler signal. Fine needle aspira...

ea0026p641 | Clinical case reports | ECE2011

Multiple pituitary deficiencies in a young patient with primary empty sella

Rusu A , Cristea C , Gheorghiu L , Balcan R , Mogos V

Introduction: Usually, the hormonal profile is normal in patients with empty sella. However, when present, hormonal deficiency most commonly consist in growth disturbance in children and mild hyperprolactinaemia in adults. Hypopititarism with signs of symptomatic dysfunction occurs in <10% of patient with primary empty sella.Case report: A 27-years-old man presented to our department in 2008 with impuberism, micropenis, hypoplasic scrotum, inguinal g...

ea0026p642 | Clinical case reports | ECE2011

Giant invasive macroprolactinoma

Alves M , Neves C , Pereira J , Bastos M Ayres , Bernardes I , Carvalho-Braga D , Carvalho D

Background: Apart from signs of hyperprolactinaemia, patients with macroadenomas with extrasellar extension generally seek medical attention due to mass effect. Macroprolactinomas, particularly in men, may occasionally exhibit a very aggressive clinical course.Case report: Male 37 years old that went to a Neurology consultation complaining of progressively more frequent self-limiting episodes of restraint, silence and time and space disorientation in the...

ea0026p643 | Clinical case reports | ECE2011

Bexarotene associated dyslipidaemia and central hypothyroidism in a patient with Sézary syndrome

Alves M , Neves C , Azevedo F , Correia O , Carvalho-Braga D , Carvalho D

Background: Sézary syndrome (SS) is a more aggressive leukemic variant of cutaneous T-cell lymphoma (CTCL). Bexarotene (Targretin) is a synthetic rexinoid analogue designed for the treatment of advanced stages of cutaneous manifestations of CTLC. Bexarotene selectively suppresses thyrotropin secretion and up to 40% of patients develop reversible idiopatic central hypothyroidism. Severe mixed dyslipidemia may be present in up to 70%.Case report: Seve...

ea0026p644 | Clinical case reports | ECE2011

Diffuse nodular hyperplasia of the adrenal cortex in a patient with renal cysts

Michou A , Kostoglou-Athanassiou I , Chronaiou A , Tagara S , Trianti V , Stefanaki A , Karagianni O , Karfi A

Nodular hyperplasia of the adrenal as a cause of Cushing’s syndrome is rare. Adrenal tumors, frequently causing syndromes such as hyperaldosteronism due to autonomous hormone secretion, have been described in patients with renal cysts. The aim was to describe the case of a female patient with diffuse adrenal hyperplasia, subclinical Cushing’s syndrome and renal cysts.A female patient aged 69 years presented with hyperplasia of the right adrenal...

ea0026p645 | Clinical case reports | ECE2011

A case of polymyositis and vasculitis induced by ovulation induction therapy with GnRH: case report

Petrikova J , Figurova J , Svajdler M , Lazurova I

Background: GnRH is the first key hormone of reproduction. GnRH analogs are extensively used in IVF, and treatment of sex hormone-dependent cancers due to ability to bring about ‘chemical castration’. Recent studies have demonstrated that GnRH and sex steroids exert not only hormonal effects but play an important role in the immune system modulation.Case report: We report a case of vasculitis and severe polymyositis developed 5 days after GnRH ...

ea0026p646 | Clinical case reports | ECE2011

Diabetes insipidus in a patient with breast carcinoma

Couto J , Santos A P , Martins R , Giesteira L , Torres I

Introduction: Central diabetes insipidus (CDI) is characterized by a deficient secretion of anti-diuretic hormone (ADH), in which a large volume of hypotonic urine is eliminated. Pituitary metastatic disease is rare, accounting for 1% of all excised pituitary tumors and generally involves the posterior pituitary. Neoplasms that more often originate pituitary metastases are breast and lung cancer. Breast cancer (BC) is associated with pituitary secondary involvement in 5.3 to 2...

ea0026p647 | Clinical case reports | ECE2011

Ovarian hyperthecosis with type 2 diabetes mellitus and severe insulin resistance in postmenopausal woman

Gavan Vadim , Caragheorgheopol Andra , Vaduva Adrian , Poalelungi Crsitian , Lichiardopol Radu , Badiu Corin

Introduction: Ovarian hyperthecosis is a rare cause of severe hyperandrogenism. Unlike PCOS, it is also described in postmenopausal women.We report the case of a 67-year-old obese (BMI=37.5 kg/m2) and dyslipidemic woman, gravid 5 para 3, menopause at 49, with poor controlled type 2 diabetes mellitus (HbA1c=10%). She was in treatment with insulin for the last 12 years, currently on 168 U/24 h (1.71 U/kg)- indicating severe insulin resistance, c...

ea0026p648 | Clinical case reports | ECE2011

How differentiated can a poorly differentiated thyroid cancer be? A rare case presenting with hyperthyroidism and secondary adrenal insufficiency

Melo M , Carrilho F , Ribeiro C , Carvalheiro M

Introduction: Poorly differentiated thyroid cancers are usually aggressive tumors that lack many of the characteristics of differentiated thyroid tissue, including the ability to uptake and process iodine.Case report: A 75-year-old male presented with weight loss, tiredness, asthenia, tremor, increased perspiration, tachycardia and bone pain in several locations. A hard and fixed thyroid nodule was palpable in the left lobe (FNA-«follicular tumor&#1...

ea0026p649 | Clinical case reports | ECE2011

HDR syndrome or Barakat syndrome

Stefanopoulos D , Kostoglou-Athanassiou I , Vassiliou G. , Tzioras K , Vryonidou A , Karfi A

HDR syndrome (hypoparathyroidism, deafness, renal dysplasia syndrome) is a rare clinical entity, which includes the simultaneous presence of hypoparathyroidism, sensorineural deafness and renal dysplasia. It is due to mutations of GATA3 gene in XP.10p and is inherited with the autosomal dominant type.The aim was to describe the case of a patient with clinical symptoms and laboratory and imaging findings compatible with HDR or Barakat syndrome.<p clas...

ea0026p650 | Clinical case reports | ECE2011

Coincidental presence of acromegaly and nonclassical congenital adrenal hyperplasia in a patient with hirsutism: a case report

Gedik Arzu , Muhittin Yalcin Mehmet , Comlekci Abdurrahman

Hirsutism, development of terminal body hair in women in unexpected areas, may result from different etiologies; 4.3% being nonclassical congenital adrenal hyperplasia (NCCAH) and acromegaly being one of the rarests. We here present a severe hirsutism case with acromegaly and NCCAH.Case: A 30-year-old woman with headache and visual field abnormalities was consultated by our clinic about her cranial imaging revealing a macroadenoma in pituitary localizati...

ea0026p651 | Clinical case reports | ECE2011

Adrenal rest in a patient with late onset 21-hydroxylase deficiency

Chronaiou A , Kostoglou-Athanassiou I , Michou A , Kotanoglou S , Vassiliou G , Tzioras K , Loi V , Karfi A

Adrenal rests, nodules of the adrenal, in patients with chronic elevation of ACTH levels have been previously described.The aim was to describe the case of a patient with an adrenal tumor and late onset 21-hydroxylase deficiency.A female patient, aged 76 years, presented with an incidentally discovered mass of the left adrenal measuring 1.2 cm. The patient was short with a height of 152 cm. Morning serum ACTH levels were 31 pg/ml, ...

ea0026p652 | Clinical case reports | ECE2011

Long term evolution of a coincident ACTH-dependent and independent Cushing’s syndrome

Nogueira Claudia , Vinha Eduardo , Pereira Josue , Bernardes Ines , Gomes Taveira , Pardal Joana , Bettencourt Herberto , Carvalho Davide

Introduction: The coexistence of Cushing’s disease with an ACTH-secreting adrenal adenoma is not frequent.Case report: A 32-year-old woman was observed in our Department in 2000 for obesity. Hypercortisolism was documented and the basal hormonal study and functional testing oriented towards a pituitary origin (ACTH 24.8 pg/ml). Pituitary magnetic resonance imaging (MRI) showed an asymmetric pituitary gland and a pituitary stalk deviation to the left...

ea0026p653 | Clinical case reports | ECE2011

Maltose interference in the determination of blood glucose levels by test strips based on glucose dehydrogenase-PQQ method: a case report

Belo S , Rodrigues P , Alves M , Neves C , Magalhaes A , Carvalho D

Background: The different systems for monitoring capillary blood glucose levels may suffer interference from various substances.Case report: Male patient, 48 years old, with history of hypertension, dyslipidemia and previous smoking. He presented also type 1 diabetes mellitus, with 37 years of progress, with diabetic retinopathy, kidney failure, in peritoneal dialysis since 2009, and ischemic heart disease (myocardial infarction in 2005). He was treated ...

ea0026p654 | Clinical case reports | ECE2011

Type II polyglandular syndrome: a case report

Belo S , Magalhaes A , Carvalho D

Introduction: The combination of two or more, autoimmune, endocrine dysfunctions defines the presence of polyglandular syndromes.Case report: Female patient, 43 years old, history of type 1 diabetes for 23 years and autoimmune hypothyroidism for 7 years, with no other relevant clinical history and without family history of autoimmune endocrinopathies. She was under therapy with insulin and levothyroxine. She came into the Endocrinology Department in May ...

ea0026p655 | Clinical case reports | ECE2011

Impact of two novel mutations of calcium sensing receptor (CaSR) gene on calcium metabolism: two clinical case reports

Livadariu Elena , Auriemma Renata Simona , Rydlewski Catherine , Vandeva Silvia , Thonnard Anne Sophie , Betea Daniela , Daly Adrian F , Beckers Albert

Disorders of calcium metabolism arise in a familial or sporadic setting. The resulting hypo- or hypercalcemia can induce serious clinical features. Calcium sensing receptor (CaSR) plays a key role in maintaining this balance and its molecular investigation is useful to determine the nature of a certain condition or to choose the appropriate therapeutic approach.In the present study we reported two clinical cases. A 16-year-old patient had a mild hypercal...