Searchable abstracts of presentations at key conferences in endocrinology

ea0037ep907 | Thyroid cancer | ECE2015

Wide screening of RET proto-oncogene in Iranian medullary thyroid carcinoma patients: 13 years study

Hedayati Mehdi , Yeganeh Marjan Zarif , Sheikholeslami Sara , Azizi Fereidoun

Introduction: Thyroid cancer is the most common endocrine cancer and medullary thyroid carcinoma (MTC) is one of the most malignant thyroid tumours which occur in both hereditary (25%) and sporadic (75%) forms. Mutations of the RET proto-oncogene in MTC development have been well demonstrated. The aim of the study was to investigate the mutational spectrum of exons 3, 5, 8, and 10–18 of RET proto-oncogene in MTC patients.Material and methods: This r...

ea0035p750 | Obesity | ECE2014

Leptin evolution in Aves

Yosefi Sara , Shinder Dmitry , Hen Gideon , Shirak Andre , Serussi Eyal

The discovery of leptin in 1994 has opened a new era in the study of energy balance control at the molecular level. By informing the brain and other tissues the state of fat stores, leptin plays a key role in the control circuits of both appetite and energy expenditure, thus affecting most if not all of the body’s activities. This discovery in mammals stimulated a great interest in the physiological role and molecular mechanism of leptin in chickens. However, a true chick...

ea0070aep537 | Endocrine-related Cancer | ECE2020

Pheochromocytoma due to TMEM127 mutation – the importance of genetic test for clinical decision

Paredes Silvia , Lopes Sara , Torres Isabel , Alves Marta

Background: Catecholamine-secreting tumors that arise from chromaffin cells of the adrenal medulla and the sympathetic ganglia are respectively referred to as pheochromocytomas and paragangliomas. The classic triad of symptoms in patients with pheochromocytoma (PHEO)consists of episodic headache, sweating, and tachycardia. Approximately one-half have paroxysmal hypertension; the rest have either primary hypertension or normal blood pressure. Clinicians should always consider P...

ea0070aep843 | Reproductive and Developmental Endocrinology | ECE2020

Hyperandrogenism in a postmenopausal woman secondary to an androgen secreting steroid cell tumor of the ovary

Bastos Filipa , Franco Sara , Ferreira Ana , Manita Isabel , Portugal Jorge

Introduction: Androgen secreting neoplasms of the ovary are rare and usually show autonomous secretion. Steroid cell tumors of the ovary represent less than 0.1% of all ovarian tumors and are a subgroup of sex cord-stromal tumors. In most cases, patients present with androgenic clinical features.Case report: A 58-year-old woman complained of rapid onset of androgenic alopecia, excessive hirsutism and clitoromegaly. Endocrine assessment showed high levels...

ea0070ep35 | Adrenal and Cardiovascular Endocrinology | ECE2020

Mediastinal malgnant paraganglioma: An atypical presentation

Pinheiro Sara , Damasio Ines , Nunes da Silva Tiago , Leite Valeriano

Introduction: Mediastinal paragangliomas are rare. These tumours can be associated with increased morbidity and mortality when invasive growth to the heart, great vessels, esophagus and trachea occurs. Surgical resection, if feasible, is the treatment of choice.Case report: A 50-year-old man presented with severe and refractory left gluteal pain radiating to the posterior thigh for two months. The patient had no relevant medical history and no other symp...

ea0070ep66 | Bone and Calcium | ECE2020

Fahr syndrome: About a case

Ijdda Sara , Rafi Sana , El Mghari Ghizlane , El Ansari Nawal

Introduction: Fahr syndrome is a rare disease, characterized by bilateral and symmetrical intracerebral calcifications, localized in the central gray nucleus and by the classic association with hypoparathyroidism. We report a case of Fahr syndrome associated with postoperative hypoparathyroidism.Case report: A 58 year old female patient with a history of total thyroidectomy 18 years ago. She complained of chronic paresthesia, muscle cramps complicated so...

ea0070ep142 | Diabetes, Obesity, Metabolism and Nutrition | ECE2020

The impact of fasting during ramadan on the sleep 9 wake rhythm in type 2 diabetics

IJdda Sara , RafiI Sana , Elmghari Ghizlane , Elansari Nawal

Introduction: Fasting during Ramadan is a pillar of Islam. The majority of diabetic patients at risk, practice it even if they are exempt. This practice shifts energy and hydration in the evening and reverses the sleep–wake rhythm. The aim of this work is to study the effect of fasting during the holy month on the sleep–wake clock in fasting diabetics.Patients and Methods: As part of an overall management of accompagnimant for our diabetic pa...

ea0070ep576 | Hot topics (including COVID-19) | ECE2020

Challenges in hyponatremia etiology and management in a child with a suprasellar tumour

Donato Sara , Figueiredo Ana , Simões-Pereira Joana

Introduction: Hyponatremia is the most common hydroelectrolytic disturbance in clinical practice. Multiple causes exist for its occurrence, being the etiological diagnosis sometimes complex. In patients with suprasellar tumours it is even harder due to several confounding factors. Management of these patients is difficult as it conflicts with chemotherapy-associated hyperhydration protocols. We present a case that exemplifies this.Clinical case: Four yea...

ea0070ep589 | Hot topics (including COVID-19) | ECE2020

Serious progressive risk of Basedow’s disease: Thyroid storm

Ijdda Sara , Sana Rafi , EL Mghari Ghizlane , EL Ansari Nawal

Introduction: Thyroid storm is an acute exacerbation of hyperthyroidism, responsible for significant mortality despite treatment.Case report: We report the observation of a 43-year-old diabetic patient with basedow’s disease with poor therapeutic adherence; admitted for convulsions and loss of consciousness. The diagnosis of acute thyroid storm on drop out of treatment was mentioned, in front of the detection of peripheral hyperthyroidism with low ...

ea0032p511 | Endocrine tumours and neoplasia | ECE2013

Investigation of novel chemotherapeutic combinations in a tumor model for adrenocortical carcinoma

Jung Sara , Hantel Constanze , Mussack Thomas , Reincke Martin , Beuschlein Felix

Medical treatment of adrenocortical carcinoma (ACC) is limited to common cytotoxic agents, which are usually given in combination with mitotane (M). Recently, we investigated together with M the effects of i) the classical EDP protocol (etoposide, doxorubicin, and cisplatin) and ii) a novel paclitaxel containing scheme PDP (paclitaxel, doxorubicin, and cisplatin) on human NCIh295 cells indicating anti-tumoral superiority of PDP-M over EDP-M regarding cell viability (P...