Searchable abstracts of presentations at key conferences in endocrinology

ea0049ep319 | Clinical case reports - Thyroid/Others | ECE2017

Congenital fibrous dysplasia and Klinefelter syndrome: coincidence or not?

Grama Maria Alexandra , Dumitrache Constantin

Congenital fibrous dysplasia is a rare disease with a broad spectrum of manifestations, including various endocrinopathies;precocious puberty, hyperthyroidism, excess growth hormone, hypophosphatemia mediated by FGF23.We present the case of a 33 year old male, who presented in our endocrinology service with infertility and bone pain. He was diagnosed at the age of years old with congenital fibrous dyplasia and suffered multiple surgeries for bone decompr...

ea0022p441 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Metastatic mammary carcinomas with neuroendocrine features- a case report

Brehar Andreea , Bulgar Alexandra , Dumitrache Constantin

Mammary carcinomas with endocrine differentiation are an uncommon subtype of breast carcinomas that are morphologically indistinguishable from low-grade endocrine neoplasm arising in other organs.Neuroendocrine cells are present in mammary tissue. Neuroendocrine differentiation can be found in benign and malign lesions of various organs. Recent studies have reported the existence of neuroendocrine differentiation in breast carcinomas as being between 3% ...

ea0016p426 | Neuroendocrinology | ECE2008

Enos, P22phox and apoE gene polymorphism associations with circulating hormone levels in the elderly

Ianas Olga , Manda Dana , Heltianu Constantina , Sima Anca , Raicu Monica , Covic Marcela , Dumitrache Constantin

Objective: The aim of this study was the identification of eNOS (G894T), p22phox (−930 A/G) and apoE gene polymorphisms associated with the impact of age-dependent endocrine changes.Subjects and methods: Subjects, both genders, were recruited and classified into the three groups: (1) 100 subjects aged 55–80+ years with mild cognitive impairment (MCI) (MMSE<28); (2) 165 age-matched subjects without cognitive impairment (MMSE>...

ea0026p110 | Female reproduction | ECE2011

MTHFR mutations in female patients with autoimmune thyroiditis

Bulgar Alexandra , Brehar Andreea , Paun Diana , Dumitrache Constantin

Introduction: Methylenetetrahydrofolate reductase (MTHFR) is a key regulatory enzyme involved in folate and homocysteine metabolism. The enzyme is encoded by a gene located on chromosome 1p36.3. MTHFR mutations frequently met in the population are C667T and A1298C. The impairment of homocysteine metabolism due to MTHFR gene polymorphism influences the risk for diseases such as CVS diseases, certain types of cancer and is associated with certain complications of pregnancy inclu...

ea0022p76 | Bone/Calcium | ECE2010

Osteomalacia: important cause of bone loss in a patient with inflamatory bowl disease: case report

Ghemigian Adina , Popescu Irina , Petrova Evghenia , Neacsu Elena , Dumitrache Constantin

Bone densitometry (DEXA) is the best method available today for diagnosing low bone density. However, DEXA is not able to differentiate osteoporosis from osteomalacia. The definitive diagnosis of osteomalacia is made by bone biopsy – rarely used in medical practice – which shows excess unmineralized bone. Tests of blood and urine may also be helpful: concentration of serum and urinary calcium and phosphorus, 25-hydroxyvitamin D and parathyroid hormone b...

ea0022p179 | Clinical case reports and clinical practice | ECE2010

Screening for nutritional status in the elderly

Popescu Irina , Ghemigian Adina , Petrova Evghenia , Dumitrache Constantin

The population of the world is aging and is estimated that by 2030 – 21% of global population will be aged 65 years and older. At present, under-nutrition in older people is a serious and growing global problem affecting even developed countries. As one ages, several physiological and pathlogical changes may contribute towards the development of protein energy malnutrition. This syndrom brings with it many adverse health outcomes and a significant cost to the individual, ...

ea0016p325 | Endocrine tumours | ECE2008

Mutations in the ret proto-oncogene in Romanian patients with multiple endocrine neoplasia type 2

Paun Diana , Duta Carmen , Mohora Maria , Dogaru Cristian , Dumitrache Constantin

Multiple endocrine neoplasia (MEN) is characterized by the occurrence of tumors involving two or more endocrine glands; MEN 2 is defined by medullary thyroid carcinoma in association with phaeochromocytoma and appears in several clinical variants, which may be inherited as autosomal dominant syndromes. Mutational analysis of RET protooncogene has been use in the diagnosis and management of patients and families with MEN 2 variants.Aim: In this study, we ...

ea0005p227 | Steroids | BES2003

The 5' untranslated region of the rat glucocorticoid receptor contains elements important for cell-specfic promoter activity and glucocorticoid regulation

Munn H , Lyons V , McCormick J , Seckl J , Chapman K

Cellular sensitivity to circulating glucocorticoids is critical and is principally determined by the level of glucocorticoid receptor (GR). GR expression is most potently regulated by glucocorticoids themselves, although the mechanism is unknown. The rat GR gene encodes at least eleven alternate and untranslated exons 1, eight of which lie in a 3kb CpG island close to exon 2. We have recently shown that individual exons 1 are subject to tissue specific expression and regulatio...

ea0041ep129 | Bone &amp; Osteoporosis | ECE2016

Adrenal tumors in menopause: bone assessment

Ghemigian Adina , Carsote Mara , Dumitrascu Anda , Dumitru Nicoleta , Valea Ana , Voicu Gabriela , Dumitrache Constantin

Introduction: Menopause correlates endocrine dysfunctions; whether an adrenal incidentaloma represents one of these it is difficult to establish since an age-dependent pattern of incidence has been described. Bone assays are necessary according to years since last menstruation but also if persistent hypercortisolemia is confirmed.Aim: This is a series of cases incidentally found with an adrenal tumor (AT) and osteopenia while evaluation of their menopaus...

ea0037ep1109 | Endocrine tumours | ECE2015

Papillary thyroid carcinoma in a patient with MEN 1 syndrome

Dumitru Alina , Paun Diana , Dragomir Adina , Nistor Mihaela , Taujan Georgiana , Dumitrache Constantin

Introduction: MEN1 is a rare syndrome characterised by hyperplasia or neoplasm of the parathyroid glands, pituitary, pancreas or duodenum and can associate, less frequently, phaeochromocytoma, thymic or bronchial carcinoids, multiple lipomas, cutaneous angiofibromas and thyroid adenomas.Case report: A 47-year-old woman with MEN1 presenting parathyroid recurrent adenomas, a pituitary prolactin-growth hormone cosecreting macroadenoma, associated with an in...