Searchable abstracts of presentations at key conferences in endocrinology

ea0044p159 | Neuroendocrinology and pituitary | SFEBES2016

Dynamic hormonal diagnostics of acromegaly and Cushing’s disease

Simunkova Katerina , Russel Georgina , Upton Thomas , Husebye Eystein , Methlie Paal , Lovas Kristian , Lightman Stafford

Pituitary and adrenal gland assessment, is one of the most important aspects of the management of a pituitary and adrenal adenoma.Clinical practice varies widely with regard to assessment of pituitary and adrenal status pre- and post-operative. Pre-operative testing includes dynamic testing to assess function which is not practical in the immediate post-operative period. Instead a single morning serum total hormones are measured while a more definitive a...

ea0032p644 | Male reproduction | ECE2013

Endocrine disruptors target ATP binding cassette transporters in the blood–testis barrier and impair Leydig cell steroidogenesis

Roelofs Maarke J E , Dankers Anita C A , Piersma Aldert H , Russel Frans G M , van den Berg Martin , Masereeuw Rosalinde , van Duursen Majorie B M

Efflux transporters in the blood–testis barrier (BTB) prevent entry and accumulation of xenobiotics in testis but are also involved in local transport of steroid hormones. Among these are the ATP-binding cassette (ABC) transporters, P-glycoprotein (P-gp/ABCB1) and multidrug resistance proteins 1 (MRP1/ABCC1) and 4 (MRP4/ABCC4). Here, we studied the interaction of suggested endocrine disruptors (EDCs) bisphenol A (BPA), tetrabromobisphenol A (TBBPA), bis(...

ea0021p223 | Endocrine tumours and neoplasia | SFEBES2009

Open or laparoscopic surgery for phaeochromocytoma

Ezzat Tarek , Skipworth James , Raptis Dimitris , Conway Gerard , Baldweg Stefie , Bomanji Jamshed , Bouloux Pierre , Rolles Keith , Khoo Bernard , Hyatt Penny , Rossi Michaela , Barnard Maria , Anthony Karen , Stojanovic Nemanja , Cohen Mark , Katz Jonathan , Baynes Christopher , Russel Sabina , Ahlquist James , Kurzawinski Tom

Background: Surgical resection is the treatment of choice for phaeochromocytomas. Introduction of laparoscopic adrenalectomy (LA) led to a reduction in the number of open adrenalectomies (OA); however, there is limited information comparing the two techniques.Objectives: We report here a comparison of LA and OA operations for phaeochromocytoma performed over 20 years.Methods: We performed a retrospective review of all patients unde...

ea0022p215 | Clinical case reports and clinical practice | ECE2010

The etiologic profile of short stature in the south west of Romania between 2004-2009

Marginean Otilia , Simedrea Ioan , Bucuras Dana , Pavel Ecaterina , Craciun Adrian , Maris Ioana , Daescu Camelia

Background: Short stature can be a sign of a wide variety of pathologic conditions or inherited disorders.Aim: To show the etiology of short stature in our region in order to asses the rationale treatment and genetic advice.Material and methods: Between January 2004 and December 2009, we have studied the prevalence and etiologic profile of the children admitted in the Endocrinology Department of Children’s Clinical Hospital Ti...

ea0077lb58 | Late Breaking | SFEBES2021

Silver Russell syndrome – Rare case of sibling

Toubal Sarah Rachida , Beddar Wiam , Boudiaf Dia Edine , Fedala Nora Soumeya , Haddam Ali El Mehdi

Silver-Russell syndrome (SRS) is a rare syndrome. It was first reported by Silver, Russel and al, who described children with low birth weight, postnatal statural delay, peculiar facies and asymmetry of the body. We report the case of two sibling children born to non-consanguineous parents, admitted to our level for the exploration of severe staturo-weight retardation in relation to marked intrauterine growth retardation. The first child is a 04-year-old girl, born at term. It...

ea0014p402 | (1) | ECE2007

Marginal periodontal pathology in patients with pituitary disorders

Duncea Ileana , Georgescu Carmen , Duncea Ioana

Periodontal changes are induced by hormonal alterations through soft tissue oedema, inflammation, demineralization or abnormal periosteal development of the alveolar bones.Objectives: The purpose of the present work was to evaluate the frequency, severity and type of periodontal disease in subjects with previously diagnosed and non-treated pituitary disorders.Patients and methods: Twenty-five subjects (21 women and 4 men) aged 44.7...

ea0095p73 | Pituitary and Growth 1 | BSPED2023

Significance of targeted gene panel sequencing in early childhood growth failure

Edavana Shaju , Kumbattae Uma , Hawkes Emma

Early childhood growth failures are associated with significant diagnostic and therapeutic implications. Testing for a panel of genes associated with a poor growth has identified a diagnosis of 3M syndrome. Index case was born at 36 weeks’ gestation with a birth weight of 1.88 kg (>2nd centile) and length 40 cm (<0.4 the centile) with head circumference 45 cm on 50th centile. Her initial assessment noted severe intrauterine growth retardation pattern. She had norm...

ea0063p1017 | Interdisciplinary Endocrinology 2 | ECE2019

Diagnosis announcement procedure in rare endocrine diseases: a survey of the French National Healthcare Network for Rare Endocrine Diseases (FIRENDO)

Layachi-Rahabi Haifa , Givony Maria , Demaret Beatrice , Brun Philippe , Aubron Marie-Reine , Bartes Beate , Bernard Lucie , Victor Amelie , Dujardin Veronique , Lancon Catherine , Perrotin Benedicte , Picard Virginie , Bouazza Naim , Abdoul Hendy , Malivoir Sabine , Ribeiro Murielle , Netchine Irene , Drui Delphine , Reynaud Rachel , Tardy Guidollet Veronique , Bertherat Jerome , Colin Claudine , Brue Thierry

Context: Diagnosis announcement of a chronic disease is a crucial moment for patients as well as for their families and an important step of the management of severe conditions like rare endocrine diseases. It is considered as an ‘eternal minute’, marking the end of a time of life when the disease was absent. Little is known on how diagnosis is communicated to patients and families. FIRENDO as defined by the National Plan for Rare Diseases aims at promoting education...