Searchable abstracts of presentations at key conferences in endocrinology

ea0081p419 | Pituitary and Neuroendocrinology | ECE2022

Obstructive sleep apnea syndrome (OSAS) in acromegaly: does the gender matter?

Pio Giacomo , Feola Tiziana , Rostomyan Liliya , Vitrani Giuseppe , Petrossians Patrick , Beckers Albert , Romigi Andrea , Jaffrain-Rea Marie-Lise

Obstructive sleep apnea syndrome (OSAS) is a frequent cardiovascular risk factor in acromegaly. We aimed to retrospectively evaluate sex-related differences in OSAS characteristics and indications of non-invasive ventilation.Patients and Methods: Thirty-nine adult patients (16 F, 23 M) from two European centers were studied by home sleep apnea test (HSAT) or polysomnography (PSG). OSA was defined by an apnea-hypopnea index (AHI) ≥5/h and analyzed a...

ea0063p312 | Reproductive Endocrinology 1 | ECE2019

Normosmic hypogonadotropic hypogonadism associated with a novel TACR3 mutation

Valdes-Socin Hernan , Libioulle Cecile , Lebrethon Marie Christine , Corman Vinciane , Debray Francois Guillaume , Dideberg Vinciane , Beckers Albert

Introduction: Neurokinin B (NKB) is a neurotransmitter, regulating GnRH. NKB activates its receptor TACR3. Recessive mutations of TACR3 are associated with a phenotype of normosmic hypogonadism.Case report: A 17 years old man born in Turkey, present with pubertal delay. He is treated 3 years with testosterone and he is reevaluated without treatment. He is 1.79 m and 1.85 arm span, testicular volume: 3 and 4 ml. He has no olfactory troubles. Testosterone ...

ea0041ep615 | Endocrine tumours and neoplasia | ECE2016

Genetic predisposition to breast cancer occurring in a male-to-female transsexual patient

Potorac Iulia , Corman Vinciane , Manto Florence , Dassy Sarah , Segers Karin , Thiry Albert , Bours Vincent , Daly Adrian F , Beckers Albert

Introduction: Breast cancer affects less than 1% of all male cancer patients. In 5–20% of cases, genetic predisposition is involved, mostly due to mutations of the BRCA2 gene. Hormonal imbalance between oestrogens and androgens is another predisposing factor. Male-to-female (MtF) transsexual patients usually undergo long-term cross-sex hormone therapy, which could expose them to higher risks of developing hormonally-dependent cancers.We rep...

ea0041ep889 | Pituitary - Clinical | ECE2016

Combined treatment with octreotide LAR and pegvisomant in patients with gigantism – acromegaly: clinical evaluation and genetic screening

Rostomyan Liliya , Mangupli Ruth , Castermans Emilie , Caberg Jean-Hubert , Camperos Paul , Cuauro Elvia , Bours Vincent , Daly Adrian F , Beckers Albert

Pituitary gigantism is a rare condition caused by growth hormone secreting lesions, where treatment is usually challenging, especially in cases with genetic predisposition. Aim: We studied a gigantism cohort from Venezuela for genetic defects and their response to treatment. Subjects: 160 somatotropinoma patients were evaluated at the University hospital (from 1985–2015); eight (6M) were diagnosed with acrogigantism and underwent genetic analysis including aCGH for Xq26.3...

ea0040oc7 | (1) | ESEBEC2016

Bifocal intracranial germinoma presenting as adipsic diabetes insipidus

Potorac Iulia , Kreutz Julie , Bonneville Jean-Francois , Lutteri Laurence , Martin Didier , Tshibanda Luaba , Daly Adrian F , Beckers Albert

Introduction: Intracranial germ-cell tumors (GCT) are rare, occurring in less than 4% of pediatric patients. Histologically, they are divided into several types, among which germinomatous GCTs represent over 50% of cases. Depending on their location, GCTs usually present with symptoms of intracranial hypertension for pineal lesions, whereas suprasellar ones lead to visual disturbances or pituitary hormonal defects.We present the case of a bifocal intracr...

ea0035oc6.5 | Bone, calcium & vitamin D | ECE2014

The effect of recombinant human parathyroid hormone, rhPTH(1–84), on vitamin D metabolism and phosphate homeostasis: Results from phase III 24-Week REPLACE and phase I clinical studies

Brandi Maria Luisa , Beckers Albert , Vokes Tamara , Mannstadt Michael , Bilezikian John , Clarke Bart , Lagast Hjalmar , Shoback Dolores

PTH promotes conversion of 25-hydroxyvitamin D (25[OH]D) to 1,25-dihydroxyvitamin D (1,25[OH]2D), thus stimulating intestinal calcium and phosphate absorption. Because of low PTH levels in hypoparathyroidism, patients are prescribed calcitriol. Patients are predisposed to hyperphosphatemia owing to loss of PTH-stimulated phosphate excretion by the kidneys. Effects of rhPTH(1–84) on vitamin D metabolism and serum phosphate were studied.In ...

ea0032p35 | Adrenal cortex | ECE2013

A national survey on the prevalence and treatment outcome of active Cushing’s disease in Belgium

Bex Marie , Nauwelaerts Heidi , T'Sjoen Guy , Velkeniers Brigitte , Corvilain Bernard , Abrams Pascale , Beckers Albert , De Block Christophe , Maiter Dominique

To estimate the point prevalence of active Cushing’s disease (CD) in Belgium, all endocrinologists were invited to perform a retrospective chart review of the CD patients they had been treating between 1-1-2009 and 31-12-2010.Only patients requiring cortisol lowering therapy because of cortisol excess could be included, such as de novo patients (n=53), previously diagnosed patients with persisting/recurrent disease after pituitary surgery a...

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...

ea0022oc6.5 | Bone | ECE2010

The ratio of PTH as measured by third and second generation assays as a marker for parathyroid carcinoma

Cavalier Etienne , Daly Adrian F , Betea Daniela , Delanaye Pierre , Stubbs Phil , Bradwell Athur R , Chapelle Jean-Paul , Beckers Albert

Background: Parathyroid carcinoma (PCa) is a rare disease that can be difficult to differentiate initially from benign parathyroid adenoma. PCa over-secrete the amino form of parathyroid hormone (PTH), which is recognized by 3rd generation but not by 2nd generation (‘intact’) PTH assays. In normal individuals, the 3rd generation/2nd generation PTH ratio should always be <1.Material and methods: We studied the utility of the 3rd generation/2...

ea0063gp173 | Obesity (1) | ECE2019

Excellent tumor response to pasireotide therapy in an aggressive and dopamine-resistant prolactinoma

Coopmans Eva , van Meyel Sebastiaan , Pieterman Kay , van Ipenburg Jolique , Hofland Leo , Donga Esther , Daly Adrian , Beckers Albert , van der Lely Aart-Jan , Neggers Sebastian

Background: Prolactinomas are the most frequent secreting pituitary adenomas encountered in the clinical setting. Cabergoline is considered the mainstay medical treatment and transsphenoidal surgery (TSS) is recommended for patients that are medically resistant to dopamine agonist therapy. Resistance to dopamine agonists is commonly defined as failure to normalize prolactin and less than 50% decrease in tumor diameter at a maximal labeled dose of 2.0 mg/week. Pasireotide LAR (...