Searchable abstracts of presentations at key conferences in endocrinology

ea0041ep248 | Clinical case reports - Pituitary/Adrenal | ECE2016

Kallmann syndrome and ichthiosis. A case of contiguous gene deletion syndrome

Berges-Raso Irene , Gimenez-Palop Olga , Caixas Assumpta , Gabau Elisabeth , Casamitjana Laia , Capel Ismael , Subias David , Rigla Mercedes

Introduction: Kallmann Syndrome (KS) is a genetically heterogeneous disease characterised by hypogonadotrophic hypogonadism with anosmia or hyposmia. It can be associated with X-linked ichthyosis (XLI) in a contiguous gene syndrome related to a Xp22.3 region deletion, which include KAL1 and STS genes.Case report: We report a case of a 32-year-old male with ichthyosis referred for evaluation of high height (2.07 m), overweight (BMI 29.6 kg/m2) ...

ea0063p39 | Adrenal and Neuroendocrine Tumours 1 | ECE2019

A novel CYP11B1 mutation presenting as a classical congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency

Mazarico Isabel , Gimenez-Palop Olga , Albert Lara , Florencia Luchtenberg , Casamitjana Laia , Capel Ismael , Subias David , Cano Albert , Guitart Miriam , Caixas Assumpta , Rigla Mercedes

Background: Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder, of which 21-hydroxylase deficiency (21OHD) is the most frequent form. 11 beta-hydroxylase deficiency (11bOHD) is the second most common type of CAH. This pathology results from inactivating mutations in CYP11B1 gene.Case presentation: We describe a case of a 48-year-old woman with 11bOHD, presented with hypokalemia hypertension, early adrenarche and mild vir...

ea0049gp238 | Thyroid Cancer & Thyroid Case Reports | ECE2017

A fatal case of fetal goiter: autoimmunity is the key

Berges-Raso Irene , Albert Lara , Caixas Assumpta , Capel Ismael , Cano Albert , Mazarico Isabel , Serra Laura , Corona Manuel , Martinez Cesar Martin , Rigla Mercedes

Introduction: Fetal goiter is an infrequent and potentially life-threating condition derived from either fetal hypothyroidism or hyperthyroidism. TSH-receptor stimulating antibodies (TSH-R-ABs) can cross the placenta and induce fetal hyperthyroidism and goiter. We describe a rare case of TSH-R-ABs-induced hyperthyroidism in a woman with autoimmune hypothyroidism (AH) without previous hyperthyroidism.Case Report: A 28 years old pregnant woman under treatm...

ea0049ep165 | Endocrine tumours and neoplasia | ECE2017

Could alcohol ablation become the standard of care for benign insulinomas?

Mazarico Isabel , Subias David , Junquera Felix , Vilardell Carme , Saigi Ignasi , Cano Albert , Casamitjana Laia , Gimenez-Palop Olga , Albert Lara , Capel Ismael , Caixas Assumpta , Rigla Mercedes

Introduction: Surgical resection is currently considered the standard treatment for symptomatic insulinomas; however, its morbidity is high (>10%) and it is restricted to suitable candidates. In recent years, alternative minimally invasive therapies, such as endoscopic ultrasound (EUS)-guided ethanol ablation (EA), have emerged as new therapeutic options, especially for small lesions or poor surgical candidates. We report two cases of insulinoma ablated with EA.<p clas...

ea0049ep641 | Neuroendocrinology | ECE2017

Comparison of GHRH + arginine vs glucagon test for the evaluation of growth hormone secretion status in a cohort of adults with Prader-Willi syndrome (PWS)

Casamitjana Laia , Olga Gimenez-Palop , Raquel Corripio , Rocio Pareja , Marta Hurtado , Elisabet Gabau , Jesus Cobo , Eugenio Berlanga , Albert Cano , Lara Albert , Mercedes Rigla , Assumpta Caixas

Background: Prader-Willi syndrome (PWS) is a rare genetic disorder evolving morbid obesity and growth hormone deficiency (GHD). Testing GH-IGF1 axis is required before treatment with rhGH in adults with PWS (1). The most common used tests in these patients are GHRH+arginine (GHRH+a) and insulin tolerance test. There are no prospective data for glucagon test (GT) in comparison to GHRH+a in adults with PWS. Mechanism by which GT causes GH release remains unclear, glucagon-induce...

ea0041gp126 | Neuroendocrinology | ECE2016

Abnormal hypothalamus and related brain regions in Prader–Willi syndrome evaluated in vivo by diffusion tensor imaging (DTI)

Caixas Assumpta , Fenoll Raquel , Pujol Jesus , Bueno Marta , Esteba Susanna , Blanco-Hinojo Laura , Macia Didac , Novell Ramon , Coronas Ramon , Gimenez-Palop Olga , Rigla Mercedes , Deus Joan

Introduction: Prader–Willi syndrome is a genetic disorder characterized by hypotonia, intellectual disabilities, obesity and behavioral disturbance. Patients present with several neuroendocrinological abnormalities, such as growth hormone deficiency, hypogonadotropic hypogonadism, and hyperphagia, as the result of possible involvement of the hypothalamo-hypophyseal system. Diffusion tensor imaging (DTI) is a noninvasive MRI technique capable of providing quantitative indi...

ea0041ep796 | Obesity | ECE2016

Decrease in arterial stiffness (AS) in morbidly obese (MO) patients after bariatric surgery (BS): Relationship with obstructive sleep apnoea (OSA), anthropometric parameters and low-grade inflammation (LGI)

Caixas Assumpta , Tirado Raquel , Vigil Laura , Jose Masdeu Maria , Villaplana Maria , Luna Alexis , Rebassa Pere , Hurtado Marta , Pareja Rocio , Pons Belen , Rigla Mercedes

Materials and methods: We studied 30 MO patients with OSA without Continuous Positive Airway Pressure (CPAP) treatment, before and one year after surgery. All patients underwent overnight conventional polisomnography (CE-Series Compumedics, Victoria, Australia). Sleeve gastrectomy or Roux-en-Y gastric bypass were performed according to the local protocol. To asses AS, augmentation index adjusted for heart rate (IAx@75) was obtained by applanation tonometry (Sphygmocor&#17...

ea0041ep797 | Obesity | ECE2016

Relationship between the severity of obstructive sleep apnoea (OSA), low-grade-inflammation (LGI) and Heme Oxygenase 1 (HO1) in morbidly obese (MO) patients, before and after bariatric surgery (BS)

Tirado Raquel , Jose Masdeu Maria , Vigil Laura , Rebassa Pere , Luna Alexis , Montmany Sandra , Villaplana Maria , Pons Belen , Rigla Mercedes , Caixas Assumpta

Introduction: HO1 is a new adipokine with a protective role against cellular stress and hypoxia1. MO presents with high low grade inflammation (LGI)2 and high circulating levels or adipose tissue expression of HO13. The effect of bariatric surgery on HO1 and its relationship with OSA and LGI has not yet been studied.Methods: We studied 66 MO patients before and 1 year after BS. All of them presented OSA without Continuous...

ea0041ep799 | Obesity | ECE2016

16p11.2 Microdeletion and Prader Willi syndrome: similarities and differences

Casamitjana Laia , Caixas Assumpta , Berges Irene-Noelia , Albert Lara , Cano Albert , Capel Ismael , Gimenez-Palop Olga , Gabau Elisabet , Corripio Raquel , Rigla Mercedes

Introduction: Prader Willi syndrome (PWS) is the most common syndromic form of obesity, caused by the absence of expression of the paternally active gens on the long arm of chromosome 15.The 16p11.2 microdeletion has recently been recognized as a syndromic condition appearing to be a predisposing factor for overweight, being the second most common genetic cause of obesity. One possible causative gen- SH2B1- involving leptin and insulin signaling, has been identified, although ...

ea0056p27 | Adrenal cortex (to include Cushing's) | ECE2018

A new ARMC5 mutation responsible for primary bilateral macronodular adrenal hyperplasia

Mazarico Isabel , Subias David , Guitart Miriam , Bella Rosa Maria , Albert Lara , Luchtenberg Florencia , Berges Irene , Capel Ismael , Cano Albert , Casamitjana Laia , Gimenez-Palop Olga , Caixas Assumpta , Rigla Mercedes

Introduction: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause (<2 percent) of endogenous CushingÂ’s syndrome, usually characterized by enlarged adrenal glands containing multiple functioning nonpigmented macronodules. PBMAH was thought to be sporadic, but recently a genetic component has been described. Specifically, inactivating mutations in ARMC5 (Armadillo-repeat containing 5), a suppressor gene, have been found in many familial c...