Searchable abstracts of presentations at key conferences in endocrinology

ea0081p444 | Reproductive and Developmental Endocrinology | ECE2022

Use of selective venous vein sampling in postmenopausal women with hyperandrogenism of unclear aetiology

Romero Gregori Ana , Gimenez Olga , Capel Ismael , Subias David , Marcouchi Saad , Costa Laura , Perendreu Juan , Berlanga Eugenio , Rigla Mercedes

Background: Hyperandrogenism is infrequent in menopause, being the most common cause benign pathologies. However, it can also be produced by an ovarian or adrenal tumour. Correct diagnosis and location can be challenging because small lesions may not be visible with modern imaging studies. We report a case of ovarian stromal hyperplasia where selective venous catheterization and hormonal sampling were performed to find the origin of excessive androgen production.<p class="...

ea0063p810 | Thyroid 2 | ECE2019

Outcomes of treatment for severe and active Graves’ ophthalmopathy

Luchtenberg Maria Florencia , Capel Ismael , Visa Josep , Escamilla Yolanda , Subias David , Gimenez-Palop Olga , Albert Lara , Mazarico Isabel , Rigla Mercedes

Introduction: Graves’ ophthalmopathy (GO) is an orbital autoimmune disorder closely linked to thyroid autoimmunity, mainly Graves’ disease. After an initial progressive inflammatory period (active phase), GO stabilizes and eventually subsides (inactive phase). Treatment should rely on a thorough assessment of the activity and severity of GO and its impact on the patient’s quality of life. Patients with active, mild disease generally benefit from local therapies ...

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 &amp; 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...

ea0041gp13 | Adrenal (1) | ECE2016

ACTH stimulation test (250 μg): is salivary cortisol an alternative to serum cortisol?

Albert Lara , Gimenez-Palop Olga , Capel Ismael , Miguel Gonzalez-Clemente Jose , Subias David , Sanchez-Delgado Jorge , Profitos Joaquim , Berlanga Eugenio , Casamitjana Laia , Rigla Mercedes

Introduction: Most serum cortisol (SeC) is linked to cortisol binding globulin and albumin. When the synthesis of proteins is reduced or increased, SeC does not reflect the actual free cortisol (FC) (active fraction). Methods for FC analysis are very laborious and expensive, which makes difficult to use them as a routine laboratory tests. Salivary cortisol (SaC) mirrors the FC in serum, being its measurement easier and cheaper. The determination of SaC, instead of tot...

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 Cushing’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...

ea0056p389 | Diabetes (to include epidemiology, pathophysiology) | ECE2018

Preconception management in type 2 diabetes mellitus (T2DM): there is still much work to do

Berges-Raso Irene , Albert Lara , Capel Ismael , Cano-Palomares Albert , Casamijana Laia , Mazarico Isabel , Luchtenberg Maria Florencia , Costa Jordi , Rigla Mercedes

Background: Preconception planning is essential for a successful pregnancy in women with pregestational diabetes,although many women still do not plan their pregnancies. The rapid outbreak of T2DM among the general population, including women of childbearing age, is one of the largest public health issues. The aim of this study is to describe time trends in preconception planning, obstetric and perinatal outcomesduring the past 8 years in ourpregestational care unit, focusing ...