Searchable abstracts of presentations at key conferences in endocrinology

ea0058p037 | Miscellaneous Endocrinology | BSPED2018

PTRF novel mutation causing congenital generalized lypodistrophy type 4

Martinez Ana Sastre , Willemsen Ruben

Introduction: Congenital generalized lipodystrophy (CGL) is a heterogeneous, rare, monogenic condition, characterized by loss of subcutaneous fat, muscular hypertrophy, acanthosis, hepatomegaly and impaired lipid metabolism. Four types have been identified, caused by mutations in AGPAT2, BSCL2, CAV1 and, PTRF, respectively. Mutations in PTRF cause CGL type 4, characterized by muscular dystrophy, myopathy, cervical spine instability,...

ea0058p011 | Bone | BSPED2018

Congenital hyperinsulism of infancy in a child with autosomal dominant hypocalcaemia type1 due to an activiting calcium sensing receptor mutation

Gevers Evelien , Martinez Ana Sastre , Shah Pratik

Introduction: Autosomal dominant hypocalcaemia (ADH) is caused by activating mutations of the calcium sensing receptor (CaSR). Symptomatology ranges from asymptomatic hypocalcaemia to paraesthesia, tetani, laringospasm and, seizures. This is the first report of congenital hyperinsulinism (CHI) in a child with ADH.Case report: A female infant, born at term from non-consanguineous parents, presented on D2 with persistent asymptomatic hypoglycaemia requirin...

ea0049ep973 | Pituitary - Clinical | ECE2017

Clinical, histological, molecular features and outcomes of craniopharyngiomas: Single centre experience in Toledo, Spain

Vicente Almudena , Moreno Beatriz , Olivar Monica , Martinez Ana , Mollejo Manuela , Sastre Julia , Lopez Jose

Background: Craniopharyngiomas (CPs) are epithelial tumors that typically arise in the suprasellar region. They are associated with high levels of morbidity related to tumour location and/or treatment-related injuries. Recent discoveries have also led to a better understanding of CP development and potential treatments.Objetive: To analyse the clinical, pathological, molecular features and outcomes of patients with CP.Design: Retro...

ea0041ep544 | Diabetes therapy | ECE2016

Potential glycemic overtreatment in diabetics patients older than 70 years and comorbid conditions: real-life experience

Vicente Almudena , Olivar Monica , Cortes Claudia , Martinez Ana , Sastre Julia , Pena Virginia , Canovas Barbara , Lopez Jose

Background: Optimal glucose management in older people is currently unclear. Recent guidelines recommend avoiding tight glycemic targets in elderly patients with comorbidities because intensive control is unlikely to achieve benefit and they are at higher risk of hypoglycaemia.Objective: To estimate the prevalence of potential overtreatment in older adults with diabetes mellitus and comorbidities.Design: Cross-sectional study.<...

ea0041ep576 | Diabetes therapy | ECE2016

Trends and differences between sexes in control of diabetes and cardiovascular risk factors from 2004 to 2014

Vicente Almudena , Cortes Claudia , Olivar Monica , Martinez Ana , Sastre Julia , Marco Amparo , Luque Ines , Lopez Jose

Background: Poorer control of risk factors for cardiovascular disease (cvd) has been reported in diabetic women compared with men.Objective: To investigate whether control of diabetes and risk factors for cvd differ between sexes in a cohort of diabetic patients monitored at an outpatient endocrinology clinic from 2004 till 2014.Design: Observational, retrospective cohort study.Patients and methods: A cohort ...

ea0070aep642 | Pituitary and Neuroendocrinology | ECE2020

An uncommon cause of atrial fibrillation

Llaro Mary , Martinez Ana , Quiroga Ivan , Parra Ramírez Paola , Moya Elisa , Blanco Benito

Thyrotropin-secreting pituitary adenomas (TSHomas) are rare functioning pituitary adenomas, accounting for less than 1%. They commonly present as macroadenomas with symptoms of hyperthyroidism. Though surgery is the first line therapy, cure is achieved in only 30–40%, with high rate of post-surgical hypopituitarism. We propose somatostatin analogs having a new role in the management. We report a case of 73 years-old man with a 6-month history of palpitations and progress...

ea0056p17 | Adrenal cortex (to include Cushing's) | ECE2018

Clinical and biochemical outcomes in surgically treated patients with primary aldosteronism. A multicentric retrospective study

Vicente Almudena , Sirvent Alejandro , Herranz Sandra , Lamas Cristina , Martinez Ana , Sastre Julia

Background: Although unilateral primary aldosteronism (PA) is the most common surgically correctable cause of hypertension, no standard criteria exist to classify surgical outcomes. The Primary Aldosteronism Surgical Outcome (PASO) study was an international project to develop consensus criteria for outcomes and follow-up of adrenalectomy for unilateral PA.Objetives: To determine the proportions of patients achieving complete, partial, or absent clinical...

ea0081ep1011 | Thyroid | ECE2022

Long-term thyroid function in women diagnosed with subclinical hypothyroidism in pregnancy

Revuelta Rocio , Castro Ana , Martinez Belen , Cruz Andrea , Picazo-Perea Maria-Piedad , Martin-Torres Esther , Lopez-Martos Aurora , Vicente Almudena

Introduction: Subclinical hypothyroidism (SCHT) in pregnancy has been associated with adverse obstetric and perinatal outcomes. However, few studies have investigated the evolution of postpartum thyroid function in women first diagnosed with SCHT in pregnancy (gestational SCHT).Objective: To determine the evolution of thyroid function (TF) and the clinical and biochemical factors related to the long-term persistence of hypothyroidism (HT) in women with g...

ea0041ep1014 | Thyroid (non-cancer) | ECE2016

Is there seasonality in the month of birth of patients with autoimmune thyroid diseases?

Ramos-Levi Ana M , Serrano-Somavilla Ana , Martinez-Hernandez Rebeca , Sampedro-Nunez Miguel , Vicuna Alicia , Vitales-Noyola Marlen , Marazuela Monica

Background: Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) are common disorders with an autoimmune etiology, which are known as autoimmune thyroid diseases (AITD). A specific seasonal pattern of the month of birth has been suggested in several autoimmune disorders, supporting the hypothesis of a link between viral infections and the development of aberrant immune-regulatory mechanisms. However, there are few studies which specifically address this issue in AIT...

ea0090p178 | Reproductive and Developmental Endocrinology | ECE2023

Are there Differences Between Androgens When Studying Androgenisation in the Transgender Patient?

Latorre Mesa Carlos , Velasco de Cos Guillermo , Villar Bonet Aurelia , Moyano Martinez Ana , Alexandra Zapata Maldonado Gabriela , Ormazabal Monterrubio Maialen , Alio Lavin Gomez Bernardo , Teresa Garcia-Unzueta Maria

Introduction: In gender affirming therapy of the transgender male, increasing doses of testosterone are administered and as the androgen dose increases, various biochemical parameters such as haematocrit, creatinine and PSA increase. It is not known whether any parameters have advantages in monitoring this androgenisation. Our study evaluates the correlation between the increase in androstanediol glucuronide, testosterone, free testosterone and free androgen index (FAI) with t...