Searchable abstracts of presentations at key conferences in endocrinology

ea0016p601 | Paediatric endocrinology | ECE2008

Prolactinomas in pediatric age

Matos Ana Catarina , Mota Filipe , Marques Olinda , Antunes Ana , Almeida Rui

Introduction: Prolactinomas are the most common pituitary adenomas in paediatric patients, except in the first decade of life, when ACTH secreting adenomas are more frequent.Objective: Analysis of clinical, diagnostic and therapeutic data of prolactinomas in paediatric age.Methods: Retrospective study of 15 patients whose symptoms began before 18 years of age.Results: In girls, secondary amenorrhea (58.3%) an...

ea0056p64 | Adrenal cortex (to include Cushing's) | ECE2018

Bilateral macronodular adrenal hyperplasia with autonomous cortisol secretion

Nogueira Claudia , Cunha Filipe , Souteiro Pedro , Oliveira Sofia Castro , Mesquita Joana

Introduction: Bilateral macronodular adrenal hyperplasia is a rare cause of Cushing’s syndrome (CS) characterized by multiple adrenal nodules >1 cm. It can be diagnosed in patients with overt CS but is more often diagnosed incidentally, especially in the 5th or 6th decades of life.Clinical case: 61-year-old woman with type 2 diabetes, arterial hypertension and dyslipidemia treated with metformin+sitagliptin 1000/50 mg bid, valsartan+hydrochlorot...

ea0056p459 | Diabetes complications | ECE2018

Predictors of perinatal complications in pregnant women with gestacional diabetes

Cunha Filipe Manuel , Eira Jose Joao , Pires Vanessa , Carvalho Sonia , Nogueira Claudia

Background: Pregnant women with gestational diabetes (GD) have a higher risk of perinatal complication compared to women without. Nevertheless, in women with GD, predictors of perinatal complication are not well established. We aimed to compare, in women with GD, those with and without perinatal complications and to study predictors of perinatal complications in women with GD.Methods: Retrospective study of pregnant women followed in the Endocrinology cl...

ea0056p635 | Clinical case reports - Thyroid/Others | ECE2018

Subacute thyroiditis in association with psoriasis and behcet’s disease

Carvalho Ferreira Paulo , Maia Bruno , Marinho Antonio , Veloso Ana , Cunha Ivo , Leite Ines , Mota Filipe

Introduction: Subacute thyroiditis is usually a self-limited pathology, possibly of viral aetiology, defined by cervical pain and sometimes systemic symptoms. Its association with autoimmune diseases doesn’t seem to be more frequent than in the general population.Clinical case: Clinical findings of thyrotoxicosis with 3 weeks of evolution associated with anterior cervical pain and fever up to 38 °C. The patient presented with recurrent mouth so...

ea0073aep497 | Pituitary and Neuroendocrinology | ECE2021

Kallmann syndrome due to a mutation in ANOS1 gene and monoallelic mutation in GNRHR gene

Cidade-Rodrigues Catarina , Chaves Catarina , Martinho Mariana , Cunha Filipe , Almeida Margarida

IntroductionHypogonadotropic hypogonadism (HH) is a rare disease. When associated with anosmia/hyposmia, it is called Kallmann syndrome (KS). Several mutations in different genes have been implicated in its pathophysiology, the most frequent being ANOS1/KAL1, FGFR1 and GNRHR genes. This heterogenicity can be explained by the increasing detection of more than one pathogenic variant in the genes responsible for causing the disease (oligogenism). The preval...

ea0073aep597 | Reproductive and Developmental Endocrinology | ECE2021

Triple-X syndrome as a cause of primary ovarian insufficiency

Cidade-Rodrigues Catarina , Chaves Catarina , Martinho Mariana , Cunha Filipe , Almeida Margarida

IntroductionPrimary ovarian insufficiency (POI) occurs in 1% of women between puberty and 40 years old. Despite being idiopathic in 74–90% of the cases, there are other etiologies, such as genetic causes (in up to 16% of cases). Triple-X syndrome (TXS) is a common (estimated incidence of 1/1000 women) but frequently undiagnosed chromosomal abnormality. Most women are phenotypically normal, despite this fact, POI can still develop. We present a case ...

ea0075a08 | Adrenal gland | EYES2021

Ectopic cushing’s syndrome secondary to acinic cell carcinoma of the parotida gland: A case-report

Pinheiro Sara , Filipe Juliana , Meireles Pedro , Castelo Branco Sara , Rito Miguel , Nunes da Silva Tiago

Background: Ectopic ACTH secretion from metastatic acinic cell carcinoma (ACC) of the parotid gland is extremely rare. ACC is an uncommon, typically indolent, salivary gland neoplasm. Herein, we report a case of a high-grade ACC later diagnosed with Cushing’s syndrome (CS).Case presentation: A 60-year-old man presented with a laterocervical mass. Computed tomography (CT) documented a 39×38 mm mass on the parotid gland and homolateral cervical l...

ea0090ep41 | Adrenal and Cardiovascular Endocrinology | ECE2023

The role of CRH test in predicting the efficacy of unilateral adrenalectomy in Bilateral Macronodular Adrenal Hyperplasia

Tizianel Irene , Detomas Mario , Deutschbein Timo , Carla Scaroni , Ceccato Filippo

Background and Aim: Bilateral Macronodular Adrenal Hyperplasia (BMAH) is a rare form of adrenal Cushing’s syndrome (CS). The treatment of choice in patients with BMAH and overt CS is bilateral adrenalectomy (B-Adx), which however implies lifelong glucocorticoid and mineralocorticoid replacement therapy. Unilateral adrenalectomy (U-Adx) has been proposed as an alternative to B-Adx, especially in case of clearly asymmetric adrenal size. Our aim was to determine predictive f...

ea0037ep176 | Reproduction, endocrine disruptors and signalling | ECE2015

In vitro effects of aspartic acid, coenzyme Q10 and zinc on sperm function

Giacone Filippo , Condorelli Rosita , Vignera Sandro La , Calogero Aldo Eugenio

Introduction: D-aspartic acid (D-AA) is involved in the regulation of spermatogenesis by influencing hormonal biosynthesis and secretion, resulting in an increased sperm concentration and progressive motility. Coenzyme Q10 (CoQ10) correlates positively with sperm concentration and motility at high concentrations, and it plays an antioxidant role, improving sperm motility and fertilization rate in ICSI cycles. Finally, low concentrations of zinc (Zn) have been found in azoosper...

ea0032p720 | Nuclear receptors and signal transduction | ECE2013

Coordination of 17β-estradiol-dependent cell proliferation requires diverse post-translational modifications

La Rosa Piergiorgio , Pesiri Valeria , Marino Maria , Acconcia Filippo

The sex hormone 17β-estradiol (E2) exerts its pleiotropic effects through the binding to the ligand-activated transcription factor estrogen receptor alpha (ERa). The E2:ERa complex regulates several physiological processes including cell survival and proliferation through transcriptional (i.e., estrogen responsive element (ERE)-based gene transcription) and non-transcriptional membrane-initiated effects (i.e., activation of signalling cascades).Many...