Searchable abstracts of presentations at key conferences in endocrinology

ea0081ep229 | Calcium and Bone | ECE2022

Multifactorial causes of secondary osteoporosis: a case report

Fortes Delfina Indira , Barbosa Ana Paula

Introduction: Osteoporosis is a metabolic bone disease, characterized by reduction and changes in the bone mass quantity and quality, leading to an increased risk of fractures. It can be divided in primary (postmenopausal or senile), secondary and idiopathic. In the presence of osteoporotic fractures, particularly in men before the age of 65, it is essential to investigate the presence of secondary causes in order to establish an etiological therapy.Case...

ea0090ep190 | Calcium and Bone | ECE2023

Denosumab in the treatment of fracturary osteoporosis: the double effect on bone and glycemic metabolism

Cosme Ines , Nobre Ema , Barbosa Ana Paula

Background: Denosumab (Dmab) is a human monoclonal antibody with an anti-reabsorptive bone effect, used in osteoporosis treatment. It is also suggested that Dmab may improve glucose tolerance through the reduction of hepatic insulin resistance. Some studies have suggested that insulin sensitivity and glycemia can influence bone metabolism.Aims: To evaluate the relationship between bone turnover markers (BTM) and insulin resistance and glycemia in fractur...

ea0073aep224 | Diabetes, Obesity, Metabolism and Nutrition | ECE2021

Treatment transition in a recently described HNF4a-MODY variant: Better late than never?

Barbosa Mariana , Lemos Manuel C. , Fernandes Vera

IntroductionMaturity Onset Diabetes of the Young (MODY) type 1 is characterized by mutations in hepatocyte nuclear factor 4a (HNF4a) gene, leading to progressive dysfunction of pancreatic beta-cells with optimal response to sulphonylurea treatment. However, most of these patients are initially misdiagnosed as having type 1 diabetes and inappropriately treated with insulin. Data on adequate transferring from insulin to sulphonylureas following gen...

ea0063p1157 | Reproductive Endocrinology 2 | ECE2019

Klinefelter syndrome in adults: variability in clinical findings

Barbosa Mariana , Matta-Coelho Claudia , Souto Selma B

Introduction: Klinefelter syndrome (KS) is the most common congenital abnormality causing primary hypogonadism. It occurs in about 1 in 660 live male births. The clinical manifestations include tall stature, small testes, gynecomastia and neurocognitive impairment. Nevertheless, the KS phenotype varies greatly, which might be one of the reasons why the syndrome is highly underdiagnosed. KS is associated with several clinical conditions and increased morbidity/mortality. Testos...

ea0049ep310 | Calcium & Vitamin D metabolism | ECE2017

Clinical review of nine cases of pseudohypoparathyroidism

Barbosa David , Robalo Brigida , Pereira Carla , Sampaio Lurdes

Objective: To analyze the clinicopathological features of pseudohypoparathyroidism (PHP), that would help clinicians to consider this rare condition in children.Methods: A retrospective review of nine patients with PHP (including seven males and three females) admitted to our hospital between 1990 and 2014 was conducted. Clinical and biochemical parameters along with epidemiological data were extracted and analyzed.Results: The mea...

ea0070aep222 | Bone and Calcium | ECE2020

Testosterone, estradiol and 25-hydroxyvitamin D effects at the proximal femur in 3D analysis from a standard 2D DXA scans of adult men

Rui Mascarenhas Mário , Barbosa Ana Paula , Winzenrieth Renaud

Sex steroid hormones play a pleomorphic role in preservation of BMD. The BMD, the blood circulating 25-hydroxyvitamin D [25(OH)D], testosterone and estradiol levels may decline with age and to contribute to bone fragility. Low vitamin D is associated with increased falls number and fractures.Recently, a new software solution, 3D-SHAPER - allows measurements of both trabecular and cortical bone as well as 3D images -, it incorporates a model-bas...

ea0070aep238 | Bone and Calcium | ECE2020

Osteoporotic bone fracture hiding a rare sex chromosome disorder: Case report

Indira Fortes Delfina , Rui Mascarenhas Mario , Barbosa Ana Paula

Introduction: The XXYY Syndromeis an extremely rare sex chromosomal disorder characterized by the presence of extra X and Y chromosomes, and clinically by tall stature, dysfunctional testes associated with infertility and hypogonadism, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations.Case report: A 46-year-old man was referred to theFracture Osteoporosis OutpatientClini...

ea0029p1164 | Nuclear receptors and Signal transduction | ICEECE2012

Chronic and acute effect of IL1β on sex hormone-binding globulin by decreasing HNF-4α via JNK/c-Jun pathway

Simo R. , Barbosa Desongles A. , Hernandez C. , Selva D.

Patients suffering from low-grade chronic inflammatory diseases such as rheumatoid arthritis, osteoarthritis, diabetes and obesity have low plasma SHBG levels. These diseases are characterized among other features by high plasma IL1β levels. The aim of the present study is to explore whether IL1β could regulate hepatic SHBG production to account for low SHBG levels in these diseases. We provide evidence that daily IL1β treatment reduces SHBG production in HepG2 ...

ea0026p308 | Obesity | ECE2011

TNFα plays an essential role in the downregulation of sex hormone-binding globulin production by decreasing hepatic HNF-4α through NF-κB activation

Barbosa-Desongles A , Simo R , Lecube A , Hernandez C , Selva D

The reason why obesity (a chronic low-grade inflammatory disease) is associated with low levels of sex hormone-binding globulin (SHBG) remains to be elucidated. In the present study we provide evidence that TNFα (a proinflammatory cytokine that increases with obesity) reduces SHBG production by human HepG2 hepatoblastoma cells. The effect of TNFα on human SHBG expression was mediated by NF-κB which causes the downregulation of HNF4α: a key SHBG transcriptio...

ea0056p898 | Clinical case reports - Thyroid/Others | ECE2018

Triple X and premature ovarian insufficiency – case report

Matta-Coelho Claudia , Barbosa Mariana , Souto Selma B

Introduction: Triple X syndrome is the most common female chromosomal abnormality, with an estimated incidence of 1/1000 female newborns. Most of the women are phenotypically normal, apart from being taller than average. Possible additional problems are psychiatric disorders, genitourinary malformations, EEG abnormalities, scoliosis and premature ovarian insufficiency.Case report: 46-year-old female, referred to the Endocrinology department due to second...