Searchable abstracts of presentations at key conferences in endocrinology

ea0037ep763 | Pituitary: clinical | ECE2015

When the improbable happens: a case of acromegaly diagnosed during pregnancy

Faria Carolina , Guerra Silvia , Mascarenhas Mario

Introduction: Pregnancy in a patient with acromegaly is uncommon, as the enlarging pituitary adenoma suppresses gonadotropin secretion rendering the patient amenorrhoeic and infertile. About 40% of the women with pituitary adenomas also have hyperprolactinaemia, which further decreases the likelihood of pregnancy.Case report: A 32-year-old woman was sent to our centre in the first trimester of pregnancy with the diagnostic of gestational diabetes. Clinic...

ea0037ep775 | Pituitary: clinical | ECE2015

Congenital pituitary stalk interruption syndrome with isolated GH and TSH deficiency and Rathke's cleft cyst: an incidental association

Wessling Ana , Paixao Raquel , Aragues Jose Maria , Mascarenhas Mario

Introduction: Congenital pituitary stalk interruption syndrome (PSIS) is a rare condition, characterized by the triad (not always complete): absence/hypoplasia of the pituitary stalk, hypoplasia/aplasia of the anterior pituitary and absence or ectopy of the posterior pituitary high signal intensity, on magnetic resonance imaging (MRI). PSIS implies a permanent GH deficiency, in 77% associated with other pituitary hormones deficiencies. The aetiology remains uncertain, but some...

ea0035p350 | Diabetes (epidemiology, pathophysiology) | ECE2014

Clinical case of type 1 diabetes mellitus and multiple sclerosis – just bad luck?

Wessling Ana , Aragues Jose Maria , Guerra Silvia , Mascarenhas Mario

Introduction: Type 1 diabetes mellitus (T1DM) and multiple sclerosis (MS) are organ-specific autoimmune diseases. Their association, first described in a study in Sardinia, left questions about their clustering, clarified by the Familial Autoimmune and Diabetes Study, which showed for the first time an highly increased prevalence of MS in adults with T1DM, reinforced by further epidemiological studies that also revealed increased risk of T1DM in MS patients.<p class="abste...

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...

ea0090p40 | Calcium and Bone | ECE2023

Polymorphisms in genes related to iron metabolism and DNA methylation and their interaction with estradiol in susceptibility to osteoporosis in postmenopausal women

Aguiar Laura , Ferreira Joana , Paula Barbosa Ana , Rui Mascarenhas Mario , Faustino Paula , Inacio Angela , Bicho Manuel

Introduction: Osteoporosis is a multifactorial disease characterized by reduced bone mass and increased risk of fragility fractures. Menopause predisposes women to osteoporosis due to declining estrogen levels. Iron is known to play a relevant role in the development of osteoporosis since iron suppresses osteoblast formation and may also stimulate osteoclast resorption of bone. Also, homocysteine is a known risk factor for osteoporotic fractures and is related to DNA methylati...

ea0063p1028 | Interdisciplinary Endocrinology 2 | ECE2019

Impact of hormonal factors in the genesis of sarcopenia

Mascarenhas Mario Rui , Barbosa Ana Paula , Fortes Indira , Ferreira Joana , Bicho Manuel

The European Working Group on Sarcopenia in Older People (EWGSOP2) defined in 2018 ‘sarcopenia as muscle disease (muscle failure), with low muscle strength overtaking the role of low muscle mass as a principal determinant’; sarcopenia increases risk of falls and fractures, impairs ability to perform activities of daily living, leads to mobility disorders and low quality of life and death. The diagnosis is confirmed by low muscle quantity or quality. The muscle quanti...

ea0049ep234 | Bone &amp; Osteoporosis | ECE2017

Beta-2 adrenergic receptor (ADRB2) gene polymorphism Arg16Gly as risk factor for osteoporosis

Simoes Raquel , Freitas Joana , Barbosa Ana Paula , Mascarenhas Mario , Bicho Manuel

Objectives: To study the association of Beta-2 adrenergic receptor (ADRB2) gene polymorphism Arg16Gly with bone mineral density and metabolic parameters of bone remodelling.Materials and methods: BMD (g/cm2) was measured by DEXA in 105 post-menopausal women: 35 with normal BMD (age=58.30±1.33 years; BMI=28.18 [19.13-39.87] kg/m2) and 70 with osteoporosis (age=68.30±1.09 years; BMI=28.90 [20.78-43.86] kg/m2). Met...

ea0041ep141 | Calcium and Vitamin D metabolism | ECE2016

Idiopathic infantile hypercalcemia: presenting in childhood, diagnosed in adulthood – case report

Silvestre Catarina , Paixao Raquel , Aragues Jose Maria , Guerra Silvia , Mascarenhas Mario

Introduction: Hypercalcemia can be caused by a variety of pathologies/factors. Vitamin D plays a central role in calcium homeostasis, where a tight control of its metabolism is necessary. Inadequate 24-hydroxylase-enzime (CYP24A1) activity leads to failure of 25-hydroxyvitamin and 1,25-dihydroxy-vitamin D3 inactivation, resulting in hypercalcemia.Case report: An asymptomatic, 22-year-old woman was admitted in an Endocrinology appointment for evaluation o...

ea0056p201 | Bone ' Osteoporosis | ECE2018

May polymorphisms of DHFR, CBS and MTHFR genes modulate metabolic and bone remodeling parameters associated with reduced bone mineral density?

Freitas Joana , Carvalho Carla , Ribeiro Carolina , Sarmento David , Paula Barbosa Ana , Rui Mascarenhas Mario , Bicho Manuel

Objectives: To study the association of functional polymorphisms at DHFR, CBS and MTHFR genes with bone mineral density (BMD) and metabolic parameters of bone remodeling.Materials and methods: BMD (g/cm2) was measured by DEXA in 391 subjects: 174 with normal BMD (137F 37M; age=48.79±12.99 years; BMI=29.61±5.22 kg/m2), 62 with osteopenia (48F 14M; age=56.06±12.96 years; BMI=27.64±4.94 kg/m2) and 154 with osteoporosis (119F, 35M; age=64...

ea0081p550 | Calcium and Bone | ECE2022

Biochemical parameters in metabolic bone disease of obese patients

Binda Pereira Raquel , Santos Ana Carolina , Ferreira Joana , Mascarenhas Mario Rui , De Quinhones Levy Pilar , Barbosa Paula , Bicho Manuel

Introduction: Obesity is a pathological condition characterized by a low-grade systemic inflammatory state that predisposes to the onset of some diseases, such as hypertension, diabetes, and hyperlipidemia. Also, obesity can impact bone metabolism, but its effects are controversial.Aims: This observational study aimed to evaluate and correlate the bone mass with the lipidic profile, adipocytokines, glucose metabolism, hepatic function and purine metaboli...