Searchable abstracts of presentations at key conferences in endocrinology

ea0081rc4.4 | Rapid Communications 4: Pituitary and Neuroendocrinology 1 | ECE2022

KLB gene mutations - a rare cause of hypogonadotropic hypogonadism

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

Introduction: Congenital hypogonadotropic hypogonadism (CHH) is a rare disease. Mutations in various genes have been implicated in its pathophysiology, the most frequent being ANOS1, FGFR1 and GNRHR genes. FGFR1 is essential for cell proliferation, differentiation and migration during embryonic development and is involved in GnRH neuron development and maintenance. Klotho-beta protein (KLB) is expressed in the postnatal hypothalamus and is t...

ea0081ep158 | Calcium and Bone | ECE2022

Milk-alkali syndrome in a patient with chronic hypoparathyroidism

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

Introduction: Milk-alkali syndrome is defined by the triad hypercalcemia, metabolic alkalosis and renal impairment, due to intake of calcium salts and absorbable alkali. It is the 3rd leading cause of hypercalcemia but often underdiagnosed. Patients with chronic hypoparathyroidism after total thyroidectomy have increased risk for this potentially life-threatening complication and its epidemiology is unclear. We present a case of milk-alkali syndrome in a patient with chronic h...

ea0063ep125 | Reproductive Endocrinology | ECE2019

A rare case of hypergonadotrophic hypogonadism by 47,XXY/46,XX mosaic

Chaves Catarina , Cunha Filipe , Rangel Ricardo , Coelho Daniela , Vieira Margarida , Garrido Susana , Martinho Mariana , Almeida Margarida

Introduction: Klinefelter syndrome (KS) represents the most common cause of hypergonadotrophic hypogonadism, with an estimated prevalence of 1:500 to 1:1000 men. This syndrome is characterized by the presence of an additional X chromosome. Eighty percent present with a 47,XXY karyotype and the remaining 20% present with a 47,XXY/46,XY mosaic or with multiple X chromosome aneuploidies, often with additional Y chromosomes. The presence of a 47,XXY/46,XX mosaic with male phenotyp...

ea0070ep506 | Thyroid | ECE2020

Hashimoto’s tiroiditis, quervain’s disease and a suspicious nodule

Roque Catarina , Cunha Clara , Bello Carlos , Saraiva Catarina , Sequeira Duarte João

Introduction: The Quervain’s disease is an infrequent subacute thyroiditis (ST) that results in granulomatous infiltration of the gland’s parenchyma. Is usually diagnosed clinically based on cervical pain, systemic symptoms, altered thyroid function tests (TFTs) and history of upper respiratory tract infection. It is a benign self-limited condition that may share US features with malignancy which may result in improper therapy, including lobectomy.<p class="abs...

ea0070aep644 | Pituitary and Neuroendocrinology | ECE2020

A case of developmental delay by 18q23 deletion syndrome

Chaves Catarina , Martinho Mariana , Brandão Carla , Rodrigues Catarina , Cunha Filipe , Garrido Susana , Vieira Margarida , Almeida Margarida

Introduction: Monosomy 18q represents a partial deletion of the long arm of chromosome 18, with an estimated prevalence of 1:100 000. This syndrome is characterized by a highly variable phenotype. The symptoms and their severity depend on which part of the chromosome is missing. Most common manifestations are hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic fa...

ea0070aep664 | Pituitary and Neuroendocrinology | ECE2020

The role of repeated prolactin samples in patients with hyperprolactinaemia

Rodrigues Catarina , Cunha Filipe , Chaves Catarina , Silva Vieira Margarida , Silva André , Garrido Susana , Martinho Mariana , Almeida Margarida

Introduction: Current guidelines recommend a single prolactin sampling for the diagnosis of hyperprolactinaemia. Nonetheless, in some patients, prolactin levels may normalize in a subsequent sampling or if prolactin is collected through a venous catheter some time after puncture. We aimed to assess the percentage of patients in which prolactin remained elevated in repeated sampling and to determine the best prolactin cutoff associated with persistent hyperprolactinaemia.<p...

ea0081rc1.1 | Rapid Communications 1: Diabetes, Obesity, Metabolism and Nutrition 1 | ECE2022

Predictors of missing postpartum reclassification OGTT in women with gestational diabetes

Cidade-Rodrigues Catarina , Cunha Filipe , Chaves Catarina , Pereira Catarina , Paredes Silvia , Vieira Margarida , Melo Anabela , Figueiredo Odete , Morgado Ana , Martinho Mariana , Almeida M. Ceu , Almeida Margarida

Introduction: Women with gestational diabetes (GD) have an increased risk of developing future type 2 diabetes mellitus (T2DM). A reclassification oral glucose tolerance test (OGTT) is currently recomended in the postpartum period. However, most studies report a compliance rate below 50% and as low as 23%.Objectives: We aimed to study predictors of missing postpartum OGTT in women with GD.Materials and Methods: Retrospecti...

ea0049gp199 | Thyroid 1 | ECE2017

Cardiovascular risk factors in patients with autoimmune thyroiditis

Neves Joao Sergio , Cunha Catarina , Neves Celestino , Oliveira Sofia Castro , Sokhatska Oksana , Dias Camila , Esteves Cesar , Pereira Miguel , Medina Jose Luis , Delgado Luis , Carvalho Davide

Background: Overt thyroid dysfunction is associated with an increased cardiovascular risk. The impact of subclinical hypothyroidism and autoimmunity in the increased cardiovascular risk remains controversial. Aim: To evaluate the interrelations between thyroid function, thyroid autoimmunity and cardiovascular risk factors, in patients with autoimmune thyroiditis (AIT).Methods: 353 subjects with AIT were evaluated. We defined three groups based on TSH lev...