Searchable abstracts of presentations at key conferences in endocrinology

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...

ea0099oc4.2 | Oral Communications 4: Diabetes, Obesity, Metabolism and Nutrition | Part I | ECE2024

Glucose at gestational diabetes diagnosis predicts neonatal hypoglycaemia, large-for-gestational age and post-partum abnormal maternal glucose homeostasis

Cidade-Rodrigues Catarina , Silva Bruna , Chaves Catarina , Benido Silva Vania , Saavedra Ana , Araujo Alexandra , Machado Claudia , Pereira Catarina , Gomes Vania , Figueiredo Odete , Melo Anabela , Ferreira Anabela , Martinho Mariana , Morgado Ana , Almeida Margarida , Almeida M Ceu , Cunha Filipe

Introduction: Hyperglycaemia has been associated with worse maternal and foetal outcomes as well as higher risk for future type 2 diabetes (T2D).Objectives: We study the association between glucose above diagnostic threshold (GADT) at gestational diabetes (GD) diagnosis and risk of perinatal complications and maternal glucose abnormalities at post-partum.Materials and Methods: Retrospective study based on the national register of G...

ea0099ep198 | Thyroid | ECE2024

Gynecomastia as the first manifestation of thyrotoxicosis: an unusual case report

Cidade-Rodrigues Catarina , Benido Silva Vania , Silva Bruna , Almeida Margarida

Introduction: Gynecomastia is a benign excessive proliferation of glandular tissue in the male breast and results from an increased breast estrogen/androgen activity ratio. It may be physiological (infancy, puberty or aging) or pathological. The most common cause is drug-induced. Although hyperthyroidism is a rare cause(1.5%), gynecomastia occurs in up to 25-40% of males with Graves’ disease and is often undiagnosed. Its development as the first manifestation of this thyr...

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...

ea0049gp213 | Thyroid 2 | ECE2017

IgG4-related fibrous variant of Hashimoto thyroiditis in a non-Asian woman

do Vale Sonia , Filipa Martins Ana , Costa Cristiana , Batista Lucas , Mendes de Almeida Margarida

Introduction: First described in 2009, IgG4-related thyroid disease includes several subcategories: Riedel’s thyroiditis, fibrous variant of Hashimoto thyroiditis (FVHT), IgG4-related Hashimoto thyroiditis (HT) and Graves’ disease with elevated IgG4. It is rare, with most cases described in Japan and characterized by increased IgG4 plasma cells at immunostaining.Case Report: A 59-year-old Caucasian women, without known Asian ancestry, was obser...

ea0049gp226 | Thyroid Cancer | ECE2017

Malignancy Rate in Thyroid Nodules: Cytology versus Histology in challenging categories

Silvestre Catarina , Luis Rita , Bugalho Maria Joao , de Almeida Margarida Mendes , Carvalho Raquel

Background: To stratify the risk of malignancy, thyroid fine-needle aspiration cytology (FNAC) is an important and cost-effective method to evaluate nodules. The Bethesda System for Reporting Thyroid Cytopathology III, IV and V categories are diagnostic challenges, falling between benign and malignant.Objective: Determinate the malignancy rates of thyroid nodules classified as Bethesda Categories III-V.Methods: Retrospective study ...

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 ...