Searchable abstracts of presentations at key conferences in endocrinology

ea0090ep92 | Adrenal and Cardiovascular Endocrinology | ECE2023

A case of a black adrenal adenoma with autonomous cortisol secretion

Cidade-Rodrigues Catarina , de Brito Marques Francisca , Palma Isabel

Introduction: Adrenal incidentalomas are a frequent finding (1.4-7.3% on abdominal CT) and increasingly common with age, obesity, diabetes and hypertension. When approaching adrenal masses, clinicians should exclude malignancy and hormonal hypersecretion. Black adrenal adenomas (BAA), first reported in 1938, are rare benign adrenocortical tumours with black/brown appearance, containing lipofuscin. Most are non-functional, rarely inducing hypercortisolism. We present a case of ...

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...

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 ...

ea0092ps3-26-01 | Thyroid hormone diagnostics 2 | ETA2023

Predictors of bethesda i category in thyroid fine needle aspiration cytology

Rodrigues Catarina , Benido Silva Vania , Puga Francisca , Freitas Claudia , Couto Carvalho Andre

Introduction: Fine needle aspiration cytology(FNAC) is the mainstay for evaluation of nodular thyroid disease. Internationally reported prevalence for Bethesda I(unsatisfactory sample) category is 5-60%. Several factors may determine this result, including patient and nodules’ features as well as both FNAC performer and pathologists’ skills. Few studies have evaluated pre-procedure factors associated with unsatisfactory cytology results. If present, recognizing these...

ea0092ps3-29-04 | Treatment 2 | ETA2023

Effectiveness of lenvatinib in progressive metastatic radioiodine refractory well differentiated and poorly differentiated thyroid carcinoma

Nunes da Silva Tiago , Regala Catarina , Rodrigues Ricardo , Roque Joao , Damasio Ines , Cavaco Branca , Leite Valeriano

Introduction and objectives: Lenvatinib is the first line treatment for advanced radioiodine refractory (RAIR) differentiated thyroid carcinoma (DTC). Poorly differentiated thyroid carcinoma (PDTC) outcomes with Lenvatinib have only been subjected to sub analysis in one PHASE III study (SELECT), which might limit its real-world use in PDTC. We intend to compare the effectiveness of Lenvatinib in metastatic RAIR DTC and PDTC patients.Methods: Retrospectiv...

ea0090ep323 | Diabetes, Obesity, Metabolism and Nutrition | ECE2023

Programmed cell death-1 inhibitor-induced Type 1 Diabetes Mellitus – an interesting case presenting with diabetic ketoacidosis

Maia Ariana , Rodrigues Catarina Cidade , Soares Daniela , Monteiro Silvia Santos , Pereira Maria Teresa , Amaral Claudia , Cardoso Maria Helena

Introduction: Immunotherapy has demonstrated a key role in the current individualized treatment of multiple neoplasms, with adverse events related to the endocrine. Thyroid dysfunction is the most frequent reported endocrine event during treatment with pembrolizumab, being autoimmune diabetes an extremely rare adverse effect.Case Report: We present a case of a 72-year-old man with a progressing urothelial bladder carcinoma (stage IIIB), under treatment w...

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...