Searchable abstracts of presentations at key conferences in endocrinology

ea0049ep305 | Calcium & Vitamin D metabolism | ECE2017

Pseudohypoparathyroidism (PHP) and GNAS gene mutations – clinical spectrum from PHP type 1a to pseudopseudohypoparathyroidism

Saavedra Ana , Rodrigues Elisabete , Cunha Filipe , Leao Miguel , Carvalho Davide

Introduction: Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of disorders that have in common end-organ unresponsiveness to parathyroid hormone (PTH). The most frequent form, PHP type 1, results from different genetic/epigenetic changes in the GNAS gene.Case 1: Woman, 25 years-old, sent to Endocrinology from Genetics consultation after her daughter had been diagnosed with PHP type 1a (heterozygous pathogenic variant at exon 13 of...

ea0037ep1263 | Clinical Cases–Thyroid/Other | ECE2015

Graves' disease in a mediastinal mass presenting after total thyroidectomy for nontoxic multinodular goitre

Cunha Filipe , Rodrigues Elisabete , Oliveira Joana , Vinhas Luis , Carvalho Davide

Introduction: Thyrotoxicosis after total thyroidectomy (TT) is mostly iatrogenic. Rarely, an hyperfunctional thyroid remnant or ectopic tissue may be the cause. We report a case of Graves’s disease in a mediastinal thyroid mass presenting 7 years after TT for nontoxic goitre.Case report: A 67-year-old woman presented with palpitations, fatigue and weight loss. She had a history of TT for nontoxic multinodular goitre at the age of 60 without any sign...

ea0056ep115 | Pituitary and Neuroendocrinology | ECE2018

Macroprolactinemia diagnosed in a patient evaluated for primary infertility

Nogueira Claudia , Cunha Filipe , Ferreira Ivan , Mesquita Joana

Introduction: Hyperprolactinemia is associated with suppression of the hypothalamic-pituitary-gonadal axis and it’s a frequent cause of infertility, occurring in about 30–40% of infertile women. The bioactive fraction of prolactin is a 23-kDa monomer. However, there are other isoforms with reduced or absent bioactivity, such as macroprolactin, which can be detected by the precipitation reaction by polyethylene glycol. Macroprolactinemia should be suspected in the pre...

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...

ea0056p64 | Adrenal cortex (to include Cushing's) | ECE2018

Bilateral macronodular adrenal hyperplasia with autonomous cortisol secretion

Nogueira Claudia , Cunha Filipe , Souteiro Pedro , Oliveira Sofia Castro , Mesquita Joana

Introduction: Bilateral macronodular adrenal hyperplasia is a rare cause of Cushing’s syndrome (CS) characterized by multiple adrenal nodules >1 cm. It can be diagnosed in patients with overt CS but is more often diagnosed incidentally, especially in the 5th or 6th decades of life.Clinical case: 61-year-old woman with type 2 diabetes, arterial hypertension and dyslipidemia treated with metformin+sitagliptin 1000/50 mg bid, valsartan+hydrochlorot...

ea0056p459 | Diabetes complications | ECE2018

Predictors of perinatal complications in pregnant women with gestacional diabetes

Cunha Filipe Manuel , Eira Jose Joao , Pires Vanessa , Carvalho Sonia , Nogueira Claudia

Background: Pregnant women with gestational diabetes (GD) have a higher risk of perinatal complication compared to women without. Nevertheless, in women with GD, predictors of perinatal complication are not well established. We aimed to compare, in women with GD, those with and without perinatal complications and to study predictors of perinatal complications in women with GD.Methods: Retrospective study of pregnant women followed in the Endocrinology cl...

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 ...