Publications by authors named "Olinda Marques"

Article Synopsis
  • About one-third of Portuguese patients with congenital hypogonadotropic hypogonadism (CHH) have a genetic cause linked to 10 different genes, with a small percentage showing oligogenic inheritance.
  • CHH leads to delayed puberty and infertility due to issues with hormones like GnRH, LH, and FSH.
  • In a study involving 81 patients and 263 controls, genetic screening helped identify pathogenic variants, but many variants classified as uncertain complicate the understanding of the disease causes.
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Purpose: The endogenous hypercortisolism that characterizes Cushing's syndrome (CS) is associated with a state of hypercoagulability that significantly increases the risk of thromboembolic disease, especially, venous events. Despite this certainty, there is no consensus on the best thromboprophylaxis strategy (TPS) for these patients. Our aim was to summarize the published data about different thromboprophylaxis strategies, and to review available clinical tools assisting thromboprophylaxis decision making.

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The majority of pituitary adenomas occur in a sporadic context, and in the absence of known genetic predisposition. Three common variants at the (rs2359536), (rs10763170) and (rs17083838) loci were previously associated with sporadic pituitary adenomas in the Han Chinese population, but these findings have not yet been replicated in any other population. The aim of this case-control study was to assess if these variants are associated with susceptibility to sporadic pituitary adenomas in the Portuguese population.

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Type 1 pseudohypoaldosteronism (PHA-1) is a rare genetic syndrome of unresponsiveness to aldosterone and presents in the neonatal period with hyperkalemia, hyponatremia and metabolic acidosis. The mortality rate can be high and multidisciplinary team is needed for optimal management and adequate growth and development of these patients. Many genotype-phenotype correlations remain uncertain, and the description of the evolution of cases can increase scientific knowledge about the psychomotor development and severity of the different mutations.

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Introduction: The prevalence of neonatal hyperthyroidism (HN) due to maternal Graves Disease (GD) ranges from 0.1 to 2.7%.

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Purpose: To describe a case of successful treatment of a patient with a rare primary pituitary abscess (PA) and propose a management algorithm.

Summary Of Background Data: PA is an infrequent entity that can be life-threatening if not promptly diagnosed and treated. PAs can be primary or secondary, the latter in the presence of sellar anomalies, risk factors or a systemic or local infection.

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Summary: Gonadotropin-releasing hormone (GnRH) agonists, currently used in the treatment of advanced prostate cancer, have been described as a rare cause of pituitary apoplexy, a potentially life-threatening clinical condition. We report the case of a 69-year-old man with a known pituitary macroadenoma who was diagnosed with prostate cancer and started treatment with GnRH agonist leuprorelin (other hormones were not tested before treatment). Few minutes after drug administration, the patient presented with acute-onset severe headache, followed by left eye ptosis, diplopia and vomiting.

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Flash glucose monitoring system (FGMS) is an improved subset of continuous glucose monitoring with a recognized effectiveness on glycemic control, though validation in patients with Liver Cirrhosis (LC) is lacking. To evaluate the accuracy of FGMS in patients with Type 2 Diabetes Mellitus (DM) and LC, a prospective, case-control study was performed in 61 ambulatory patients with LC and DM (LC group, n = 31) or DM (Control group, n = 30). During 14 days, patients performed 4 assessments per day of self-monitoring of blood glucose (SMBG, reference value) followed by FGMS scanning.

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Congenital adrenal hyperplasia (CAH) due to 17α-hydroxylase deficiency, a rare CAH syndrome, is characterised by failure to synthetise cortisol, adrenal androgens and gonadal steroids. The partial deficiency is much rarer, presenting with subtler symptoms. Failure to reach a proper diagnosis causes inappropriate hypertension treatment and impairs the development of secondary sexual characteristics.

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Background: Patients with metabolic syndrome (MetS) are at high risk of developing cardiovascular disease (CVD) and lipoprotein(a) (Lp(a)) is an independent risk factor for CVD. This study aimed to determine the effect of vertical sleeve gastrectomy (VSG)-induced weight loss on Lp(a) levels in obese individuals.

Methods: Patients submitted to VSG from January 2011 to July 2015 were included.

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Article Synopsis
  • Congenital hypogonadotropic hypogonadism (CHH) is a condition where individuals do not undergo normal puberty due to insufficient gonadotropin-releasing hormone (GnRH), often linked to genetic mutations.
  • A study on 50 Portuguese patients found that 16% had rare mutations in the CHD7 gene, with five mutations being previously unreported.
  • These findings suggest that CHD7 mutations are more common in CHH patients than mutations in other known CHH-related genes, highlighting the need to include CHD7 in genetic testing for CHH cases, even without CHARGE syndrome traits.
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Introduction: We aim to define the iron deficiency prevalence and eventual differences between obese patients with and without metabolic syndrome.

Material And Methods: Analysis of patients evaluated at multidisciplinary consultation of obesity in our institution between 2013 and 2015 (n = 260). Iron deficiency: ferritin levels < 15 ng/mL.

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Purpose: To assess biochemical and imaging therapeutic response rates, when these occur and their predictive factors in patients with macroprolactinomas treated with dopamine agonists (DA).

Methods: Retrospective, longitudinal study of patients with macroprolactinomas treated with DA for ≥12 months.

Outcomes: prolactin normalization, reduction in maximum tumor diameter ≥50% and time until therapeutic responses.

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This case study aims to discuss the unusual forms of hyperthyroidism presentation, the nonspecific symptoms and precipitating events. A 70-year-old male was taken to the emergency department for hyperglycaemia, nausea, vomiting and altered mental status with a week of evolution. He had a past medical history of type 2 diabetes, hypertension and dyslipidemia.

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The authors report a case of a 15-year-old girl with hypopituitarism due to pituitary stalk interruption syndrome diagnosed in the neonatal period. The patient was admitted to the emergency room with impaired consciousness and hypoglycaemia. The day before, she increased her water intake to about 1.

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Introduction: Graves' disease (GD) is an autoimmune thyroid disease, common in adults but rare in children. The best therapeutic approach remains controversial.

Objectives: To ascertain the current treatment of pediatric GD in Portugal and to assess the clinical and biochemical factors that determine definitive/long-term remission after treatment with antithyroid drugs (ATDs).

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Cowden syndrome (CS) is a rare dominantly inherited multisystem disorder, characterized by an extraordinary malignant potential. In 80% of cases, the human tumor suppressor gene phosphatase and tensin homolog (PTEN) is mutated. We present a case of a 17-year-old boy with genetically confirmed CS and Graves' disease (GD).

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Type 2 diabetes mellitus (T2DM), cardiovascular disease (CVD) and the cardiovascular effect of antidiabetic drugs are today critical medical issues, with the prevalence of T2DM in particular showing a steep increase worldwide, mainly due to unhealthy lifestyle habits. T2DM in association with obesity and other cardiovascular risk factors, results in the development of CVD, the leading cause of morbidity and mortality in patients with T2DM. Thus, treatment of T2DM is an individualized and complex challenge in which targeting cardiovascular risk factors is an important component in the decision making.

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Giant prolactinomas are rare pituitary tumours of which management can be a challenge. A 28-year-old man presented with headaches, visual impairment and behavioural changes. Clinically, the patient was found to have hypogonadism and bitemporal hemianopsia.

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Background/objective: Mauriac syndrome (MS) is a rare complication of type 1 diabetes mellitus (DM1). It is related to low insulin concentrations and is less common since longer-acting insulins became available. It is characterized by hepatomegaly, growth and puberty delay, and the presence of elevated transaminases and serum lipids.

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We report a neonatal case of systemic pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene (homozygous c.1052+2dupT in intron 3) in which the patient presented with life-threatening hyperkalemia, hyponatremia and metabolic acidosis. It remains uncertain if there is genotype-phenotype correlation, due to the rarity of the disease.

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