Publications by authors named "Olinda Marques"

22 Publications

  • Page 1 of 1

Follow-up of infants born to mothers with Graves' disease.

Endocrinol Diabetes Nutr 2021 Aug-Sep;68(7):472-480. Epub 2020 Dec 30.

Pediatric Endrocrinology Unit of Pediatric Department, Hospital de Braga, Braga, Portugal.

Introduction: The prevalence of neonatal hyperthyroidism (HN) due to maternal Graves Disease (GD) ranges from 0.1 to 2.7%. It may occur in pregnant women with the following: active DG, after treatment with radioactive iodine, anti-thyroid or thyroidectomy or with a previous child with hyperthyroidism. The aim of our observational study was to evaluate the follow-up of infants born to mothers with GD at a Tertiary Hospital prior to the implementation of a follow-up protocol.

Methods: This was a retrospective observational study using data from the medical records of mothers with a diagnosis of GD and their newborns from January 2013 until May 2018. Newborns were divided into two groups: high and low risk for NH according to maternal TRAb, third trimester treatment and signs of fetal hyperthyroidism.

Results: We identified 31 newborns, 58% female; 87% high risk. In none of the newborns was umbilical cord blood collected. In the high risk group, 22% had thyroid function evaluation at day-1, one patient presented with hyperthyroidism and 82% were asymptomatic. Considering the cases with an insufficient blood sample for analysis, 9 consultations would have been spared. We found a significant delay in obtaining the high-risk group results which would have spared 10 appointments. A positive correlation was found between age at outpatient clinic discharge and the number of appointments and the maternal TRAb titer.

Conclusion: The correct surveillance of pregnancy and newborns with identification of those at high risk is essential to avoid unnecessary consultations and blood analyses that increase parental anxiety and hospital costs. Consequently, a multidisciplinary protocol was created to standardize the approach.
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http://dx.doi.org/10.1016/j.endinu.2020.09.005DOI Listing
December 2020

Pituitary apoplexy induced by gonadotropin-releasing hormone agonist administration: a rare complication of prostate cancer treatment.

Endocrinol Diabetes Metab Case Rep 2020 Jun 4;2020. Epub 2020 Jun 4.

Department of Endocrinology, Hospital de Braga, Braga, Portugal.

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. Pituitary MRI revealed tumor enlargement and T1-hyperintense signal, compatible with recent bleeding sellar content. Laboratory endocrine workup was significant for low total testosterone. The patient was managed conservatively with high-dose steroids, and symptoms significantly improved. This case describes a rare phenomenon, pituitary apoplexy induced by GnRH agonist. We review the literature regarding this condition: the pathophysiological mechanism involved is not clearly established and several hypotheses have been proposed. Although uncommon, healthcare professionals and patients should be aware of this complication and recognize the signs, preventing a delay in diagnosis and treatment.

Learning Points: Pituitary apoplexy (PA) is a potentially life-threatening complication that can be caused by gonadotropin-releasing hormone agonist (GnRHa) administration for the treatment of advanced prostate cancer. This complication is rare but should be taken into account when using GnRHa, particularly in the setting of a known pre-existing pituitary adenoma. PA presents with classic clinical signs and symptoms that should be promptly recognized. Patients should be instructed to seek medical care if suspicious symptoms occur. Healthcare professionals should be aware of this complication, enabling its early recognition, adequate treatment and favorable outcome.
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http://dx.doi.org/10.1530/EDM-20-0018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7354737PMC
June 2020

Clinical Performance of Flash Glucose Monitoring System in Patients with Liver Cirrhosis and Diabetes Mellitus.

Sci Rep 2020 05 4;10(1):7460. Epub 2020 May 4.

Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal.

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. There were 2567 paired SMBG and FGMS values used in the accuracy analysis, with an overall mean absolute relative difference (MARD) of 12.68% in the LC group and 10.55% in the control group (p < 0,001). In patients with LC, the percentage of readings within Consensus Consensus Error Grid analysis Zone A and A + B were 80.36% and 99,26%, respectively. Sensor clinical accuracy was not affected by factors such as body mass index, age, gender, Child-Pugh score or edematoascitic decompensation. This is the first study to approach FGMS clinical accuracy in LC, revealing a potential usability of this system to monitor glycemic control in this population.
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http://dx.doi.org/10.1038/s41598-020-64141-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198519PMC
May 2020

Partial deficiency of 17α-hydroxylase: a rare cause of congenital adrenal hyperplasia.

BMJ Case Rep 2019 Dec 3;12(12). Epub 2019 Dec 3.

Endocrinology, Hospital de Braga, Braga, Portugal.

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. We report a case of a 30-year-old woman transferred to an endocrinology clinic for evaluation of autoimmune thyroiditis. She was started on oral contraceptives at the age of 13 due to oligomenorrhea and presented underdeveloped pubic and axillar hair and Tanner stage 3 breast development. Biochemical tests evidenced very low androgens levels and genetic analysis confirmed a CAH due to 17α-hydroxylase deficiency. Partial 17α-hydroxylase deficiency is a rare clinical entity, nevertheless, it should be included in the differential diagnosis of menstrual disorders.
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http://dx.doi.org/10.1136/bcr-2019-230778DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7001706PMC
December 2019

Lipoprotein(a) Change After Sleeve Gastrectomy Is Affected by the Presence of Metabolic Syndrome.

Obes Surg 2020 02;30(2):545-552

Department of Public Health and Forensic Sciences, and Medical Education, Medical Education Unit, Faculty of Medicine of the University of Porto, 4200-319, Porto, Portugal.

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. Anthropometric and metabolic parameters were recorded before and 12 months after surgery. Univariate analysis identified associations between Lp(a) and anthropometry and metabolic parameters, and the logistic regression predictors of Lp(a) decrease after VSG.

Results: MetS was present in 47% of the 330 patients involved. Patients with MetS had higher body mass index (BMI) and triglyceride levels and were more insulin-resistant. No differences were found between groups respecting Lp(a) levels prior to surgery (15.2 mg/dL vs. 15.0 mg/dL, p = 0.795). After surgery, patients without MetS had a decrease in Lp(a) levels (14.7 mg/dL vs. 12.3 mg/dL, p = 0.006), while MetS patients showed no differences (13.9 mg/dL vs. 14.6 mg/dL, p = 0.302). The regression model evidenced that older age and Δ HDL-c were predictors of Lp(a) decrease, whereas the greater the number of MetS components and lower estimated BF% loss, the lesser odds of decreasing Lp(a) after surgery.

Conclusions: Despite a global improvement of conventional CVD risk factors, only individuals without MetS showed a decrease of Lp(a) levels after VSG. Further studies should explore not only the pathophysiological mechanisms underlying the absence of decrease of Lp(a) levels in MetS patients, but also its impact on the metabolic beneficial changes usually observed after VSG.
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http://dx.doi.org/10.1007/s11695-019-04212-9DOI Listing
February 2020

High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism.

Sci Rep 2019 02 7;9(1):1597. Epub 2019 Feb 7.

CICS-UBI, Health Sciences Research Centre, University of Beira Interior, 6200-506, Covilhã, Portugal.

Congenital hypogonadotropic hypogonadism (CHH) is characterized by lack of normal pubertal development due to deficient gonadotropin-releasing hormone (GnRH) secretion or action, and is caused by genetic defects in several genes. Mutations in the CHD7 gene cause CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and development, Genital hypoplasia and Ear abnormalities), but have also been found in patients with isolated CHH. The aim of this study was to identify CHD7 mutations in patients with CHH. Fifty Portuguese patients with CHH were screened for mutations in the CHD7 gene by DNA sequencing. Eight (16%) patients had CHD7 rare sequence variants that consisted of six missense (p.Gly388Glu, p.His903Pro, p.Thr1082Ile, p.Val1452Leu, p.Asp1854Gly, and p.Arg2065His) and two synonymous (p.Ser559Ser, and p.Ala2785Ala) mutations. Five of these mutations have never been reported before. Three CHD7 mutations occurred in patients that had mutations in additional CHH-genes. This study uncovered novel genetic variants that expand the known spectrum of mutations associated with CHH. The frequency of CHD7 mutations in this cohort was higher than that of other major CHH-genes and confirms the importance of including CHD7 in the genetic testing of CHH, even in the absence of additional CHARGE features.
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http://dx.doi.org/10.1038/s41598-018-38178-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367338PMC
February 2019

Iron Deficiency and Obesity - Are we Diagnosing with Appropriate Indicators?

Acta Med Port 2018 Sep 28;31(9):478-482. Epub 2018 Sep 28.

Departamento de Endocrinologia. Hospital de Braga. Braga, Portugal; Consulta Multidisciplinar de Obesidade. Hospital de Braga. Braga. Portugal.

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.

Exclusion Criteria: prior bariatric surgery; lack of ferritin or hemoglobin determinations.

Results: We analyzed data from 215 patients (84.2% female) with a mean age of 42.0 ± 10.3 years. The median body mass index was 42.5 (40.0 - 46.8) kg/m2 and 52.1% had metabolic syndrome. Iron deficiency was present in 7.0%, with no differences between genders or between patients with or without metabolic syndrome. Hypertension was associated with lower prevalence of iron deficiency. Type 2 diabetes and hypertension patients had higher levels of ferritin. The multivariate analysis showed that metabolic syndrome and increasing body mass index were predictive of higher risk of iron deficiency while hypertension predicted lower odds of iron deficiency.

Discussion: The prevalence of iron deficiency was similar in other published studies. Iron deficiency may be underdiagnosed if based only on ferritin concentrations. In our study, diabetes and hypertension appear to contribute to the increase in ferritin levels described in obesity.

Conclusion: Ferritin may not be a reliable index for evaluating iron stores in obese patients, particularly when associated with comorbidities such as type 2 diabetes and hypertension. Further studies are needed to guide the diagnosis and iron supplementation in these patients.
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http://dx.doi.org/10.20344/amp.8916DOI Listing
September 2018

Macroprolactinomas: longitudinal assessment of biochemical and imaging therapeutic responses.

Endocrine 2018 11 7;62(2):470-476. Epub 2018 Aug 7.

Endocrinology Department, Hospital de Braga, Braga, Portugal.

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.

Results: We included 67 patients; 49.3% females, with median age at diagnosis of 43 years, 61.2% only treated with bromocriptine, 10.4% only with cabergoline, and 28.4% with both DA. Median follow-up time was 73 months. Prolactin levels normalized in 87%, mostly during the first 2 years. Prolactin levels after 6 months (HR 0.994, p = 0.012), 1 year (HR 0.970, p = 0.003), and 2 years (HR 0.970, p = 0.015) predicted its normalization time. Only 62% of the patients achieved a ≥50% reduction in maximum tumor diameter. Percent tumor diameter reduction after 1 year (OR 1.098, p = 0.022) and 2 years (OR 1.102, p = 0.008) predicted a ≥50% size reduction. Size reduction occurred later than prolactin normalization. Initial tumor diameter (HR 1.050, p = 0.032) and its percent reduction at 6 months (HR 1.110, p = 0.002), 1 (HR 1.060, p < 0.001), 2 (HR 1.045, p < 0.001), 3 (HR 1.048, p = 0.002), and 4 years (HR 1.074, p = 0.042) predicted the time until imaging response.

Conclusion: A significant number of patients did not obtain an imaging response. Biochemical and imaging responses were asynchronous and occurred mainly in the first 4 years of treatment. This may allow an earlier identification of partially resistant and resistant macroprolactinomas, with consequent change in the therapeutic approach.
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http://dx.doi.org/10.1007/s12020-018-1703-4DOI Listing
November 2018

Giant pituitary incidentaloma.

BMJ Case Rep 2018 Jul 11;2018. Epub 2018 Jul 11.

Department of Endocrinology, Hospital de Braga, Braga, Portugal.

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http://dx.doi.org/10.1136/bcr-2018-225485DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047686PMC
July 2018

Type 2 Diabetes Decompensation as the Clinical Presentation of Thyroid Storm - Cause or Consequence?

Eur Endocrinol 2017 Aug 22;13(2):99-101. Epub 2017 Aug 22.

Endocrinology Department, Hospital de Braga, Braga, Portugal.

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. He had no history of any recent intercurrent illness or infection. At the emergency room, besides hyperglycaemia, ketonemia and slightly elevated C-reactive protein, the basic laboratory panel workup was normal, as was the head computed tomography. He was admitted for metabolic compensation and to study the altered neurological status. During hospitalisation, despite the good glycemic control, he had no improvements in neurological status. At day four of hospitalisation, thyrotoxicosis with thyroid storm criteria was diagnosed. He started on adequate treatment with complete clinical recovery. The associated morbidity and mortality of thyroid storm requires immediate recognition and treatment. Elderly patients are frequently misdiagnosed or diagnosed later due to fewer and less pronounced signs and symptoms.
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http://dx.doi.org/10.17925/EE.2017.13.02.99DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5813473PMC
August 2017

Iatrogenic water intoxication in a female adolescent with hypopituitarism.

BMJ Case Rep 2018 Mar 9;2018. Epub 2018 Mar 9.

Pediatric Endocrinology Unit, Hospital de Braga, Braga, Portugal.

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 1.5 L to perform a pelvic ultrasound. In the following hours, she developed vomiting and food refusal. Blood analysis revealed hypoglycaemia, hyponatraemia, decreased serum osmolality and normal urinary density. Hyponatraemia and adrenal crisis were managed with a gradual but slow resolution of consciousness and electrolytic balance. This case describes an episode of iatrogenic water intoxication in a patient under desmopressin treatment. Although uncommon, dilutional hyponatraemia is the main complication of desmopressin treatment. We reinforce the importance of patients and caregivers' long-life education for the potential complications of an increase in fluid intake in patients treated with desmopressin.
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http://dx.doi.org/10.1136/bcr-2017-223021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5847927PMC
March 2018

Treatment of Graves' disease in children: The Portuguese experience.

Endocrinol Diabetes Nutr (Engl Ed) 2018 Mar 9;65(3):143-149. Epub 2018 Jan 9.

Division of Endocrinology, Centro Hospitalar Vila Nova de Gaia/Espinho, Portugal; Portuguese Society of Pediatric Endocrinology and Diabetology, Portugal.

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).

Patients And Methods: A retrospective analysis of data about pediatric GD treatment collected from a nationwide survey conducted by the Portuguese Society of Pediatric Endocrinology and Diabetology from May to August 2013. Population was categorized based on sex, age, use of ATDs, dosage, treatment duration, adverse reactions, thyrotropin receptor-stimulating antibody (TRAB) titer, remission and remission/relapse rates, and definitive treatment, and divided into group A (with ongoing treatment) and group B (with treatment stopped). Group B was subdivided into 'Remission', 'Remission+relapse' and 'No remission' subgroups based on the course of disease. The same parameters were compared between both groups.

Results: Survey response rate was 77%; 152 subjects, 116 female, mean age at diagnosis 11.23±3.46 years. They all started treatment with ATDs, 70.4% with thiamazole, with a mean treatment duration of 32.38±28.29 months, and 5.9% had adverse effects. Remission rate was 32.6%. Lower age at diagnosis correlated with higher remission rates. Treatment duration was longer when propylthiouracil was used. Initial TRAB titer was significantly higher in the 'No remission' group. Surgery and radioiodine were used as second-line treatments.

Conclusion: Our study results were similar to those reported in the literature. Age and TRAB titer were identified as potential clinical and laboratory determinants of remission. Based on risk/benefit analysis, it was concluded that treatment should be individualized based on age, accessibility to treatments, and physician's experience.
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http://dx.doi.org/10.1016/j.endinu.2017.11.014DOI Listing
March 2018

Toxic multinodular goitre: a surprising finding.

BMJ Case Rep 2017 Sep 12;2017. Epub 2017 Sep 12.

Pediatric Endocrinology Unit, Hospital de Braga, Braga, Portugal.

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http://dx.doi.org/10.1136/bcr-2017-221913DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5604688PMC
September 2017

Therapeutic challenge of a paediatric case of Graves' disease with severe ophthalmopathy.

BMJ Case Rep 2017 Mar 16;2017. Epub 2017 Mar 16.

Pediatric Endocrinology Unit, Hospital de Braga, Braga, Portugal.

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http://dx.doi.org/10.1136/bcr-2017-219269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5372195PMC
March 2017

A Pediatric Case of Cowden Syndrome with Graves' Disease.

Case Rep Pediatr 2017 31;2017:2750523. Epub 2017 Jan 31.

Anatomic Pathology Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, Portugal.

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). At the age of 15, he presented with intention tremor, palpitations, and marked anxiety. On examination, he had macrocephaly, coarse facies, slight prognathism, facial trichilemmomas, abdominal keratoses, leg hemangioma, and a diffusely enlarged thyroid gland. He started antithyroid drug (ATD) therapy with methimazole and, after a 2-year treatment period without achieving a remission status, a total thyroidectomy was performed. Diagnosis and management of CS should be multidisciplinary. Thyroid disease is frequent, but its management has yet to be fully defined. The authors present a case report of a pediatric patient with CS and GD and discuss treatment options.
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http://dx.doi.org/10.1155/2017/2750523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5306985PMC
January 2017

Severe systemic type 1 pseudohypoaldosteronism: 5 years of evolution.

Endocrinol Nutr 2016 Nov 18;63(9):502-505. Epub 2016 Sep 18.

Department of Pediatrics, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, Portugal.

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http://dx.doi.org/10.1016/j.endonu.2016.08.002DOI Listing
November 2016

Cardiovascular safety of type 2 diabetes medications: Review of existing literature and clinical implications.

Hormones (Athens) 2016 Apr;15(2):170-185

Department of Medical Education and Simulation, Faculty of Medicine, University of Porto, Porto, Portugal.

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. Given the cardiovascular adverse events associated with rosiglitazone, both the Food and Drug Administration and the European Medicines Agency currently require the demonstration of cardiovascular safety of new antidiabetic drugs. Consequently, clinical trials to guarantee their cardiovascular safety are now obligatory. This review aims to summarize the available evidence on the cardiovascular effects and safety of the major drugs used in T2DM treatment and also to provide an overview of upcoming and ongoing clinical trials in this field. Our belief is that this review will be of substantial assistance to all medical doctors who are treating diabetic patients, namely primary care physicians, internal medicine doctors, endocrinologists, diabetologists and less well experienced personnel such as young doctors in training.
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http://dx.doi.org/10.14310/horm.2002.1671DOI Listing
April 2016

Ten-year follow-up of a giant prolactinoma.

BMJ Case Rep 2015 Nov 20;2015. Epub 2015 Nov 20.

Department of Endocrinology, Hospital de Braga, Braga, Portugal Department of Pituitary Tumours Group, Hospital de Braga, Braga, Portugal.

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. A MRI demonstrated a pituitary tumour 76 mm in diameter and blood tests revealed a serum prolactin of 158,700 µU/mL (reference range 58-254). Initially, a craniotomy was performed. Immunohistochemistry of the tumour identified a prolactinoma with a high proliferative index and the patient was started on treatment with a dopamine agonist. A year later, neurological symptoms worsened due to regrowth of the lesion's cystic component, and so further surgery was performed. After 10 years of treatment with dopamine agonists, the prolactin levels decreased by 96.8%, there was an effective reduction in tumour size, and the neurological signs and symptoms resolved.
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http://dx.doi.org/10.1136/bcr-2015-212221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4680285PMC
November 2015

Mauriac syndrome still exists.

Endocrinol Nutr 2013 May 26;60(5):245-8. Epub 2013 Mar 26.

Consulta de Endocrinologia Pediatrica, Servicio de Pediatria, Hospital de Braga, Braga, Portugal.

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. The aim of this study was to describe the patients from a pediatric diabetic population that fulfill the criteria of MS.

Materials And Methods: A retrospective analysis of the pediatric diabetic population with diagnostic criteria of MS currently followed at Hospital de Braga, was performed.

Results: From a population of 91 patients with DM1 18 years, 6 patients with the criteria for MS were identified: 5 girls, and 1 boy. The age at presentation was 13-17 years, with a minimum interval between DM1 diagnosis and MS criteria of 4 years. All the patients were prescribed intensive insulin therapy (median daily insulin dose: 0.88 U/kg). All had a previous history of poor glycemic control before the diagnosis of MS with glycated hemoglobin (HbA1c) between 8.8 and 12.9%. Increase of hepatic enzymes was present in all the patients; 4 of them had associated hepatomegaly. All the girls presented puberty delay and cushingoid features. None of the patients presented short stature and 5 of them presented mixed dyslipidemia.

Conclusions: Although MS is an ancient entity described in DM1, it still exists, particularly in adolescent females. Being aware of MS is of extreme importance since most of the clinical features are reversible with better glycemic control.
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http://dx.doi.org/10.1016/j.endonu.2012.12.005DOI Listing
May 2013

A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene.

Endocrinol Nutr 2013 Jan 30;60(1):33-6. Epub 2012 Sep 30.

Neonatal Intensive Care Department, Hospital Braga, Portugal.

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. This mutation, which to our best knowledge has not been described before, was associated with a very severe phenotype requiring aggressive therapy.
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http://dx.doi.org/10.1016/j.endonu.2012.07.002DOI Listing
January 2013

Graves' disease associated with juvenile idiopathic arthritis.

Rev Bras Reumatol 2011 Mar-Apr;51(2):187-9

Centro Hospitalar do Médio Ave, Unidade de Famalicão, Hospital de S. Marcos, Braga, Portugal.

The authors report the case of a 10-year-old girl with Graves' disease (GD), treated with propylthiouracil, who developed uveitis and polyarticular arthritis, and whose mother also had GD and discoid lupus. The differential diagnosis of inflammatory arthritis that appears in a child with autoimmune thyroid disease managed with antithyroid drugs is discussed.
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November 2011

A randomized double-blind study comparing the efficacy and safety of orlistat versus placebo in obese patients with mild to moderate hypercholesterolemia.

Rev Port Cardiol 2009 Dec;28(12):1361-74

S. Endocrinologia, Hospital Militar Principal, Coimbra, Portugal.

Introduction: Obesity is a chronic disease and a serious health problem that leads to increased prevalence of diabetes, hypertension, dyslipidemia and gallbladder disease.

Objective: To evaluate the efficacy of orlistat for weight loss and improved lipid profile compared to placebo in obese patients with hypercholesterolemia, treated over a period of 6 months.

Methodology: In a 6-month, multicenter (10 centers in Portugal), double-blind, parallel, placebo-controlled study, 166 patients, aged 18-65 years, body mass index (BMI) > or = 27 kg/m2, LDL cholesterol > 155 mg/dl, were randomized to a reduced calorie diet (600 kcal/day deficit) plus orlistat three times a day or placebo. Exclusion criteria included triglycerides > 400 mg/dl, severe cardiovascular disease, uncontrolled hypertension, type 1 or 2 diabetes under pharmacological treatment, and gastrointestinal or pancreatic disease.

Results: The mean difference in weight from baseline was 5.9% (5.6 kg) in the orlistat group vs. 2.3% (2.2 kg) in the placebo group. In the orlistat group 49% of patients achieved 5-10% weight loss and 8.8% achieved > 10%. The orlistat group showed a significant reduction in total and LDL cholesterol, with similar changes for HDL in both treatment groups. The frequency of gastrointestinal adverse events was slightly higher in the orlistat group than in the placebo group, leading to discontinuation in 7 patients.

Conclusion: Treatment with orlistat plus a reduced calorie diet for 6 months achieved significant reductions in weight, BMI and lipid parameters.
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December 2009
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