Prevalence of sarcopenia in women at stable weight phase after Roux-en-Y gastric bypass

ABSTRACT Objective: Evaluating the prevalence of sarcopenia in women submitted to bariatric surgery - Roux-en-Y gastric bypass. Design: Observational, cross-sectional study. Subjects and methods: Women (18-65 years old) who underwent bariatric surgery (BG) ≥ 2 years and reached stable weight ≥ 6 months, were investigated. Control group (CG) comprised non-operated matched women with obesity. Body composition was determined through dual-energy X-ray absorptiometry. Low lean mass (LLM) was defined as appendicular lean mass index (ALM kg/height m2) < 5.5 kg/m2. Physical strength was assessed through dynamometer and sit-to-stand test (SST), whereas performance was assessed through 4-m gait speed and Short Physical Performance Battery Tests (SPPB). Sarcopenia was diagnosed in the presence of LLM and low strength. Results: One-hundred and twenty women (60 in each group, 50 ± 9.7 years old) were investigated. All anthropometric and body composition parameters were lower in BG than in CG, whereas strength and performance were similar between groups. Women with reduced strength presented high total fat mass and low physical activity level (p < 0.005). LLM was observed in 35% of BG and in 18.3% of CG (p = 0.04), whereas sarcopenia was diagnosed in 28.3% of BG and in 16.6% of CG (p = 0.12). Sarcopenic women in BG had better performance both in SST (p = 0.001) and SPPB (p = 0.004). Total lean mass (OR:1.41, 95% CI [1.18; 1.69], p < 0.001) and obesity (OR: 38.2 [2.27; 644.12], p < 0.001) were associated with sarcopenia in the multivariate analysis. Conclusion: Despite great weight loss, sarcopenia prevalence did not increase in BG and its presence was influenced by total lean mass and obesity.

Proposal of an obesity classification based on weight history: an official document by the Brazilian Society of Endocrinology and Metabolism (SBEM) and the Brazilian Society for the Study of Obesity and Metabolic Syndrome (ABESO)

ABSTRACT Obesity is a chronic disease associated with impaired physical and mental health. A widespread view in the treatment of obesity is that the goal is to normalize the individual's body mass index (BMI). However, a modest weight loss (usually above 5%) is already associated with clinical improvement, while weight losses of 10%-15% bring even further benefits, independent from the final BMI. The percentage of weight reduction is accepted as a treatment goal since a greater decrease in weight is frequently difficult to achieve due to metabolic adaptation along with environmental and lifestyle factors. In this document, the Brazilian Society of Endocrinology and Metabolism (SBEM) and the Brazilian Society for the Study of Obesity and Metabolic Syndrome (ABESO) propose a new obesity classification based on the maximum weight attained in life (MWAL). In this classification, individuals losing a specific proportion of weight are classified as having "reduced" or "controlled" obesity. This simple classification - which is not intended to replace others but to serve as an adjuvant tool - could help disseminate the concept of clinical benefits derived from modest weight loss, allowing individuals with obesity and their health care professionals to focus on strategies for weight maintenance instead of further weight reduction. In future studies, this proposed classification can also be an important tool to evaluate possible differences in therapeutic outcomes between individuals with similar BMIs but different weight trajectories.

Relations between serum magnesium and calcium levels and body composition and metabolic parameters in women with fibromyalgia

Abstract Objective: Correlate serum magnesium (Mg) and Calcium (Ca) levels with body composition and metabolic parameters in women with fibromyalgia (FM). Patients and methods: Cross-sectional study compared with a control group paired by age and body mass index (BMI) of adult women diagnosed with fibromyalgia. All participants went through assessment of their body composition through dual-energy X-ray absorptiometry (DXA) and had blood samples collected for dosing of Mg, Ca, C-reactive Protein (CRP), lipidogram and glycemia. Results: 53 women with FM (average age 48.1 ±8.2 years, average BMI 26.6 ±4.5 kg/m2) and 50 control women (average age 47.1 ±9.9 years, average BMI 25.6 ± 3.6 kg/m2) participated in the study. Serum levels turned out to have inverse correlation with CRP in the FM group (r = −0.29, p = 0.03) and with BMI and glycemia in the control group (r = 0.31; p = 0.02 and r = 0.48; p = 0.0004 respectively). Serum levels of calcium correlated with triglycerides (r = 0.29; p = 0.03) in the FM group and with glycemia in the control group (r = 0.64; p = 0.0001). Conclusions: In patients with FM, magnesemia turned out to have inverse correlation with CRP and calcemia had positive association with triglycerides.(AU)

Body composition and nutritional and metabolic parameters in postmenopausal women sufficient, insufficient and deficient in vitamin D

ABSTRACT Objective We investigated changes in body composition and nutritional and metabolic parameters in a group of postmenopausal women who were classified as sufficient, insufficient and deficient in vitamin D. Subjects and methods A total of 106 postmenopausal women were included in this cross-sectional study and classified according to their serum levels of 25-OH-vitamin D as sufficient (≥ 30 ng/mL; group S), insufficient (20.1 and 29.9 ng/mL; group I) or deficient (≤ 20 ng/mL; group D) in vitamin D. Body composition was measured by dual-energy X-ray absorptiometry (DXA); dietary recall questionnaires were completed; and blood samples were analysed to compare the metabolic and nutritional status of the study groups. Results Eleven (10.4%) of the women were classified in group S, 50 (47.2%) in group I and 45 (42.4%) in group D, with a mean serum level for 25-OH-D of 21.1 ± 7.0 ng/mL in all participants. Body composition did not differ among the groups. Serum levels of 25-OH-D were negatively correlated with serum levels of triglycerides, total cholesterol and LDL cholesterol. Conclusions Vitamin D insufficiency and deficiency were highly prevalent in our group of postmenopausal women, showing an association with an unfavourable lipid profile.

Relation between magnesium and calcium and parameters of pain, quality of life and depression in women with fibromyalgia

Abstract Objective: Determine food intake and levels of serum magnesium (Mg) and calcium (Ca) and correlate these minerals with pain, quality of life and depression risk in women with and without fibromyalgia (FM). Patients and methods: Fifty-three women diagnosed with FM and 50 healthy women participated in the study, where all of them had equivalent age and body mass index (BMI). All women underwent anthropometric assessment, physical exams of pain perception threshold and tender point (TP) count, blood sample collection, and filling out of FM impact questionnaire (FIQ), Patient Health Questionnaire-9 (PHQ-9), and 3-day dietary record (DR). Results: Dietary intake of Mg and Ca was substantially lower by women with FM. There were no differences in levels of serum Mg and Ca in the groups under analysis. For the FM group, dietary intake of Mg and Ca had inverse correlation with TP and direct relation with the pain threshold. Conclusions: Although women with FM had lower dietary intake of Mg and Ca, serum levels for these nutrients were not different between the groups. Low dietary intake of minerals correlated with worsened pain threshold parameters.

Controversial issues in the management of hyperprolactinemia and prolactinomas - An overview by the Neuroendocrinology Department of the Brazilian Society of Endocrinology and Metabolism

ABSTRACT Prolactinomas are the most common pituitary adenomas (approximately 40% of cases), and they represent an important cause of hypogonadism and infertility in both sexes. The magnitude of prolactin (PRL) elevation can be useful in determining the etiology of hyperprolactinemia. Indeed, PRL levels > 250 ng/mL are highly suggestive of the presence of a prolactinoma. In contrast, most patients with stalk dysfunction, drug-induced hyperprolactinemia or systemic diseases present with PRL levels < 100 ng/mL. However, exceptions to these rules are not rare. On the other hand, among patients with macroprolactinomas (MACs), artificially low PRL levels may result from the so-called "hook effect". Patients harboring cystic MACs may also present with a mild PRL elevation. The screening for macroprolactin is mostly indicated for asymptomatic patients and those with apparent idiopathic hyperprolactinemia. Dopamine agonists (DAs) are the treatment of choice for prolactinomas, particularly cabergoline, which is more effective and better tolerated than bromocriptine. After 2 years of successful treatment, DA withdrawal should be considered in all cases of microprolactinomas and in selected cases of MACs. In this publication, the goal of the Neuroendocrinology Department of the Brazilian Society of Endocrinology and Metabolism (SBEM) is to provide a review of the diagnosis and treatment of hyperprolactinemia and prolactinomas, emphasizing controversial issues regarding these topics. This review is based on data published in the literature and the authors' experience.

A review of Cushing's disease treatment by the Department of Neuroendocrinology of the Brazilian Society of Endocrinology and Metabolism

ABSTRACT The treatment objectives for a patient with Cushing's disease (CD) are remission of hypercortisolism, adequate management of co-morbidities, restoration of the hypothalamic-pituitary-adrenal axis, preservation of fertility and pituitary function, and improvement of visual defects in cases of macroadenomas with suprasellar extension. Transsphenoidal pituitary surgery is the main treatment option for the majority of cases, even in macroadenomas with low probability of remission. In cases of surgical failure, another subsequent pituitary surgery might be indicated in cases with persistent tumor imaging at post surgical magnetic resonance imaging (MRI) and/or pathology analysis of adrenocorticotropic hormone-positive (ACTH+) positive pituitary adenoma in the first procedure. Medical treatment, radiotherapy and adrenalectomy are the other options when transsphenoidal pituitary surgery fails. There are several options of medical treatment, although cabergoline and ketoconazole are the most commonly used alone or in combination. Novel treatments are also addressed in this review. Different therapeutic approaches are frequently needed on an individual basis, both before and, particularly, after surgery, and they should be individualized. The objective of the present review is to provide the necessary information to achieve a more effective treatment for CD. It is recommended that patients with CD be followed at tertiary care centers with experience in treating this condition.

Endoscopic versus microscopic transsphenoidal surgery in the treatment of pituitary tumors: systematic review and meta-analysis of randomized and non-randomized controlled trials

ABSTRACT We conducted a systematic review and meta-analysis of randomized and non-randomized controlled trials that compared pure endoscopic with microscopic transsphenoidal surgery (TSS) in the resection of pituitary tumors. Embase, PubMed, Lilacs, and Central Cochrane were used as our data sources. The outcomes were total tumor resection, achievement of biochemical control of functioning adenomas, hospital stay and surgery complications. The randomized trials were analyzed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) approach. Two randomized and three prospective controlled non-randomized studies were included. Two studies, including 68 patients, evaluated total tumor resection and the meta-analysis did not show differences between the groups [RR: 1.45 (95% CI: 0.87, 2.44)]. Three studies involving 65 patients analyzed the achievement of biochemical control and no statistical difference was found [RR: 0.94 (95% CI: 0.7, 1.26)]. All five studies compared the frequency of postoperative complications between intervention and control group and meta-analysis favored for a low rate of postoperative complications in the endoscopic TSS group [(RR: 0.37 (95% CI: 0.16, 0.83)]. Due to the low evidence level and low number of observations, the results of our meta-analysis should not be viewed as a final proof of inferiority or superiority of one approach in relation to the other. More data including higher numbers of observations are needed.

Recommendations of the Neuroendocrinology Department of the Brazilian Society of Endocrinology and Metabolism for the diagnosis of Cushing's disease in Brazil

ABSTRACT Although it is a rare condition, the accurate diagnosis and treatment of Cushing’s disease is important due to its higher morbidity and mortality compared to the general population, which is attributed to cardiovascular diseases, diabetes mellitus and infections. Screening for hypercortisolism is recommended for patients who present multiple and progressive clinical signs and symptoms, especially those who are considered to be more specific to Cushing’s syndrome, abnormal findings relative to age (e.g., spinal osteoporosis and high blood pressure in young patients), weight gain associated with reduced growth rate in the pediatric population and for those with adrenal incidentalomas. Routine screening is not recommended for other groups of patients, such as those with obesity or diabetes mellitus. Magnetic resonance imaging (MRI) of the pituitary, the corticotropin-releasing hormone (CRH) test and the high-dose dexamethasone suppression test are the main tests for the differential diagnosis of ACTH-dependent Cushing’s syndrome. Bilateral and simultaneous petrosal sinus sampling is the gold standard method and is performed when the triad of initial tests is inconclusive, doubtful or conflicting. The aim of this article is to provide information on the early detection and establishment of a proper diagnosis of Cushing’s disease, recommending follow-up of these patients at experienced referral centers. Arch Endocrinol Metab. 2016;60(3):267-86.

Sarcopenia in COPD: relationship with COPD severity and prognosis / Sarcopenia na DPOC: relação com a gravidade e o prognóstico da DPOC

Objective: To evaluate the prevalence of sarcopenia in COPD patients, as well as to determine whether sarcopenia correlates with the severity and prognosis of COPD.Methods: A cross-sectional study with COPD patients followed at the pulmonary outpatient clinic of our institution. The patients underwent dual-energy X-ray absorptiometry. The diagnosis of sarcopenia was made on the basis of the skeletal muscle index, defined as appendicular lean mass/height2 only for low-weight subjects and adjusted for fat mass in normal/overweight subjects. Disease severity (COPD stage) was evaluated with the Global Initiative for Chronic Obstructive Lung Disease (GOLD) criteria. The degree of obstruction and prognosis were determined by the Body mass index, airflow Obstruction, Dyspnea, and Exercise capacity (BODE) index.Results: We recruited 91 patients (50 females), with a mean age of 67.4 ± 8.7 years and a mean BMI of 25.8 ± 6.1 kg/m2. Sarcopenia was observed in 36 (39.6%) of the patients, with no differences related to gender, age, or smoking status. Sarcopenia was not associated with the GOLD stage or with FEV1 (used as an indicator of the degree of obstruction). The BMI, percentage of body fat, and total lean mass were lower in the patients with sarcopenia than in those without (p < 0.001). Sarcopenia was more prevalent among the patients in BODE quartile 3 or 4 than among those in BODE quartile 1 or 2 (p = 0.009). The multivariate analysis showed that the BODE quartile was significantly associated with sarcopenia, regardless of age, gender, smoking status, and GOLD stage.Conclusions: In COPD patients, sarcopenia appears to be associated with unfavorable changes in body composition and with a poor prognosis.

Objetivo: Avaliar a prevalência de sarcopenia em pacientes com DPOC e determinar se sarcopenia está correlacionada com a gravidade e o prognóstico de DPOC.Métodos: Estudo retrospectivo em pacientes com DPOC atendidos no ambulatório de pneumologia de nossa instituição. Os pacientes realizaram absorciometria de dupla energia por raios X. O diagnóstico de sarcopenia foi baseado no índice de massa muscular esquelética, definido como massa magra apendicular/altura2 somente para indivíduos com baixo peso, sendo ajustado pela massa gorda para aqueles com peso normal/sobrepeso. A gravidade da doença (estádio da DPOC) foi avaliada com os critérios da Global Initiative for Chronic Obstructive Lung Disease (GOLD). O grau de obstrução e o prognóstico foram determinados pelo índice Body mass index, airflow Obstruction, Dyspnea, and Exercise capacity (BODE).Resultados: Foram incluídos 91 pacientes (50 mulheres), com média de idade de 67,4 ± 8,7 anos e média de IMC de 25,8 ± 6,1 kg/m2. Sarcopenia foi diagnosticada em 36 (39,6%) dos pacientes, sem diferenças relacionadas a sexo, idade ou status tabágico. Não houve associação de sarcopenia com estádios GOLD ou VEF1 (utilizado como indicador do grau de obstrução). O IMC, a porcentagem de gordura corporal e a massa magra total foram menores nos pacientes com sarcopenia do que naqueles sem a doença (p < 0,001). A prevalência de sarcopenia foi maior nos pacientes com BODE nos quartis 3 ou 4 que naqueles com BODE nos quartis 1 ou 2 (p = 0,009). A análise multivariada mostrou que os quartis do BODE estavam significativamente associados à sarcopenia, independentemente de idade, gênero, status tabágico e estádio GOLD.Conclusões: Em pacientes com DPOC, sarcopenia parece estar associada a alterações desfavoráveis na composição corporal e pior prognóstico.

Vitamin D deficiency in children and adolescents submitted to hematopoietic stem cell transplantation

Background: Sub-optimal levels of vitamin D have been found to be highly prevalent in all age groups, with epidemiologic studies demonstrating a link between vitamin D deficiency and disease susceptibility, such as infection and cancer, and mortality rates. In adult transplant patients, it has been suggested that the immunomodulatory properties of vitamin D may have an important role in the prevention and treatment of graft-versus-host disease. Objective: The objective of this study was to assess serum 25-hydroxyvitamin D levels of children and adolescents submitted to allogeneic hematopoietic stem cell transplantation. Methods: Serum 25-hydroxyvitamin D levels of 66 patients, aged 4-20 years, were assessed at three stages: before hospitalization for hematopoietic stem cell transplantation and at 30 and 180 days after hematopoietic stem cell transplantation. The control group consisted of 25 healthy children. Results: At the pre-hematopoietic stem cell transplantation stage, patients had lower levels of 25-hydroxyvitamin D compared to controls (25.7 ± 12.3 ng/mL vs. 31.9 ± 9.9 ng/mL; p-value = 0.01), and a higher prevalence of 25-hydroxyvitamin D deficiency (32% vs. 8%; p-value = 0.01). Prevalence increased significantly after hematopoietic stem cell transplantation (p-value = 0.01) with half of the patients having vitamin D deficiency at 180 days after transplantation. At this stage, mean serum 25-hydroxyvitamin D levels were 20.9 ± 10.9 ng/mL, a significant decline in relation to baseline (p-value = 0.01). No correlation was found between 25-hydroxyvitamin D levels and vitamin D intake, graft-versus-host disease, corticoid use or survival rates...

Ocorrência de adenomas pituitários correlacionados a idade e sexo em centros de referências para tratamento neurocirúrgico de patologia selar / Occurrence of pituitary adenomas correlated with age and gender in reference centers for neurosurgical sellar pathology

Avaliar a incidência dos adenomas pituitários (AP) em centros de referência no tratamentoda patologia selar, em uma área geográ#ca bem delimitada, analisando-os de acordo com o sexo ea idade dos pacientes no momento do ato neurocirúrgico. Métodos: Realizado estudo retrospectivodos pacientes submetidos a tratamento neurocirúrgico via transesfenoidal realizado pelo neurocirurgiãosênior (LABB), com imunoistoquímica compatível com adenoma hipo#sário. Resultados: Entre os 231casos selecionados, os adenomas pituitários não funcionantes foram os mais comuns. Em relação àslesões ditas funcionantes, houve predomínio dos produtores do hormônio do crescimento (GH). Asuperioridade dos não funcionantes em números absolutos e do GH no subgrupo das lesões produtorasé válida tanto na análise geral dos dados quanto na estrati#cação da população estudada por sexo. Ospacientes foram agrupados, conforme a idade, em décadas de vida, com predomínio de doentes tratadoscirurgicamente entre 30 e 40 anos. A relação masculino:feminino foi de 1:1,69. Conclusão: A escassezde dados não permite uma análise global mais #dedigna da distribuição dos adenomas pituitários comreferência ao subgrupo, idade e sexo. Nossos dados são destoantes dos de outras publicações emalguns dos aspectos analisados, o que pode conotar diferenças epidemiológicas regionais dos AP...

To evaluate the incidence of pituitary adenomas (PA) in reference centers for the treatment of sellar disease in a well-defined geographical area, analyzing them according to sex and age of patients at the time of the neurosurgery. Methods: A retrospective study of patients undergoing transsphenoidal neurosurgical made by senior neurosurgeon (LABB), with immunohistochemistry consistent with pituitary adenoma. Results: Of the 231 selected cases, nonfunctioning pituitary adenomas were the most common. In relation to the functioning lesions happens a predominance of the producers of growth hormone (GH). The superiority of nonfunctioning in absolute numbers and in the subgroup of GH-producing lesions is valid both in the overall analysis of the data, and the stratification of the study population by sex. Patients were grouped according to age in decades of life, with a predominance of patients treated surgically between 30 and 40 years. The male: female ratio was 1:1,69. Conclusion: The lack of data does not allow a more accurate overall assessment of the pituitary adenomas distribution with respect to the subgroup, age and sex. Our data are divergent from other publications in some of the aspects analyzed, which may connote regional epidemiological differences of AP...

Postoperative structural complications after microscopic transsphenoidal surgery of GH secreting pituitary adenomas / Complicações estruturais pós-operatórias após microcirurgia transesfenoidal de adenomas pituitários produtores de GH

Objective: Analyzing the rate of structural complications after transsphenoidal surgery for removal of growth hormone (GH) secreting pituitary adenomas. Methods: Retrospective study of 58 patients who underwent microscopic transsphenoidal neurosurgery for GH secreting pituitary adenomas exeresis in Curitiba, Parana state, Brazil, between 1998 and 2011 by the same neurosurgeon. The Criteria for diagnosis of complications were clinical. Results: Five (8,6%) of the 58 patients who underwent transsphenoidal surgery developed postoperative anatomical complications, which was due to sixth cranial nerve palsy (3,4%), surgical wound infection (1,7%) and CSF fistula (3,4%). Conclusion: The rate of postoperative complications observed in the present study is likely the literature review. There is a drop in the rate of complications with increasing experience of the neurosurgeon.

Objetivo: Analisar a taxa de complicações anatômicas após cirurgia transesfenoidal para remoção de adenoma hipofisário produtor de hormônio do crescimento (GH). Métodos: Estudo retrospectivo de 58 pacientes operados por microcirurgia transesfenoidal para exérese de adenomas pituitários produtores de GH em Curitiba, Paraná, Brasil, entre 1998 e 2011, realizados pelo mesmo neurocirurgião. Diagnóstico das complicações foi clínico. Resultados: Dos 58 pacientes submetidos à cirurgia transesfenoidal, 5 (8,6%) desenvolveram complicações anatômicas, 3,4% foram em decorrência de paresia temporária do sexto nervo craniano, 1,7%, de infecção da ferida operatória, e 3,4%, de fístula liquórica. Conclusão: A taxa de complicações pós-operatórias observada no presente estudo está semelhante à da revisão literária. Há uma queda no índice de complicações conforme aumenta a experiência do neurocirurgião.

Genetic studies in a coexistence of acromegaly, pheochromocytoma, gastrointestinal stromal tumor (GIST) and thyroid follicular adenoma / Estudos genéticos na coexistência de acromegalia, feocromocitoma, tumor do estroma gastrointestinal (GIST) e adenoma folicular de tireoide

We report on an adult woman with rare coexistence of acromegaly, pheochromocytoma (PHEO), gastrointestinal stromal tumor (GIST), intestinal polyposis, and thyroid follicular adenoma. At the age of 56, she was diagnosed with acromegaly caused by a pituitary macroadenoma, treated by transsphenoidal surgery, radiotherapy, and octreotide. During routine colonoscopy, multiple polyps were identified as tubular adenomas with high-grade dysplasia on histology. Years later, an abdominal mass of 8.0 x 6.2 cm was detected by routine ultrasound. Surgical exploration revealed an adrenal mass and another tumor adhered to the lesser gastric curvature, which were removed. Pathology confirmed the diagnosis of PHEO and GIST. PHEO immunohistochemistry was negative for GHRH. During follow-up, nodular goiter was found with normal levels of calcitonin and inconclusive cytology. Near-total thyroidectomy was performed, revealing a follicular adenoma. Her family history was negative for all of these tumor types. Genetic analysis for PHEO/paraganglioma genes (SDH A-D, SDHAF2, RET, VHL, TMEM127, and MAX), and pituitary-related genes (AIP, MEN1, and p27) were negative. Though the finding of PHEO and acromegaly with multiple other tumors could be a fortuitous coexistence, we suggest that this case may represent a new variant of MEN syndrome with a de novo germline mutation in a not yet identified gene. Arq Bras Endocrinol Metab. 2012;56(8):507-12.

Relatamos o caso de uma mulher com rara coexistência de acromegalia, feocromocitoma (FEO), tumor do estroma gastrointestinal (GIST), polipose intestinal e adenoma folicular de tireoide. Aos 56 anos, ela foi diagnosticada com acromegalia por um macroadenoma hipofisário, tratado com cirurgia transesfenoidal, radioterapia e octreotide. Uma colonoscopia de rotina detectou múltiplos pólipos, que à histologia eram adenomas tubulares com alto grau de displasia. Anos mais tarde, uma ecografia detectou uma massa abdominal de 8.0 x 6.2 cm, que na exploração cirúrgica era uma lesão adrenal e outro tumor aderido à pequena curvatura gástrica. A patologia confirmou os diagnósticos de FEO e GIST. A imuno-histoquímica do FEO foi negativa para GHRH. No seguimento, encontrou-se um bócio nodular com níveis normais de calcitonina e citologia inconclusiva. Após tireoidectomia total o diagnóstico histológico foi de adenoma folicular. A história familiar era negativa para todos esses tumores. As análises genéticas para genes de síndromes de FEO/paragangliomas (SDH A-D, SDHAF2, RET, VHL, TMEM127 e MAX) e para hipofisárias (AIP, MEN1 e p27) foram todas negativas. Embora a presença de FEO e acromegalia com múltiplos outros tumores possa ser uma coexistência fortuita, acreditamos na possibilidade de uma nova variante de NEM com uma mutação germinativa de novo em um gene ainda não identificado Arq Bras Endocrinol Metab. 2012;56(8):507-12.

The brazilian version of the Quality of Life Assessment of Growth Hormone Deficiency in Adults (QoL-AGHDA): Four-stage translation and validation / Versão brasileira do questionário "Quality of Life - Assessment of Growth Hormone Deficiency in Adults" (QoL-AGHDA): Tradução e validação em quatro estágios

OBJECTIVE: This study reports on the Brazilian Portuguese adaptation of the QoL-AGHDA (Quality of Life Assessment of Growth Hormone Deficiency in Adults) for use in adult growth hormone deficient (GHD) patients. MATERIALS AND METHODS: The translation process adopted the dual panel methodology. The questionnaire was tested through field-test interviews (16 GHD patients). In the final stage, data from 120 GHD patients (81 included in a test-retest analysis) were analyzed for internal consistency, test-retest reliability, convergent validity and validity among known groups. RESULTS: The translation panels were successful and the draft version was amended to improve the wording as a result of the field-test interviews. Cronbach's alpha was 0.90 and test-retest reliability 0.88. QoL-AGHDA scores had the expected pattern of association with NHP scale scores and QoL-AGHDA was able to differentiate significantly between patients based on patient-reported general health (p < 0.01) and QoL (p < 0.01). CONCLUSIONS: The adaptation of the QoL-AGHDA for a Brazilian population was successful and the adapted questionnaire was shown to be reliable and valid.

OBJETIVO: Este estudo relata o processo de adaptação da versão brasileira do questionário QoL-AGHDA (Quality of Life - Assessment of Growth Hormone Deficiency in Adults) para pacientes com deficiência do hormônio de crescimento (DGH). MATERIAIS E MÉTODOS: A tradução adotou a metodologia de duplo painel. O questionário foi testado por intermédio de entrevistas direcionadas com 16 pacientes com DGH. No estágio final, dados de 120 pacientes com DGH (81 com teste/reteste) foram analisados para consistência interna, confiabilidade teste/reteste, validade convergente e validade entre grupos conhecidos. RESULTADOS: Os grupos de tradução foram bem-sucedidos e a versão final foi adaptada seguindo sugestões obtidas das entrevistas com os 16 pacientes. O coeficiente alfa de Cronbach foi 0,90, confiabilidade teste/reteste 0,88, escores QoL-AGHDA se correlacionaram com o NHP (p < 0,01) e também com a saúde geral relatada pelos pacientes (p < 0,01). CONCLUSÕES: A adaptação do QoL-AGHDA para a população brasileira foi bem-sucedida, e a nova versão demonstrou ser válida e confiável.

Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1 / Aplicação de teste genético para definição da conduta cirúrgica num caso esporádico de neoplasia endócrina múltipla do tipo 1

We report the use of a genetic test for therapeutic decision making in a case of primary hyperparathyroidism associated with Cushing's disease (CD). A 20-year-old woman was evaluated for gradual weight gain, asthenia, muscle pain, and hypertension. Biochemical and radiologic tests confirmed CD and she underwent transsphenoidal surgery. Immunohistochemistry of the microadenoma was positive for adrenocorticotropic hormone (ACTH). On follow-up, hypercalcemia with high parathyroid hormone (PTH) levels was detected, associated with nephrolithiasis and low bone mineral density in the spine and hip. Parathyroid scintigraphy showed tracer uptake in the inferior region of the left thyroid lobe, and cervical ultrasound showed a heterogeneous nodule in the same area, suggestive of a parathyroid adenoma (PA). Genetic testing detected mutation in the MEN 1 gene and total parathyroidectomy with the implantation of a fragment of one gland in the forearm was performed. Pathology showed a PA and 3 normal parathyroid glands, without hyperplasia, despite the diagnosis of MEN 1. This case illustrates the role of genetic testing in defining the therapeutic approach for sporadic MEN 1.

Relatamos o uso de teste genético para decisão terapêutica em um caso de hiperparatireoidismo primário associado com doença de Cushing (DC). Uma jovem de 20 anos foi avaliada por ganho de peso gradual, astenia, mialgias e hipertensão. Os exames complementares confirmaram DC e ela foi submetida à cirurgia transesfenoidal. A análise imuno-histoquímica do microadenoma foi positiva para hormônio adrenocorticotrófico (ACTH). No seguimento, a paciente apresentou hipercalcemia com níveis elevados de hormônio de paratireoide (PTH), nefrolitíase e densidade mineral óssea baixa em coluna e fêmur. A cintilografia de paratireoide mostrou captação do traçador em região inferior do lobo esquerdo da tireoide e a ecografia cervical revelou nódulo heterogêneo na mesma área, sugestivo de adenoma da paratireoide (AP). O teste genético detectou mutação no gene MEN 1 e ela foi submetida à paratireoidectomia total com implante de fragmento de uma das glândulas no antebraço. A patologia confirmou AP e as outras três glândulas normais, sem hiperplasia, apesar do diagnóstico de MEN 1. Esse caso ilustra a importância do teste genético para definir a abordagem terapêutica em um caso esporádico de MEN 1.

Deficiencia de hormona de crecimiento en el adulto ¿debe tratarse? / Growth Hormone Deficiency (GHD) in Adults: To Treat or Not To Treat?

Over the last decade, different guidelines have been published for the diagnosis, treatment and monitoring of adult growth hormone deficiency (AGHD). Themes and recommendations common to the guidelines offer a pragmatic approach to the management of AGHD. Nevertheless, there is a need for more research in some key areas in which recommendations in the guidelines are supported by moderate evidence, at best. Recent meta-analysis and long-term follow-up studies have contributed with valuable information on the efficacy and safety of GH therapy in adults. This review brings a historical perspective of the AGHD, with an emphasis on the following aspects: (I) who are the appropriate candidates for GH therapy in adult life? (II) how to make the diagnosis (III) the impact of GH therapy; (IV) which therapeutic approach should be used? (V) how to follow and monitor the patients; and (VI) special aspects on mortality and longevity related to the GH-IGF-1 axis.