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1.
Endocrinol. diabetes nutr. (Ed. impr.) ; 66(3): 140-149, mar. 2019. tab
Artigo em Espanhol | IBECS | ID: ibc-182613

RESUMO

La prevalencia de la obesidad se ha incrementado mundialmente en las últimas décadas. La obesidad se asocia a múltiples comorbilidades, como la diabetes tipo 2, que generan un gran impacto en la salud y en la economía. La pérdida de peso en este colectivo favorece el control glucémico, por lo que es uno objetivo a lograr. Los cambios en el estilo de vida son poco efectivos por sí solos, y en los últimos años se han desarrollado otras opciones terapéuticas como la cirugía bariátrica/metabólica, así como fármacos para la diabetes tipo 2 y fármacos para reducir peso en la obesidad. El objetivo de la revisión es la comparación de los resultados en reducción de peso y control glucémico de los distintos tipos de fármacos con los resultados de la cirugía bariátrica/metabólica en diabetes tipo 2


The prevalence of obesity has increased worldwide over the past decades. Obesity is associated with multiple comorbidities, such as type 2 diabetes, that generates a great impact on health and economy. Weight loss in these patients leads to glycemic control so it is a target to achieve. Lifestyle changes are not effective enough and recently other treatments have been developed such as bariatric/metabolic surgery, as well as drugs for type 2 diabetes and antiobesity drugs. The aim of this review is to compare the results in weight reduction and glycemic control of the different kinds of drugs with bariatric / metabolic surgery's results in type 2 diabetes


Assuntos
Humanos , Diabetes Mellitus Tipo 2/terapia , Obesidade/epidemiologia , Redução de Peso , Índice Glicêmico , Terapia Combinada/tendências , Cirurgia Bariátrica , Obesidade/tratamento farmacológico , Simportadores/administração & dosagem , Orlistate/administração & dosagem , Liraglutida/administração & dosagem , Naltrexona/administração & dosagem , Obesidade/fisiopatologia
2.
Obes Surg ; 29(4): 1105-1116, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30604080

RESUMO

BACKGROUND: Bariatric surgery has demonstrated to be effective in remission of type 2 diabetes in obese patients, but it is unclear in non-obese patients. The aim of this study is to investigate if metabolic surgery is effective in diabetes resolution in patients with BMI < 30 kg/m2. MATERIALS AND METHODS: A systematic review was performed and the content of the PubMed, Ovid, and the Cochrane Library databases covering the period January 2008 to April 2018 was searched. Studies with metabolic surgery performed in patients with type 2 diabetes, BMI < 30 kg/m2 and a follow-up ≥ 6 months were included. Type 2 diabetes remission rate and metabolic parameters changes were measured. A meta-analysis was conducted with the selected studies. RESULTS: Twenty-six studies were included in the meta-analysis (1105 patients). The mixed-effects meta-analysis model for overall diabetes remission rate produced an estimate of 43% (95% IC 34-53%, p < 0.001). Moderator effects of the variables race, preoperative HbA1c, BMI, months of follow-up, duration of diabetes, and age on diabetes remission were also assessed, with no significant effects being found in any of them. A reduction in BMI (- 3.57 kg/m2), fasting blood glucose (- 55.93 mg/dL) and HbA1c (- 2.08%) was observed after surgery. CONCLUSIONS: Metabolic surgery could be effective in remission of type 2 diabetes in BMI < 30 kg/m2 patients but randomized and long-term studies are necessary. The scientific community should agree in a single definition of type 2 diabetes remission, in order to know the real effect of metabolic surgery in this group of patients.


Assuntos
Cirurgia Bariátrica , Diabetes Mellitus Tipo 2/cirurgia , Adulto , Índice de Massa Corporal , Diabetes Mellitus Tipo 2/sangue , Feminino , Hemoglobinas Glicadas/análise , Humanos , Masculino , Pessoa de Meia-Idade , Sobrepeso/cirurgia , Indução de Remissão
3.
Endocrinol Diabetes Nutr (Engl Ed) ; 66(3): 140-149, 2019 Mar.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-30337188

RESUMO

The prevalence of obesity has increased worldwide over the past decades. Obesity is associated with multiple comorbidities, such as type 2 diabetes, that generates a great impact on health and economy. Weight loss in these patients leads to glycemic control so it is a target to achieve. Lifestyle changes are not effective enough and recently other treatments have been developed such as bariatric/metabolic surgery, as well as drugs for type 2 diabetes and antiobesity drugs. The aim of this review is to compare the results in weight reduction and glycemic control of the different kinds of drugs with bariatric / metabolic surgery's results in type 2 diabetes.


Assuntos
Diabetes Mellitus Tipo 2/terapia , Obesidade/terapia , Fármacos Antiobesidade/uso terapêutico , Cirurgia Bariátrica , Ensaios Clínicos como Assunto , Terapia Combinada , Comorbidade , Diabetes Mellitus Tipo 2/dietoterapia , Diabetes Mellitus Tipo 2/tratamento farmacológico , Diabetes Mellitus Tipo 2/epidemiologia , Dieta para Diabéticos , Dieta Redutora , Quimioterapia Combinada , Previsões , Humanos , Hipoglicemiantes/classificação , Hipoglicemiantes/farmacologia , Hipoglicemiantes/uso terapêutico , Estudos Multicêntricos como Assunto , Obesidade/dietoterapia , Obesidade/epidemiologia , Obesidade/cirurgia , Redução de Peso
4.
BMC Endocr Disord ; 18(1): 90, 2018 Nov 28.
Artigo em Inglês | MEDLINE | ID: mdl-30486823

RESUMO

BACKGROUND: Bariatric surgery is effective in remission of obesity comorbidities. This study was aimed at comparing CVD risk between morbidly obese patients with type 2 diabetes and pre-diabetes before and after bariatric surgery as well as assessing comorbidities. METHODS: This is a retrospective observational study with 105 patients with type 2 diabetes (DMbaseline) and prediabetes (preDMbaseline) who underwent Roux-en-Y gastric bypass. Data were collected preoperative and then at 3,6,12,18,24,36,48, and 60 months after surgery. Anthropometric, cardiovascular and glycemic parameters were assessed. CVD risk was calculated using the Framingham Risk Score. RESULTS: Prior to surgery, 48 patients had type 2 diabetes, while 57 had pre-diabetes. Mean age was 48 (9.2) and mean BMI was 52 (7.4). 26.1% of patients had a high CVD risk. CVD risk decreased in patients with type 2 diabetes and prediabetes at month 12 after surgery compared to the baseline risk (p < 0.001). BMI, body fat percentage, fasting plasma glucose, HbA1c, c-peptide, HOMA-IR, LDL-c, systolic blood pressure, and diastolic blood pressure decreased during the first year after surgery. From the 12th month until the 60th, they showed a flat trend, or a very mild increase in some cases. 3.2% of patients maintained high CVD risk at 60 months. Type 2 diabetes remission was 92%. No patient of the preDMbaseline group developed type 2 diabetes. CONCLUSION: Bariatric surgery reduces CVD risk in type 2 diabetes and pre-diabetes. Given that patients with type 2 diabetes benefit the most, more studies are necessary to consider pre-diabetes as a criterion for metabolic surgery in patients with BMI ≥ 35 kg/m2.


Assuntos
Cirurgia Bariátrica/tendências , Doenças Cardiovasculares/prevenção & controle , Diabetes Mellitus Tipo 2/cirurgia , Obesidade Mórbida/cirurgia , Estado Pré-Diabético/cirurgia , Comportamento de Redução do Risco , Adulto , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/diagnóstico , Análise de Dados , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/diagnóstico , Feminino , Seguimentos , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Obesidade Mórbida/sangue , Obesidade Mórbida/diagnóstico , Estado Pré-Diabético/sangue , Estado Pré-Diabético/diagnóstico , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo
5.
Urol Int ; 98(1): 28-31, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-27379569

RESUMO

OBJECTIVE: To evaluate the association between body fat mass distribution measured by bioelectrical impedanciometry (BEI) and high-grade prostate cancer (HGPC). METHODS: We prospectively analyze 323 patients who underwent prostate biopsy. BEI was performed prior to biopsy. Prostate cancer (PC) was stratified according to D'Amico classification. For univariate analysis, Student t test was done. For multivariate analysis, bivariate logistic regression was performed using PSA, body mass index (BMI), percentage central body fat, percentage total body fat, and visceral fat as explicative variables for the diagnosis of HGPC. RESULTS: PC was found in 134 patients. Thirty seven (27.2%) were HGPC. This group had higher age, PSA, and percentage central body fat (p = 0.001, p = 0.001, p = 0.04). BMI showed no association with HRPC. Age, PSA, and percentage central body fat (OR 1,123, 95% CI 1,022-1,233, p = 0.001) were independent risk factors. CONCLUSIONS: Central body fat measured by BEI could explain the association between obesity and HGPC better than BMI suggesting the use of this technique to study body fat distribution.


Assuntos
Distribuição da Gordura Corporal , Índice de Massa Corporal , Impedância Elétrica , Neoplasias da Próstata/epidemiologia , Neoplasias da Próstata/patologia , Idoso , Biópsia , Humanos , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Estudos Prospectivos , Fatores de Risco
9.
Neurocir. - Soc. Luso-Esp. Neurocir ; 26(1): 48-51, ene.-feb. 2015. ilus, tab
Artigo em Inglês | IBECS | ID: ibc-133399

RESUMO

Los macroprolactinomas pueden ser invasivos e infiltrar la base del cráneo causando el posterior adelgazamiento que puede conducir a un defecto del hueso y una vía de entrada para patógenos. Describimos un varón de 34 años que ingresó en el hospital con cefalea, rigidez de nuca, diplopia y deterioro neurológico. Las imágenes de resonancia magnética nuclear mostraron dos abscesos bilaterales frontoparietales con trombosis venosa del seno y un adenoma hipofisario que se extendía desde la región supraselar, erosionando el suelo de la silla hacia el seno esfenoidal. El análisis hormonal mostró aumento del nivel de prolactina y descenso de los niveles de FSH, LH y testosterona. El paciente recibió tratamiento antibiótico y fue intervenido quirúrgicamente. El paciente desarrolló sordera central como déficit neurológico. Es recomendable incluir el adenoma hipofisario en el diagnóstico diferencial de la meningitis aunque su debut como abscesos intracraneales y trombosis del seno recto es extraordinario


Macroprolactinomas may behave invasively and infiltrate the skull base, causing a subsequent thinning that can also lead to a bone defect and a direct route of entry for pathogens. We describe the case of a 34-year-old male admitted to hospital with fever (38 ◦C), headache, stiffness in the neck, diplopia and neurological impairment. Brain magnetic resonance imaging showed two bilateral abscesses in the fronto-parietal areas with intracranial venous sinus thrombosis and a pituitary adenoma that extended from the suprasellar region, eroding the sellar floor into the sphenoid sinus. Laboratory hormone measurements showed increased levels of prolactin and low levels of FSH, LH and testosterone. The patient received antibiotic treatment and surgery was performed. The patient developed central deafness as a neurological deficit. It is advisable to include pituitary adenoma in the differential diagnosis of meningitis even though its onset as intracranial abscess and rectus sinus thrombosis is extremely rare


Assuntos
Humanos , Masculino , Adulto , Abscesso Encefálico/etiologia , Prolactinoma/complicações , Meningite/complicações , Procedimentos Neurocirúrgicos/métodos , Trombose dos Seios Intracranianos/complicações
11.
Neurocirugia (Astur) ; 26(1): 48-51, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25487178

RESUMO

Macroprolactinomas may behave invasively and infiltrate the skull base, causing a subsequent thinning that can also lead to a bone defect and a direct route of entry for pathogens. We describe the case of a 34-year-old male admitted to hospital with fever (38°C), headache, stiffness in the neck, diplopia and neurological impairment. Brain magnetic resonance imaging showed two bilateral abscesses in the fronto-parietal areas with intracranial venous sinus thrombosis and a pituitary adenoma that extended from the suprasellar region, eroding the sellar floor into the sphenoid sinus. Laboratory hormone measurements showed increased levels of prolactin and low levels of FSH, LH and testosterone. The patient received antibiotic treatment and surgery was performed. The patient developed central deafness as a neurological deficit. It is advisable to include pituitary adenoma in the differential diagnosis of meningitis even though its onset as intracranial abscess and rectus sinus thrombosis is extremely rare.


Assuntos
Abscesso Encefálico/diagnóstico , Abscesso Encefálico/etiologia , Neoplasias Hipofisárias/complicações , Prolactinoma/complicações , Adulto , Humanos , Masculino
13.
Neurocir. - Soc. Luso-Esp. Neurocir ; 25(4): 170-178, jul.-ago. 2014. ilus, tab
Artigo em Inglês | IBECS | ID: ibc-128147

RESUMO

INTRODUCTION AND OBJECTIVE: The endoscopic techniques used in pituitary surgery have evolved greatly in recent years. Our objective in this study was to conduct a review of the systematic reviews published in the English language literature, to examine their consistency and conclusions reached following studies comparing microsurgery and endoscopic surgery in hypophyseal surgery. MATERIALS AND METHODS: We carried out a bibliographic search on MEDLINE and EMBASE electronic databases, selecting those systematic reviews and meta-analyses published from the year 2000 until January 2013, focusing on comparisons between microsurgical and endoscopic techniques. RESULTS: We concluded with type A consistency that hospital stay was shorter and diabetes insipidus and rhinological complications were less frequent in the endoscopy group. We concluded with type B consistency that lower rates of patient blood loss, shorter operative times, higher rate of gross total resection, lesser association to visual impairment and lower rate of hypopituitarism were observed in the endoscopy group. Vascular complications and cerebrospinal fluid fistulas were reduced with microsurgery. It is crucial to perform a combined analysis of all the systematic reviews treating a specific topic, observing and analysing the trends and how these are affected by new contributions. CONCLUSION: Randomized multicenter studies are necessary to resolve the controversy over endoscopic and microsurgical approaches in hypophyseal pathology


INTRODUCCIÓN Y OBJETIVO: Las técnicas endoscópicas aplicadas a la cirugía hipofisaria han experimentado un importante desarrollo en los últimos años. Nuestro objetivo es realizar un examen de las diferentes revisiones sistemáticas publicadas en la literatura inglesa, para determinar la consistencia y las conclusiones alcanzadas tras la comparativa entre abordajes endoscópicos y microscópicos en la cirugía hipofisaria. MATERIAL Y MÉTODOS: Se ha realizado una revisión de la literatura inglesa utilizando las bases de datos MEDLINE y EMBASE, seleccionando las revisiones sistemáticas y metaanálisis publicados desde el año 2000 al 2013, focalizándonos en la comparativa entre los abordajes endoscópicos y microscópicos para el tratamiento de patología hipofisaria. RESULTADOS: Concluimos con consistencia tipo A que la estancia hospitalaria fue más corta, así como la diabetes insípida y las complicaciones rinológicas fueron menos frecuentes en el grupo endoscópico. Encontramos consistencia tipo B a favor de que la pérdida hemática es menor, el tiempo quirúrgico es más corto, la tasa de resección completa es mayor, el deterioro visual es menos frecuente y la tasa de hipopituitarismo es menor en el grupo endoscópico. Las complicaciones vasculares y la fístula de LCR fueron menos frecuentes en el grupo microscópico con consistencia tipo B. Resulta fundamental realizar un análisis combinado de todas las revisiones sistemáticas que tratan un tema específico, observando y analizando las tendencias y cómo estas se pueden ver afectadas por las nuevas contribuciones. CONCLUSIONES: Estudios aleatorizados multicéntricos son necesarios para resolver la controversia entre el tratamiento endoscópico y microscópico de la patología hipofisaria


Assuntos
Humanos , Neoplasias Hipofisárias/cirurgia , Microscopia/métodos , Endoscopia/métodos , Cirurgia Endoscópica por Orifício Natural/métodos , Procedimentos Cirúrgicos Minimamente Invasivos , Complicações Pós-Operatórias , Tempo de Internação/estatística & dados numéricos
15.
Neurocirugia (Astur) ; 25(4): 170-8, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24747035

RESUMO

INTRODUCTION AND OBJECTIVE: The endoscopic techniques used in pituitary surgery have evolved greatly in recent years. Our objective in this study was to conduct a review of the systematic reviews published in the English language literature, to examine their consistency and conclusions reached following studies comparing microsurgery and endoscopic surgery in hypophyseal surgery. MATERIALS AND METHODS: We carried out a bibliographic search on MEDLINE and EMBASE electronic databases, selecting those systematic reviews and meta-analyses published from the year 2000 until January 2013, focusing on comparisons between microsurgical and endoscopic techniques. RESULTS: We concluded with type A consistency that hospital stay was shorter and diabetes insipidus and rhinological complications were less frequent in the endoscopy group. We concluded with type B consistency that lower rates of patient blood loss, shorter operative times, higher rate of gross total resection, lesser association to visual impairment and lower rate of hypopituitarism were observed in the endoscopy group. Vascular complications and cerebrospinal fluid fistulas were reduced with microsurgery. It is crucial to perform a combined analysis of all the systematic reviews treating a specific topic, observing and analysing the trends and how these are affected by new contributions. CONCLUSION: Randomized multicenter studies are necessary to resolve the controversy over endoscopic and microsurgical approaches in hypophyseal pathology.


Assuntos
Endoscopia , Microcirurgia , Hipófise/cirurgia , Humanos
16.
Endocrinol Nutr ; 61(3): 160-70, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24035732

RESUMO

Non-functioning pituitary adenomas are the most common pituitary macroadenomas in adults, accounting for approximately 14%-28% of all clinically relevant pituitary tumors. They are a heterogeneous group of tumors that cause symptoms by compression and/or hormone deficiencies. The possibility of tumor growth is increased in macroadenomas and solid tumors as compared to microadenomas and cystic tumors. Diagnosis is based on imaging procedures (magnetic resonance imaging), but there are studies reporting promising potential biomarkers. Transsphenoidal surgery remains the first therapeutic option for large tumors with compressive symptoms. There is no evidence that endoscopic procedures improve outcomes, but they decrease morbidity. There is no unanimity in finding prognostic predictors of recurrence. Radiosurgery achieves tumor control and, sometimes, adenoma size reduction. Its adverse effects increase with higher doses and tumor sizes>4cm(3). Drug treatment is of little value. In aggressive non-functioning tumors, temozolomide (TMZ) may be used with caution because no controlled studies are available. TMZ achieves tumor control in 38%-40% of aggressive non-functioning tumors. The optimal treatment regimen and duration have not been defined yet. Lack of response to TMZ after 3 cycles predicts for treatment resistance, but initial response does not ensure optimal mid or long-term results. O6-methylguanine-DNA methyltransferase expression has a limited predictive value of response to treatment with TMZ in aggressive non-functioning tumors. It should therefore not be a determinant factor in selection of patients to be treated with TMZ.


Assuntos
Neoplasias Hipofisárias , Árvores de Decisões , Humanos , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/terapia
17.
Endocrinol. nutr. (Ed. impr.) ; 60(6): 308-319, jun.-jul. 2013. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-114610

RESUMO

Objetivo Proporcionar recomendaciones prácticas y actualizadas para la evaluación, diagnóstico diferencial y tratamiento del prolactinoma y la hiperprolactinemia en diversos contextos clínicos. Participantes Miembros del Grupo de Neuroendocrinología de la Sociedad Española de Endocrinología y Nutrición. Métodos Las recomendaciones se formularon de acuerdo al sistema Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) para establecer tanto la fuerza de las recomendaciones como el grado de evidencia. Se realizó una búsqueda sistemática en Medline (Pubmed) para cada apartado, y se añadieron consideraciones de los autores en los aspectos en los que la bibliografía ofrece escasa evidencia. Tras la formulación de las recomendaciones estas se discutieron de forma conjunta en el Grupo de Trabajo. Conclusiones El documento establece unas recomendaciones prácticas y actualizadas del diagnóstico y tratamiento de la hiperprolactinemia y el prolactinoma incluyendo la hiperprolactinemia inducida por fármacos, diversas modalidades del tratamiento de los prolactinomas (fármacos, cirugía y radioterapia), prolactinoma y gestación, efectos adversos de los fármacos dopaminérgicos, y prolactinomas resistentes a fármacos y malignos (AU)


Objective To provide practical and up to date recommendations for evaluation, differential diagnosis, and treatment of prolactinoma and hyperprolactinemia in various clinical settings. Participants Members of the Neuroendocrinology Working Group of the Spanish Society of Endocrinology. Methods Recommendations were formulated according to the Grading of Recommendations, Assessment, Development, and Evaluation system (GRADE) to describe both the strength of recommendations and the quality of evidence. A systematic search was made in Medline (Pubmed) for each subject, and authors’ considerations were added in areas where the literature provided scarce evidence. Finally, recommendations were jointly discussed by the Working Group. Conclusions The document provides evidence-based practical and updated recommendations for diagnosis and management of hyperprolactinemia and prolactinoma, including drug-induced hyperprolactinemia, treatment options for prolactinoma (drugs, surgery, and radiotherapy), prolactinoma in pregnancy, adverse effects of dopaminergic agents, and drug-resistant and malignant prolactinomas (AU)


Assuntos
Humanos , Prolactinoma/diagnóstico , Prolactinoma/terapia , Hiperprolactinemia/etiologia , Neoplasias Hipofisárias/complicações , Padrões de Prática Médica
18.
Endocrinol Nutr ; 60(6): 308-19, 2013.
Artigo em Espanhol | MEDLINE | ID: mdl-23477758

RESUMO

OBJECTIVE: To provide practical and up to date recommendations for evaluation, differential diagnosis, and treatment of prolactinoma and hyperprolactinemia in various clinical settings. PARTICIPANTS: Members of the Neuroendocrinology Working Group of the Spanish Society of Endocrinology. METHODS: Recommendations were formulated according to the Grading of Recommendations, Assessment, Development, and Evaluation system (GRADE) to describe both the strength of recommendations and the quality of evidence. A systematic search was made in Medline (Pubmed) for each subject, and authors' considerations were added in areas where the literature provided scarce evidence. Finally, recommendations were jointly discussed by the Working Group. CONCLUSIONS: The document provides evidence-based practical and updated recommendations for diagnosis and management of hyperprolactinemia and prolactinoma, including drug-induced hyperprolactinemia, treatment options for prolactinoma (drugs, surgery, and radiotherapy), prolactinoma in pregnancy, adverse effects of dopaminergic agents, and drug-resistant and malignant prolactinomas.


Assuntos
Hiperprolactinemia/diagnóstico , Hiperprolactinemia/terapia , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/terapia , Prolactinoma/diagnóstico , Prolactinoma/terapia , Algoritmos , Humanos
19.
Endocrinol Nutr ; 56(7): 369-77, 2009.
Artigo em Espanhol | MEDLINE | ID: mdl-19883897

RESUMO

Clinically relevant pituitary adenomas occur 3-5 times more frequently than previously thought. The majority are isolated cases, but their presentation can be familial in the setting of known syndromes such as multiple endocrine neoplasia (MEN)-1 and Carney complex. When 2 or more cases of pituitary adenomas occur in the same family in the absence of the above-mentioned syndromes, a diagnosis of FIPA (familial isolated pituitary adenomas) is made, which accounts for 1-2% of all pituitary adenomas. Mutations of the gene AIP (aryl hydrocarbon receptor-interacting protein) may account for 15% of FIPA families (50% of familial acromegaly), and as such the genetic causes continue to be studied. Also mutations in AIP can be detected in sporadic adenomas among young populations (< 30 years of age). We describe the characteristics of FIPA, detailing the study of a spanish family, in this case AIP mutation negative. Also, the reported findings in sporadic adenomas in the young population are detailed, accompanied by the description of a 19- year old patient with an intronic AIP mutation. Multicenter studies have provided understanding of aspects such as mutations in AIP; however, further studies are necessary to identify other genes involved in FIPA and sporadic pituitary adenomas occurring at a young age.


Assuntos
Adenoma/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Mutação , Neoplasias Hipofisárias/genética , Feminino , Humanos , Pessoa de Meia-Idade , Linhagem , Fenótipo , Adulto Jovem
20.
Endocrinol. nutr. (Ed. impr.) ; 56(7): 369-377, ago.-sept. 2009. ilus
Artigo em Espanhol | IBECS | ID: ibc-76923

RESUMO

Los adenomas hipofisarios clínicamente relevantes son 3-5 veces más frecuentes de lo que inicialmente se pensaba. La mayoría son casos esporádicos, pero su presentación puede ser familiar dentro de síndromes conocidos: neoplasia endocrina múltiple (MEN) 1 y complejo de Carney. Cuando se expresan dos o más casos en la misma familia en ausencia de los síndromes anteriores, hablamos de adenomas hipofisarios familiares aislados (familial isolated pituitary adenomas [FIPA]), que suponen un 1-2% de todos los adenomas hipofisarios. Las mutaciones del gen AIP (aryl hydrocarbon receptor-interacting protein) pueden justificar el 15% de las familias con FIPA (el 50% de acromegalia familiar), pero su base genética continúa en estudio. Además, estas mutaciones de AIP se detectan en adenomas aislados en población joven (< 30 años). Se describen las características descritas en los FIPA detallando el estudio de una familia española, en este caso AIP negativa. También se detallan los hallazgos descritos en adenomas esporádicos en población joven con la presentación de una paciente de 19 años acromegálica con mutación de AIP intrónica. Los estudios multicéntricos han permitido conocer aspectos como las mutaciones de AIP, pero continúan siendo necesarios para conocer otros genes involucrados en los FIPA y los adenomas esporádicos que se presentan en edades tempranas (AU)


Clinically relevant pituitary adenomas occur 3-5 times more frequently than previously thought. The majority are isolated cases, but their presentation can be familial in the setting of known syndromes such as multiple endocrine neoplasia (MEN)-1 and Carney complex. When 2 or more cases of pituitary adenomas occur in the same family in the absence of the above-mentioned syndromes, a diagnosis of FIPA (familial isolated pituitary adenomas) is made, which accounts for 1-2% of all pituitary adenomas. Mutations of the gene AIP (aryl hydrocarbon receptor-interacting protein) may account for 15% of FIPA families (50% of familial acromegaly), and as such the genetic causes continue to be studied. Also mutations in AIP can be detected in sporadic adenomas among young populations (< 30 years of age). We describe the characteristics of FIPA, detailing the study of a spanish family, in this case AIP mutation negative. Also, the reported findings in sporadic adenomas in the young population are detailed, accompanied by the description of a 19-year old patient with an intronic AIP mutation. Multicenter studies have provided understanding of aspects such as mutations in AIP; however, further studies are necessary to identify other genes involved in FIPA and sporadic pituitary adenomas occurring at a young age (AU)


Assuntos
Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Mutação , Adenoma/genética , /genética , Neoplasias Hipofisárias , Linhagem , Fenótipo
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