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1.
Actual. osteol ; 17(1): 45-56, 2021. ilus, graf, tab
Article in Spanish | LILACS, BINACIS, UNISALUD | ID: biblio-1292122

ABSTRACT

El hiperparatiroidismo primario (HPTP) es poco frecuente en niños y adolescentes. Hay escasos datos para el manejo de estos pacientes en pediatría. Las glándulas paratiroideas son glándulas endocrinas que secretan hormona paratiroidea (PTH) y regulan el metabolismo del calcio y del fósforo. La sobreexpresión de PTH se llama hiperparatiroidismo, que se clasifica en primario, secundario y terciario. En los adolescentes, 80 a 92% de los hiperparatiroidismos primarios se deben a adenoma paratiroideo. Presentamos el caso clínico de una adolescente con una primera manifestación atípica de HPTP, la presencia de un tumor pardo del paladar, presentación rara de adenoma paratiroideo, acompañado de hipercalcemia, marcada elevación de PTH y varias lesiones óseas. (AU)


Primary hyperparathyroidism (PHPT) in children and adolescents is uncommon. Guidelines for management in pediatric patients are limited. Parathyroid glands are endocrine glands that secrete parathyroid hormone (PTH) and regulate calciumphosphate metabolism. The overexpression of PTH is called hyperparathyroidism, and is classified as primary, secondary, and tertiary. In adolescents, 80 to 92% of PHPT cases are due to a parathyroid adenoma. We present here a case report of an adolescent with a brown tumor of the palate as the first manifestation of the disease, atypical and rare presentation of parathyroid adenoma in an adolescent. She had hypercalcemia, marked elevation of PTH and bone lesions. (AU)


Subject(s)
Humans , Female , Child , Parathyroid Neoplasms/diagnosis , Palatal Neoplasms/etiology , Adenoma/diagnosis , Hyperparathyroidism, Primary/complications , Parathyroid Neoplasms/surgery , Palatal Neoplasms/diagnostic imaging , Adenoma/surgery , Hyperparathyroidism, Primary/etiology
2.
Rev. bras. ginecol. obstet ; 42(12): 841-844, Dec. 2020.
Article in English | LILACS | ID: biblio-1156070

ABSTRACT

Abstract Primary hyperparathyroidism is an endocrine disorder characterized by hypercalcemia and elevated or inappropriately normal levels of parathyroid hormone. The diagnosis is based on a biochemical evaluation, and a neck ultrasound is the first choice during pregnancy to access the parathyroid glands. Manifestations during pregnancy are rare and can be present with life-threatening complications, so the diagnosis is challenging. The conservative treatment is limited, and there is not enough data about its safety and efficacy during pregnancy. Surgery is the only curative treatment, and a parathyroidectomy performed during the second or third trimesters is considered safe. Recently, some authors suggested an association between primary hyperparathyroidism and preeclampsia. We describe a case of preeclampsia with severe features at 27 weeks of gestational age. The severity of the preeclampsiamotivated an early termination of the pregnancy by cesarean section. During the postpartum period, the patient presented life-threatening complications, such as severe hypercalcemia and acute pancreatitis. An ultrasound exam found two parathyroid nodules, suggestive of parathyroid adenomas. The patient recovered after the pharmacological correction of the calcemia levels.


Resumo O hiperparatiroidismo primário é umdistúrbio endócrino caraterizado pela elevação do cálcio sérico associada a níveis de paratormona elevados ou inapropriadamente normais. O diagnóstico é baseado em análises bioquímicas, e, na gravidez, o exame de imagem de primeira linha é a ecografia cervical. É uma doença rara na gravidez, e pode se apresentar com complicações ameaçadoras de vida, pelo que o seu diagnóstico é desafiante. O tratamento médico disponível é limitado, havendo poucos dados relativos à sua eficácia e segurança na gravidez. A cirurgia é o único tratamento curativo, e pode ser realizada no segundo ou terceiro trimestres. Tem sido descrita uma relação entre hiperparatiroidismo primário e pré-eclâmpsia. Apresenta-se um caso de uma grávida de 27 semanas com pré-eclâmpsia com critérios de gravidade, o que obrigou ao término da gravidez por cesariana. Verificou-se agravamento clínico no período pós-parto, com aparecimento de complicações graves, tais como hipercalcemia grave e pancreatite aguda. Ecograficamente, constataram-se duas massas paratiróideias sugestivas de adenomas da paratiroide. A doente recebeu tratamento médico, e teve melhora apenas após a correção dos níveis de cálcio sérico.


Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Adult , Pancreatitis/diagnosis , Parathyroid Neoplasms/diagnosis , Pre-Eclampsia/diagnosis , Prenatal Diagnosis , Adenoma/diagnosis , Hyperparathyroidism, Primary/diagnosis , Pancreatitis/complications , Parathyroid Neoplasms/complications , Pregnancy Complications, Neoplastic/diagnosis , Pregnancy Trimester, Third , Adenoma/complications , Diagnosis, Differential , Hyperparathyroidism, Primary/complications
3.
Rev. bras. oftalmol ; 79(6): 409-412, nov.-dez. 2020. graf
Article in Portuguese | LILACS | ID: biblio-1156156

ABSTRACT

Resumo Os tumores de hipófise representam aproximadamente 15% de todos os tumores cerebrais e dependendo do tamanho, pressionam o quiasma óptico, resultando em comprometimento da função visual que se manifesta como defeitos no campo visual, diminuição da acuidade visual e da visão das cores. O objetivo do presente estudo foi relatar um caso de macroadenoma de hipófise com compressão do quiasma óptico e defeito no campo visual, tratado inicialmente como glaucoma, levando a um diagnóstico e tratamento tardio.


Abstract Pituitary tumors represent approximately 15% of all brain tumors and depending on size, pressure optic chiasma, resulting in impaired visual func-tion that manifests itself as defective in the visual field, decreased acuity visual and color vision. The ob-jetive of the present study was to report a case of pitui-tary macroadenoma with compression of optical chiasma and visual field de-fect, initially treated as glaucoma, leading to a late diagnosis and treatment.


Subject(s)
Humans , Male , Adult , Optic Chiasm/physiopathology , Pituitary Neoplasms/diagnosis , Visual Acuity , Visual Fields , Adenoma/diagnosis , Color Vision
4.
Arq. gastroenterol ; 57(4): 466-470, Oct.-Dec. 2020. tab, graf
Article in English | LILACS | ID: biblio-1142346

ABSTRACT

ABSTRACT BACKGROUND: The effectiveness of colonoscopy for colorectal cancer (CRC) screening depends on quality indicators, which adenoma detection rate (ADR) being the most important. Proximal serrated polyp detection rate (pSPDR) has been studied as a potential quality indicator for colonoscopy. OBJECTIVE: The aim is to analyze and compare the difference in ADR and pSPDR between patients undergoing screening colonoscopy and an unselected population with other indications for colonoscopy, including surveillance and diagnosis. METHODS: This is a historical cohort of patients who underwent colonoscopy in the digestive endoscopy service of a tertiary hospital. Out of 1554 colonoscopies performed, 573 patients were excluded. The remaining 981 patients were divided into two groups: patients undergoing screening colonoscopy (n=428; 43.6%); patients with other indications including surveillance and diagnosis (n=553; 56.4%). RESULTS: Adenoma detection rate of the group with other indications (50.6%) was higher than that of the screening group (44.6%; P=0.03). In regarding pSPDR, there was no difference between pSPDR in both groups (screening 13.6%; other indications 13.7%; P=0.931). There was no significant difference in the mean age (P=0.259) or in the proportion of men and women (P=0.211) between both groups. CONCLUSION: Proximal serrated polyp detection rate showed an insignificant difference between groups with different indications and could be used as a complementary indicator to adenoma detection rate. This could benefit colonoscopists with low colonoscopy volume or low volume of screening colonoscopies.


RESUMO CONTEXTO: A efetividade da colonoscopia no rastreamento do câncer colorretal (CCR) depende de indicadores de qualidade, sendo a taxa de detecção de adenoma (TDA) a mais importante. A taxa de detecção de pólipos serrilhados proximais (TDPSp) tem sido estudada como um potencial indicador de qualidade para a colonoscopia. OBJETIVO: O objetivo é analisar e comparar a diferença de TDA e TDPSp entre pacientes submetidos à colonoscopia de rastreamento e uma população não selecionada com outras indicações para colonoscopia, incluindo vigilância e diagnóstico. MÉTODOS: Esta é uma coorte histórica de pacientes submetidos à colonoscopia no serviço de endoscopia digestiva de um hospital terciário. Das 1554 colonoscopias realizadas, 573 pacientes foram excluídos. Os 981 pacientes restantes foram divididos em dois grupos: pacientes submetidos à colonoscopia de rastreamento (n=428; 43,6%); pacientes com outras indicações, incluindo vigilância e diagnóstico (n=553; 56,4%). RESULTADOS: A taxa de detecção de adenoma do grupo com outras indicações (50,6%) foi superior à do grupo de rastreamento (44,6%; P=0,03). Em relação ao TDPSp, não houve diferença entre os dois grupos (triagem 13,6%; outras indicações 13,7%; P=0,931). Não houve diferença significativa na idade média (P=0,259) ou na proporção de homens e mulheres (P=0,211) entre os grupos. CONCLUSÃO: A taxa de detecção proximal de pólipos serrilhados mostrou uma diferença insignificante entre os grupos com diferentes indicações para colonoscopia e poderia ser utilizada como um indicador complementar a TDA. Isso beneficiaria colonoscopistas com baixo volume de colonoscopias ou baixo volume de colonoscopias de rastreamento.


Subject(s)
Humans , Male , Female , Colorectal Neoplasms/diagnosis , Adenoma/diagnosis , Colonic Polyps/diagnosis , Retrospective Studies , Colonoscopy , Quality Indicators, Health Care , Early Detection of Cancer
5.
Arch. endocrinol. metab. (Online) ; 64(2): 185-189, Mar.-Apr. 2020. tab, graf
Article in English | LILACS | ID: biblio-1131063

ABSTRACT

SUMMARY The EIF1AX gene mutations have been recently associated with papillary thyroid carcinoma and anaplastic thyroid cancer. According with these reports, the gene as been considered as a drive gene for thyroid cancer development. However, the occurrence of these alterations in benign thyroid lesions is not known and is still under investigation. Some authors have already reported the presence of EIF1AX variants in follicular adenomas and hyperplastic nodules. Here, we describe for the first time a case of a man with the EIF1AX c.338-2A>T splice site mutation in an indeterminate FNA lesion with trabecular adenoma at final histology in the absence of other pathogenetic mutations, demonstrating that further studies are required to better understand EIF1AX role in the tumorigenesis of thyroid carcinoma.


Subject(s)
Humans , Male , Thyroid Neoplasms/diagnosis , Thyroid Neoplasms/genetics , Adenoma/diagnosis , Adenoma/genetics , Eukaryotic Initiation Factor-1/genetics , Mutation/genetics , Biopsy, Fine-Needle , Middle Aged
6.
Medicina (B.Aires) ; 80(2): 181-184, abr. 2020. ilus
Article in Spanish | LILACS | ID: biblio-1125063

ABSTRACT

La mayoría de los adenomas hipofisarios son esporádicos, pero un 3-5% puede ocurrir en un contexto familiar y hereditario. Este es el caso de la neoplasia endocrina múltiple de tipo 1 (NEM1), complejo de Carney (CNC) y adenomas hipofisarios aislados familiares (FIPA). El FIPA es una condición infrecuente, que ocurre en un contexto familiar, no asociada a NEM t ipo1 ni CNC. Los FIPA pueden ser homogéneos (todos los adenomas tienen el mismo fenotipo) o heterogéneos (diferente fenotipo tumoral). Describimos una familia congolesa en la que dos hermanas y una prima fueron diagnosticadas a los 29, 32 y 40 años, respectivamente, con un prolactinoma (FIPA homogéneo). Las pacientes presentaron macroadenomas no invasivos al momento del diagnóstico, con buena respuesta biológica y tumoral al tratamiento con cabergolina hasta una dosis máxima de 1.5 mg/semanal. De las dos hermanas, una cursó un embarazo sin complicaciones. Durante el seguimiento de 12 años, ninguna de ellas presentó elementos clínicos o biológicos compatibles con NEM1 o CNC, por lo que dichos genes no se estudiaron. El análisis genético en dos de las pacientes permitió descartar la posibilidad de una mutación germinal del gen aryl hydrocarbon receptor interacting protein (AIP). Se considera que el 80% de los pacientes con FIPA no presentan mutación del gen AIP, por lo que se requieren futuros estudios en este tipo de familias, para poder determinar otros genes afectados involucrados en su fisiopatología.


Most pituitary adenomas are sporadic, but 3-5% can occur in a family and hereditary context. This is the case of multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC) and familial isolated pituitary adenomas (FIPA). FIPA is an infrequent condition that occurs in a family context, not associated with MEN type1 or CNC. FIPA kindred can be homogeneous (all adenomas affected in the family having the same tumor phenotype) or heterogeneous (different tumor phenotypes in the affected members). We describe a Congolese family in which two sisters and a cousin were diagnosed with a prolactinoma (homogenous FIPA) at the ages of 29, 32 and 40 years, respectively. The patients presented with macroadenomas at the time of diagnosis, non-invasive tumors and good biological response to cabergoline treatment (maximum dose of 1.5 mg/weekly). Of these two sisters, one went through a pregnancy without complications. Because no MEN1 and CNC clinical and biochemical features were detected during the 12-year follow-up, these genes were not investigated. The genetic analysis of the aryl hydrocarbon receptor interacting protein (AIP) was normal. As nearly 80% of patients with FIPA do not have a mutation in the AIP gene, future studies in these families are required to identify other affected genes involved in their physiopathology.


Subject(s)
Humans , Female , Adult , Pituitary Neoplasms/genetics , Adenoma/genetics , Growth Hormone-Secreting Pituitary Adenoma , Pituitary Neoplasms/diagnosis , Neoplastic Syndromes, Hereditary/diagnosis , Neoplastic Syndromes, Hereditary/genetics , Magnetic Resonance Spectroscopy , Adenoma/diagnosis , Multiple Endocrine Neoplasia Type 1/genetics , Mutation
7.
Rev. chil. endocrinol. diabetes ; 13(4): 150-153, 2020. ilus
Article in Spanish | LILACS | ID: biblio-1123620

ABSTRACT

Los adenomas hipofisarios ectópicos (EPA) constituyen un reto diagnóstico, dada su escasa prevalencia y variada presentación en la que puede incluirse un síndrome de hipersecreción de hormonas hipofisarias. La clínica suele ser larvada e inespecífica, no presentan ninguna característica radiológica diferencial y el diagnóstico habitualmente es anatomopatológico. Sin embargo, a pesar de ser tumores benignos, pueden presentar un comportamiento agresivo, con invasión ósea y difícil resección completa, por lo que un diagnóstico de sospecha precoz podría resultar en un tratamiento más eficaz y con un menor número de complicaciones. Presentamos el caso de una paciente con un adenoma hipofisario ectópico silente en el seno esfenoidal con inmunohistoquímica positiva para Hormona de crecimiento (GH) y prolactina que presentaba restos tumorales tras la intervención quirúrgica y ha sido manejada con tratamiento médico conservado, con buenos resultados.


Ectopic pituitary adenomas constitute a diagnostic challenge, given their low prevalence and varied presentation in which a pituitary hormone hypersecretion syndrome may be included. Clinical symptoms are usually latent and nonspecific, they have no differential radiological characteristics and the diagnosis is usually anatomopathological. However, despite being benign tumors, they can exhibit aggressive behavior, with bone invasion and difficult complete resection, so a diagnosis of early suspicion could result in more effective treatment and fewer complications. We present the case of a patient with a silent ectopic pituitary adenoma in the sphenoid sinus with positive immunohistochemistry for Growth Hormone (GH) and prolactin who had tumor remnants after surgery and was managed with conservative medical treatment, with good results.


Subject(s)
Humans , Female , Aged , Pituitary Neoplasms/diagnosis , Pituitary Neoplasms/drug therapy , Sphenoid Sinus , Adenoma/diagnosis , Adenoma/drug therapy , Postoperative Period , Prolactin/metabolism , Growth Hormone/metabolism , Immunohistochemistry , Magnetic Resonance Imaging , Radionuclide Imaging , Tomography, X-Ray Computed , Dopamine Agonists/therapeutic use , Cabergoline/therapeutic use
8.
Medicina (B.Aires) ; 79(5): 419-423, oct. 2019. graf, tab
Article in Spanish | LILACS | ID: biblio-1056744

ABSTRACT

Se presenta el caso de una paciente que, durante los estudios por búsqueda de fertilidad y posterior embarazo, mostraba un perfil tiroideo alterado con niveles elevados de T4 libre y TSH normal. Luego de descartar un adenoma tirotropo y ante la ausencia de sintomatología clínica de hipertiroidismo, se investigó la posibilidad de interferencias analíticas en los inmunoensayos utilizados para la medición de las hormonas. Se han descrito interferencias causadas por anticuerpos heterófilos, macro TSH, anticuerpos anti-tiroideos, biotina, y en menor medida anticuerpos anti-estreptavidina y anti-rutenio. Los análisis de la paciente se realizaron en autoanalizador cuya plataforma emplea el sistema estreptavidina-biotina que es muy susceptible a varios interferentes. Un algoritmo propuesto incluye una serie de pruebas simples de realizar e interpretar que permiten detectar o descartar la presencia de interferentes. De acuerdo al mismo, se efectuó la comparación con una plataforma analítica diferente (que no utiliza el sistema estreptavidina-biotina), diluciones seriadas, precipitación con polietilenglicol 6000 y tratamiento con micropartículas recubiertas con estreptavidina. Los resultados obtenidos confirmaron la presencia de anticuerpos anti-estreptavidina en el suero de la paciente. Ante discordancias entre las manifestaciones clínicas y los resultados de laboratorio, se debe investigar la posibilidad de interferencias metodológicas para evitar el riesgo iatrogénico potencial que implica una interpretación bioquímica errónea.


We present the case of a patient who, during studies for fertility and subsequent pregnancy, showed an altered thyroid profile with elevated levels of free T4 and normal TSH. After ruling out a thyrotropic adenoma and in the absence of clinical symptoms of hyperthyroidism, the possibility of analytical interference in the immunoassays used to measure hormones was investigated. Interferences caused by heterophile antibodies, macro TSH, anti-thyroid antibodies, biotin, and to a lesser extent anti-streptavidin and anti-ruthenium antibodies have been described. The analysis of the patient was carried out in a self-analyzer whose platform uses the streptavidin-biotin system that is very susceptible to several interferents. A proposed algorithm includes a series of simple tests to perform and interpret that allow detecting or ruling out the presence of interferents. Accordingly, a comparison was made with a different analytical platform (which does not use the streptavidin-biotin system), serial dilutions, precipitation with polyethylene glycol 6000 and treatment with microparticles coated with streptavidin. Results obtained confirmed the presence of anti-streptavidin antibodies in the patient's serum. In the case of disagreements between clinical manifestations and laboratory results, the possibility of methodological interferences should be investigated in order to avoid the potential iatrogenic risk involved in an erroneous biochemical interpretation.


Subject(s)
Humans , Female , Pregnancy , Adult , Pituitary Neoplasms/diagnosis , Adenoma/diagnosis , Antibodies, Anti-Idiotypic/immunology , Streptavidin/immunology , Hyperthyroidism/diagnosis , Pituitary Neoplasms/immunology , Thyroxine/blood , Triiodothyronine/blood , Thyrotropin/blood , Adenoma/immunology , Diagnostic Errors , Hyperthyroidism/immunology
9.
J. coloproctol. (Rio J., Impr.) ; 39(3): 197-202, June-Sept. 2019. tab, graf, ilus
Article in English | LILACS | ID: biblio-1040329

ABSTRACT

ABSTRACT Background and aim: Right colon adenomas can easily missed with significant adenoma miss rate particularly when they are located behind the haustral folds and anatomical flexures. The aim of this study was to assess the significance of retroflexion technique in the right colon for improving adenoma detection rates compared with forward-view technique. Methods: A total of 200 patients scheduled for elective colonoscopy were recruited. During the standard forward-view examination, the colonoscope was withdrawn from the cecum to the hepatic flexure while under meticulous observation. Subsequently, the cecum was reintubated and the right side of the colon was assessed in the retroflexed-view to the hepatic flexure. The primary outcome of this study was comparison of the adenoma detection rates and adenoma miss rate of the retroflexed-view versus forward-view examination of the right colon. Results: Of the 200 enrolled patients, retroflexion was successful in 182 (91%). Forward-view examination of the right colon detected 88 polyps, of which 66 were adenomas yielding a polyp and adenoma detection rates of 25.5% and 19%, respectively. Additionally, retroflexion detected a further 30 polyps of which 23 were adenomas, accordingly improving the polyp and adenoma detection rates to 29.5% and 25%, respectively. Furthermore, the polyp and adenoma miss rate in the right colon was 24.1% and 25.8% respectively. Conclusion: Colonoscopy with right-sided retroflexion after forward-view examination significantly increases the detection of adenomas compared with standard forward-view examination with a high success rate and small risk of adverse events.


RESUMO Antecedentes e objetivo: Os adenomas do cólon direito podem não ser diagnosticados, apresentando uma elevada taxa de não detecção de adenoma, especialmente quando estão localizados atrás das pregas haustrais e flexões anatômicas. O objetivo deste estudo foi comparar, no cólon direito, a técnica de visualização retroflexionada com a técnica de visualização frontal quanto à taxa de detecção de adenoma. Métodos: Um total de 200 pacientes agendados para colonoscopia eletiva foram recrutados para o presente estudo. Durante o exame de visualização frontal padrão, o colonoscópio foi retirado do ceco em direção à flexão hepática sob observação meticulosa. Posteriormente, o ceco foi reintubado e o lado direito do cólon foi avaliado na visualização retroflexionada em direção à flexão hepática. O objetivo primário deste estudo foi comparar a taxa de detecção de adenoma e a taxa de não detecção de adenoma do exame de visualização retroflexionada e visualização frontal do cólon direito. Resultados: Dos 200 pacientes inscritos, a retroflexão foi bem sucedida em 182 (91%). A visualização frontal do cólon direito detectou 88 pólipos, dos quais 66 eram adenomas, com uma taxa de detecção de pólipos e taxa de detecção de adenoma de 25,5% e 19%, respectivamente. Além disso, a visualização retroflexionada detectou mais 30 pólipos, dos quais 23 eram adenomas, aumentando a taxa de detecção de pólipos e adenoma para 29,5% e 25%, respectivamente. Além disso, a taxa não detecção de pólipos e a taxa de não detecção de adenoma no cólon direito foram de 24,1% e 25,8%, respectivamente. Conclusão: A colonoscopia com visualização retroflexionada direita após visualização frontal aumenta significativamente a detecção de adenomas em comparação com a visualização frontal padrão, com uma alta taxa de sucesso e baixo risco de eventos adversos.


Subject(s)
Humans , Male , Female , Adenoma/diagnosis , Colonoscopy , Polyps , Colon/pathology , Colonic Neoplasms
10.
Arch. endocrinol. metab. (Online) ; 63(4): 385-393, July-Aug. 2019. tab, graf
Article in English | LILACS | ID: biblio-1019354

ABSTRACT

ABSTRACT Introduction Gigantism is a rare pediatric disease characterized by increased production of growth hormone (GH) before epiphyseal closure, that manifests clinically as tall stature, musculoskeletal abnormalities, and multiple comorbidities. Materials and methods Case series of 6 male patients with gigantism evaluated at the Endocrinology Service of Hospital de San José (Bogotá, Colombia) between 2010 and 2016. Results All patients had macroadenomas and their mean final height was 2.01 m. The mean age at diagnosis was 16 years, and the most common symptoms were headache (66%) and hyperhidrosis (66%). All patients had acral changes, and one had visual impairment secondary to compression of the optic chiasm. All patients underwent surgery, and 5 (83%) required additional therapy for biochemical control, including radiotherapy (n = 4, 66%), somatostatin analogues (n = 5, 83%), cabergoline (n = 3, 50%), and pegvisomant (n = 2, 33%). Three patients (50%) achieved complete biochemical control, while 2 patients showed IGF-1 normalization with pegvisomant. Two patients were genetically related and presented a mutation in the aryl hydrocarbon receptor-interacting protein (AIP) gene (pathogenic variant, c.504G>A in exon 4, p.Trp168*), fulfilling the diagnostic criteria of familial isolated pituitary adenoma. Conclusions This is the largest case series of patients with gigantism described to date in Colombia. Transsphenoidal surgery was the first-choice procedure, but additional pharmacological therapy was usually required. Mutations in the AIP gene should be considered in familial cases of GH-producing adenomas.


Subject(s)
Humans , Male , Adolescent , Young Adult , Pituitary Neoplasms/therapy , Adenoma/therapy , Gigantism/therapy , Pedigree , Pituitary Neoplasms/diagnosis , Insulin-Like Growth Factor I/analysis , Growth Hormone/blood , Adenoma/diagnosis , Retrospective Studies , Follow-Up Studies , Treatment Outcome , Sex Distribution , Colombia , Intracellular Signaling Peptides and Proteins/genetics , Growth Hormone-Secreting Pituitary Adenoma/genetics , Gigantism/diagnosis , Mutation/genetics
11.
Medicina (B.Aires) ; 79(3): 191-196, June 2019. tab
Article in English | LILACS | ID: biblio-1020058

ABSTRACT

Clinical presentation, treatment and its results were evaluated during long-term follow-up of 37 patients older than 65 years with pituitary adenomas. Causes of death were also evaluated. It was a retrospective and cross-sectional study. Prevalence of incidentalomas was 43% (16), macroadenomas 70.3% (26) and giant adenomas 16.2% (6). The most frequent tumor phenotype was the non-functioning adenoma (76%). The prevalence of visual field defects and neurological symptoms was 56% and 57%, respectively. We found normal pituitary function in 54%, partial deficiency in 30% and panhypopituitarism in 16%. Thirty-two patients were treated, 5 were lost to follow-up without receiving treatment. Surgery was indicated in 18. Of those operated by trans-sphenoidal approach, 23% had postsurgical complications and 54% improved the visual field. By trans-craneal approach, 50% had post-surgical complications and 33% visual field improvement. During follow-up (55.1 ± 48.7 months) no tumor regrowth was observed, except in a giant adenoma. Four operated patients died, two due to causes related to tumor. Fourteen were not operated, 11 with non-functioning adenomas and normal visual field were periodically controlled, and 3 with secreting adenomas received medical treatment. No tumor growth was observed during follow-up (43.7 ± 38.1 months). We did not observe tumor progression in elderly patients with non-functioning adenomas and normal visual field, so we suggest watchful approach and periodic control. When there are visual field defects, trans-sphenoidal surgery can be considered safe and effective. In secreting adenomas and depending on the associated comorbidities, medical treatment would be the appropriate approach.


Se evaluó la presentación clínica, tratamiento y sus resultados durante el seguimiento prolongado de 37 pacientes mayores de 65 años con adenomas hipofisarios, y sus causas de muerte. El estudio fue retrospecti vo y transversal. La prevalencia de incidentalomas fue 43% (16), macroadenomas 70.3% (26) y adenomas gigantes 16.2% (6). El fenotipo tumoral más frecuente fue el adenoma no funcionante (76%). La prevalencia de alteraciones en el campo visual y síntomas neurológicos fue 56% y 57% respectivamente. El 54% tuvo función hipofisaria normal, deficiencia parcial el 30% y panhipopituitarismo el 16%. Fueron tratados 32, 5 se perdieron en el seguimiento sin recibir tratamiento. Indicamos cirugía en 18. De los operados por vía transesfenoidal, el 23% tuvo complicaciones postquirúrgicas y el 54% mejoría del campo visual. Por vía transcraneal el 50% sufrió complicaciones post quirúrgicas y el 33% mejoró el campo visual. Durante el seguimiento (55.1 ± 48.7 meses) no observamos recrecimiento tumoral, excepto en un adenoma gigante. Cuatro pacientes operados murieron, dos por causas al tumor. Catorce no fueron operados, 11 con adenomas no funcionantes y campo visual normal fueron controlados periódicamente y 3 con adenomas funcionantes recibieron tratamiento médico. No observamos crecimiento tumoral durante el seguimiento (43.7 ± 38.1 meses). No observamos crecimiento tumoral en adenomas no funcionantes y campo visual normal, por lo que sugerimos conducta expectante y control periódico. Cuando existe alteración del campo visual, la cirugía transesfenoidal es segura y efectiva. En los adenomas secretantes y dependiendo de las comorbilidades, sería apropiado optar por tratamiento médico.


Subject(s)
Humans , Male , Female , Aged , Aged, 80 and over , Pituitary Neoplasms/therapy , Adenoma/therapy , Pituitary Hormones , Pituitary Neoplasms/diagnosis , Pituitary Neoplasms/mortality , Adenoma/surgery , Adenoma/diagnosis , Adenoma/mortality , Cross-Sectional Studies , Retrospective Studies , Cause of Death , Treatment Outcome
12.
Medicina (B.Aires) ; 79(3): 191-196, June 2019. tab
Article in Spanish | LILACS | ID: biblio-1020057

ABSTRACT

Se evaluó la presentación clínica, tratamiento y sus resultados durante el seguimiento prolongado de 37 pacientes mayores de 65 años con adenomas hipofisarios, y sus causas de muerte. El estudio fue retrospectivo y transversal. La prevalencia de incidentalomas fue 43% (16), macroadenomas 70.3% (26) y adenomas gigantes 16.2% (6). El fenotipo tumoral más frecuente fue el adenoma no funcionante (76%). La prevalencia de alteraciones en el campo visual y síntomas neurológicos fue 56% y 57% respectivamente. El 54% tuvo función hipofisaria normal, deficiencia parcial el 30% y panhipopituitarismo el 16%. Fueron tratados 32, 5 se perdieron en el seguimiento sin recibir tratamiento. Indicamos cirugía en 18. De los operados por vía transesfenoidal, el 23% tuvo complicaciones postquirúrgicas y el 54% mejoría del campo visual. Por vía transcraneal el 50% sufrió complicaciones post quirúrgicas y el 33% mejoró el campo visual. Durante el seguimiento (55.1 ± 48.7 meses) no observamos recrecimiento tumoral, excepto en un adenoma gigante. Cuatro pacientes operados murieron, dos por causas al tumor. Catorce no fueron operados, 11 con adenomas no funcionantes y campo visual normal fueron controlados periódicamente y 3 con adenomas funcionantes recibieron tratamiento médico. No observamos crecimiento tumoral durante el seguimiento (43.7 ± 38.1 meses). No observamos crecimiento tumoral en adenomas no funcionantes y campo visual normal, por lo que sugerimos conducta expectante y control periódico. Cuando existe alteración del campo visual, la cirugía transesfenoidal es segura y efectiva. En los adenomas secretantes y dependiendo de las comorbilidades, sería apropiado optar por tratamiento médico.


Clinical presentation, treatment and its results were evaluated during long-term follow-up of 37 patients older than 65 years with pituitary adenoma. Causes of death were also evaluated. It was a retrospective and cross-sectional study. Prevalence of incidentalomas was 43% (16), macroadenomas 70.3% (26) and giant adenomas 16.2% (6). The most frequent tumor phenotype was the non-functioning adenoma (76%). The prevalence of visual field defects and neurological symptoms was 56% and 57% respectively. We found normal pituitary function in 54%, partial deficiency in 30% and panhypopituitarism in 16%. Thirty-two patients were treated, 5 were lost to follow-up without receiving treatment. Surgery was indicated in 18. Of those operated by trans-sphenoidal approach, 23% had postsurgical complications and 54% improved the visual field. By trans-craneal approach, 50% had post-surgical complications and 33% visual field improvement. During follow-up (55.1 ± 48.7 months) no tumor regrowth was observed, except in a giant adenoma. Four operated patients died, two due to causes related to tumor. Fourteen were not operated, 11 with non-functioning adenoma and normal visual field were periodically controlled and 3 with secreting adenomas received medical treatment. No tumor growth was observed during follow-up (43.7 ± 38.0 months). We did not observe tumor progression in elderly patients with non-functioning adenoma and normal visual field, so we suggest watchful approach and periodic control. When there are visual field defects, trans-sphenoidal surgery can be considered safe and effective. In secreting adenomas and depending on the associated comorbidities, medical treatment would be the appropriate approach.


Subject(s)
Humans , Male , Female , Aged , Aged, 80 and over , Pituitary Neoplasms/therapy , Adenoma/therapy , Pituitary Hormones , Pituitary Neoplasms/diagnosis , Pituitary Neoplasms/mortality , Adenoma/surgery , Adenoma/diagnosis , Adenoma/mortality , Cross-Sectional Studies , Retrospective Studies , Cause of Death , Treatment Outcome
13.
Rev. chil. endocrinol. diabetes ; 12(4): 205-207, 2019.
Article in Spanish | LILACS | ID: biblio-1088026

ABSTRACT

INTRODUCCIÓN: El carcinoma de paratiroides es una enfermedad de difícil diagnóstico, siendo perentorio una detección precoz y un tratamiento oportuno para prevenir las complicaciones. CASO CLÍNICO: Se presenta paciente de 42 años que debuta con hipercalcemia de 16.1 mg/dl, PTH 1573 pg/mL y lesión sugerente de adenoma de paratiroides. Biopsia quirúrgica identifica carcinoma paratiroideo sin invasión, realizándose posteriormente lobectomía derecha con foco de 0,1 mm de carcinoma paratiroideo, con bordes libres. En comité oncológico se decide seguimiento estricto; sin embargo, a los seis meses requiere hospitalización nuevamente por hipercalcemia, a la ecografía cervical presenta dos nódulos hipoecogénicos menores a 1 cm en lecho quirúrgico. Tomografía computada sin evidencia de lesiones. Con estos antecedentes, se decide exploración cervical, encontrándose tumor de 2 cm, multilobulado, paraesofágico. Biopsia evidencia carcinoma paratiroideo con invasión en tejido graso y músculo estriado. Se descarta radioterapia paliativa y quimioterapia debido a escasa evidencia, quedando en cuidados paliativos. DISCUSIÓN: El cáncer de paratiroides es una enfermedad de difícil diagnóstico. En muchos casos se ha descrito la crisis hipercalcémica como presentación inicial. La resección en bloque de la lesión de paratiroides con hemitiroidectomía ipsilateral es el tratamiento estándar. Es un tumor radio resistente y la quimioterapia adyuvante no ha demostrado aumento en la sobrevida. En pacientes con enfermedad inoperable, el pronóstico es pobre, siendo fundamental el control de calcemia y PTH, las cuales son la causa principal de morbimortalidad. CONCLUSIONES: El carcinoma paratiroideo es una enfermedad rara, cuyo diagnóstico y tratamiento representan un verdadero desafío clínico, siendo crucial el alto índice de sospecha. Su curso es crónico y de mal pronóstico, por lo que para pacientes de alto riesgo debe considerarse una cirugía radical desde el inicio.


INTRODUCTION: Parathyroid carcinoma is a difficult diagnosis, with early detection and timely treatment to prevent complications being imperative. CLINICAL CASE: A 42-year-old patient presenting with hypercalcemia of 16.1 mg / dl, PTH 1573 pg / mL and suggestive lesion of parathyroid adenoma is presented. Surgical biopsy identifies parathyroid carcinoma without invasion, subsequently performing right lobectomy with 0.1 mm focus of parathyroid carcinoma, with free borders. Oncological committee, strict follow-up is decided; However, at six months he requires hospitalization again for hypercalcemia, at cervical ultrasound he presents two hypoechogenic nodules smaller than 1 cm in the surgical bed. CT scan without evidence of injuries. With this background, cervical exploration is decided, finding a 2 cm, multilobed, paraesophageal tumor. Biopsy shows parathyroid carcinoma with invasion of fatty tissue and striated muscle. Palliative radiotherapy and chemotherapy are ruled out due to limited evidence, remaining in palliative care. DISCUSSION: Parathyroid cancer is a difficult diagnosis disease. In many cases the hypercalcemic crisis has been described as an initial presentation. Block resection of the parathyroid lesion with ipsilateral hemitiroidectomy is the standard treatment. It is a radioresistant tumor and adjuvant chemotherapy has not shown an increase in survival. In patients with inoperable disease, the prognosis is poor, with the control of calcemia and PTH being essential, which are the main cause of morbidity and mortality. CONCLUSIONS: Parathyroid carcinoma is a rare disease, the diagnosis and treatment of which represent a real clinical challenge, the high index of suspicion being crucial. Its course is chronic and has a poor prognosis, so for high-risk patients, radical surgery should be considered from the beginning.


Subject(s)
Humans , Female , Middle Aged , Parathyroid Neoplasms/complications , Parathyroid Neoplasms/diagnosis , Adenoma/complications , Adenoma/diagnosis , Hypercalcemia/etiology , Parathyroid Neoplasms/surgery , Adenoma/surgery
14.
Rev. méd. Chile ; 146(6): 685-692, jun. 2018. tab, graf
Article in Spanish | LILACS | ID: biblio-961448

ABSTRACT

Background: Colorectal Cancer Screening Programs (CRCSP) are widely accepted in developed countries. Unfortunately, financial restrictions, low adherence rate and variability on colonoscopy standardization hamper the implementation of CRCSP in developing countries. Aim: To analyze a multicentric pilot model of CRCSP in Chile. Material and Methods: A prospective model of CRCSP was carried out in three cities, from 2012 to 2015. The model was based on CRC risk assessment and patient education. Health care personnel were trained about logistics and protocols. The endoscopy team was trained about colonoscopy standards. A registered nurse was the coordinator in each center. We screened asymptomatic population aged between 50 and 75 years. Immunological fecal occult blood test (FIT) was offered to all participants. Subjects with positive FIT underwent colonoscopy. Results: A total of 12,668 individuals were enrolled, with a FIT compliance rate of 93.9% and 2,358 colonoscopies were performed. Two hundred and fifty high-risk adenomas and 110 cancer cases were diagnosed. One patient died before treatment due to cardiovascular disease, 74 patients (67%) underwent endoscopic resection and 35 had surgical treatment. Ninety one percent of patients had an early stage CRC (0-I-II). Among colonoscopy indicators, 80% of cases had an adequate bowel preparation (Boston > 6), cecal intubation rate was 97.7%, adenoma detection rate was 36.5%, and in 94.5% of colonoscopies, withdrawal time was adequate (> 8 min). Conclusions: This CRCS pilot model was associated to a high rate of FIT return and colonoscopy quality standards. Most CRCs detected with the program were treated by endoscopic resection.


Subject(s)
Humans , Male , Female , Middle Aged , Aged , Colorectal Neoplasms/diagnosis , Program Evaluation , Adenoma/diagnosis , Colonoscopy/methods , Risk Assessment/methods , Early Detection of Cancer/methods , Colorectal Neoplasms/pathology , Adenoma/pathology , Chile , Pilot Projects , Nutritional Status , Patient Education as Topic , Prospective Studies , Reproducibility of Results , Risk Factors , Analysis of Variance , Colonoscopy/standards , Early Detection of Cancer/standards , Occult Blood
15.
Rev. chil. endocrinol. diabetes ; 11(1): 16-19, 2018. tab, ilus
Article in Spanish | LILACS | ID: biblio-999028

ABSTRACT

INTRODUCTION: The hypercalcemia is infrequent in pediatrics, its clinical is diverse, and its etiology is determined by age. Among the dependent causes of parathormone (PHT) is the hyperthyroidism, state of hypersecretion of PHT by parathyroid glands (PG). The primary hyperparathyroidism (PHPT) is rare in children, there are 200 reported cases. In older children, the causes for PHPT correspond to parathyroid adenoma, multiglandular disease and parathyroid carcinoma. OBJECTIVE: Report a case of an 11 years old male adolescent. He presents three months symptoms of constipation, anorexia, vomiting and weight loss. Urgent consultation due to an increase of his symptoms, in exams stand out: calcemia 16.67 mg/dl (NV 8.8-10.8 mg/dl), phosphatemia 2.21 mg/dl (NV 4.5-5.5 mg/dl), parathormone (PHT) 308.7 pg/ml (NV 15-68.3 pg/ml), calciuria/creatininuria 0.56 (NV < 0.2). He was hospitalized to manage his severe hypercalcemia, it was indicated hyperhydration, monopotassium phosphate, intravenous hydrocortisone and furosemide. In his study was performed a cervical ultrasound which showed a solid node in the right parathyroid gland, hypoechogenic and scintigram parathyroid compatible with right superior parathyroid adenoma. In the waiting for surgery was necessary the administration of intravenous pamidronate. In the post-operatory, he evolved with hipocalcemia that was corrected with intravenous calcium carbonate, overlapping to oral calcium and calcitriol. CONCLUSION: The PHPT is a pathology of low prevalence in pediatrics, one hundred times less than adults. In the adolescent, the most frequent cause is the parathyroid adenoma. It should be considered as a differential diagnosis in cases of symptomatic hypercalcemia in this age group


Subject(s)
Humans , Male , Child , Parathyroid Neoplasms/diagnosis , Adenoma/diagnosis , Hyperparathyroidism, Primary/etiology , Parathyroid Hormone/blood , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/complications , Phosphorus/blood , Thyroid Gland/diagnostic imaging , Adenoma/surgery , Adenoma/complications , Calcium/blood , Parathyroidectomy , Hyperparathyroidism, Primary/surgery , Hyperparathyroidism, Primary/diagnosis , Hypercalcemia/diagnosis , Hypercalcemia/etiology
16.
Rev. chil. endocrinol. diabetes ; 10(4): 150-153, oct. 2017. ilus, tab
Article in Spanish | LILACS | ID: biblio-999026

ABSTRACT

A case study of a 41 years old woman with cyclic hypercortisolism is explained. AT the beginning, its manegment was shrinking the tumor, however afterward she needs medical treatment during cycles. The fluctuating clinical and discrepant bioquemical findings make it hard to diagnose. A review of this rare disorder is explained.


Subject(s)
Humans , Adult , Pituitary Neoplasms/complications , Adenoma/complications , Cushing Syndrome/diagnosis , Cushing Syndrome/etiology , Pituitary Neoplasms/diagnosis , Time Factors , Adenoma/diagnosis , Adrenocortical Hyperfunction/diagnosis , Adrenocortical Hyperfunction/etiology
18.
Arch. endocrinol. metab. (Online) ; 60(4): 374-390, Aug. 2016. tab, graf
Article in English | LILACS | ID: lil-792938

ABSTRACT

ABSTRACT Clinically nonfunctioning pituitary adenomas (NFPA) are the most common pituitary tumors after prolactinomas. The absence of clinical symptoms of hormonal hypersecretion can contribute to the late diagnosis of the disease. Thus, the majority of patients seek medical attention for signs and symptoms resulting from mass effect, such as neuro-ophthalmologic symptoms and hypopituitarism. Other presentations include pituitary apoplexy or an incidental finding on imaging studies. Mass effect and hypopituitarism impose high morbidity and mortality. However, early diagnosis and effective treatment minimizes morbidity and mortality. In this publication, the goal of the Neuroendocrinology Department of the Brazilian Society of Endocrinology and Metabolism is to provide a review of the diagnosis and treatment of patients with NFPA, emphasizing that the treatment should be performed in reference centers. This review is based on data published in the literature and the authors’ experience. Arch Endocrinol Metab. 2016;60(4):374-90.


Subject(s)
Humans , Male , Female , Pituitary Neoplasms/diagnosis , Pituitary Neoplasms/therapy , Neuroendocrinology , Adenoma/diagnosis , Societies, Medical , Brazil , Magnetic Resonance Imaging , Adenoma/therapy , Risk Factors , Early Diagnosis , Antineoplastic Agents/therapeutic use
19.
Arch. endocrinol. metab. (Online) ; 60(3): 267-286, tab, graf
Article in English | LILACS | ID: lil-785230

ABSTRACT

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.


Subject(s)
Humans , Adenoma/diagnosis , Cushing Syndrome/diagnosis , Consensus , ACTH-Secreting Pituitary Adenoma/diagnosis , Brazil , Dexamethasone , Hydrocortisone/blood , Magnetic Resonance Imaging , Adenoma/complications , Chromatography, High Pressure Liquid , Cushing Syndrome/etiology , Diagnosis, Differential , ACTH-Secreting Pituitary Adenoma/complications , Glucocorticoids
20.
Gut and Liver ; : 76-82, 2016.
Article in English | WPRIM | ID: wpr-111614

ABSTRACT

BACKGROUND/AIMS: Esophageal squamous cell carcinoma (ESCC) and colorectal neoplasms (CRNs) share risk factors. We aimed to investigate whether the CRN risk is increased in ESCC patients. METHODS: ESCC patients who underwent a colonoscopy within 1 year of diagnosis were retrospectively analyzed. Patients were matched 1:3 by age, gender, and body mass index to asymptomatic controls. CRN was defined as the histological confirmation of adenoma or adenocarcinoma. Advanced CRN was defined as any of the following: > or =3 adenomas, high-grade dysplasia, villous features, tumor > or =1 cm, or adenocarcinoma. The risk factors for both CRN and advanced CRN were evaluated by univariate and multivariate analyses. RESULTS: Sixty ESCC patients were compared with 180 controls. The ESCC group had significantly higher numbers of CRNs (odds ratio [OR], 2.311; 95% confidence interval [CI], 1.265 to 4.220; p=0.006) and advanced CRNs (OR, 2.317; 95% CI, 1.185 to 4.530; p=0.013). Significant risk factors for both CRN and advanced CRN by multivariate analysis included ESCC (OR, 2.157, 95% CI, 1.106 to 4.070, p=0.024; and OR, 2.157, 95% CI, 1.045 to 4.454, p=0.038, respectively) and older age (OR, 1.068, 95% CI, 1.032 to 1.106, p<0.001; and OR, 1.065, 95% CI, 1.024 to 1.109, p=0.002, respectively). CONCLUSIONS: The rates of CRN and advanced CRN are significantly increased in ESCC. Colonos-copy should be considered at ESCC diagnosis.


Subject(s)
Adenocarcinoma/diagnosis , Adenoma/diagnosis , Aged , Carcinoma, Squamous Cell/diagnosis , Case-Control Studies , Colonoscopy , Colorectal Neoplasms/diagnosis , Esophageal Neoplasms/diagnosis , Female , Humans , Male , Middle Aged , Neoplasms, Multiple Primary/diagnosis , Odds Ratio , Retrospective Studies , Risk Factors
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