ObjectiveMultiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome characterized by its clinical variability and complexity in diagnosis and treatment. We performed both clinical and molecular descriptions of four families with MEN1 in a follow-up at a tertiary center in Brasília.MethodsFrom a preliminary review of approximately 500 medical records of patients with pituitary neuroendocrine tumor (PitNET) from the database of the Neuroendocrinology Outpatient Clinic of the University Hospital of Brasília, a total of 135 patients met the criteria of at least two affected family members. From this cohort, we have identified 34 families: only four with a phenotype of MEN1 and the other 30 families with the phenotype of familial isolated pituitary adenoma (FIPA). Eleven patients with a clinical diagnosis of MEN1 from these four families were selected.ResultsVariants in MEN1 gene were identified in all families. One individual from each family underwent genetic testing using targeted high-throughput sequencing (HTS). All patients had primary hyperparathyroidism (PHPT), and the second most common manifestation was PitNET. One individual had well-differentiated liposarcoma, which has been previously reported in a single case of MEN1. Three variants previously described in the database and a novel variant in exon 2 have been found.ConclusionsThe study allowed the genotypic and phenotypic characterization of families with MEN1 in a follow-up at a tertiary center in Brasília.
A secreção ectópica de hormônio adrenocorticotrófico representa cerca de 5% a 10% dos casos de síndrome de Cushing ACTH-dependente. Os tumores carcinoides brônquicos são os mais prevalentes. Os autores relatam o caso de um doente do sexo masculino com hipercortisolismo grave associado a hipocalemia. Depois de extensa investigação, foi diagnosticado tumor carcinoide brônquico, e o paciente foi submetido a tratamento cirúrgico. Cursou no período pósoperatório com insuficiência suprarrenal. Atualmente, encontra-se sem sinais clínicos ou bioquímicos de recidiva da doença. O caso relatado mostra a importância do reconhecimento da secreção ectópica da suprarrenal em um doente com hipercortisolismo endógeno grave associado a hipocalemia, bem como expõe as dificuldades no diagnóstico e no manejo desses doentes. ABSTRACTEctopic adrenocorticotropic hormone secretion accounts for 5% to 10% of ACTH-dependent Cushing's syndrome. Bronchial carcinoid tumors are the most prevalent tumors. The authors report a case of a male patient with severe hypercortisolism associated with hypokalemia. During the investigation, a bronchial carcinoid tumor was diagnosed and the patient was submitted to surgery and evolved in the postoperative period with adrenal insufficiency. Currently, there are no clinical or biochemical signs of recurrence of the disease. The reported case shows the importance in the recognition of the ectopic secretion of adrenocorticotropic hormone in a patient exhibiting severe endogenous hypercortisolism associated with hypokalemia, as well as the difficulties in the diagnosis and management of these patients.
Objetivo: Descrever a eficácia da reposição de testosterona durante a menopausa para o tratamento da diminuição da libido, assim como suas indicações, contraindicações e riscos. Revisão bibliográfica: Durante a menopausa, os níveis de estradiol e testosterona diminuem significativamente em cerca de 50-80%, ou seja, o tratamento da baixa libido feminina é necessário, apesar de que o único critério de indicação formal para tal é o distúrbio de desejo sexual hipoativo. Antes de iniciar o tratamento, deve-se realizar uma avaliação clínica e laboratorial completa. As doses da terapia devem se aproximar das concentrações fisiológicas de testosterona na pré-menopausa. Entre os benefícios da reposição pode-se citar: lubrificação e aumento nos escores de desejo e excitação sexual. Já entre os riscos, nota-se: acne, hirsutismo, disfonia e alopecia. Entre as contraindicações está a disfunção hepática e a dislipidemia. Por fim, é importante pontuar as limitações referentes à terapia com testosterona como a falta de formulações aprovadas para mulheres e o fato de que, em muitos países, o seu uso continua off-label. Considerações finais: A reposição com testosterona na menopausa mostrou melhora no desejo sexual daquelas mulheres com diagnóstico prévio de disfunção sexual e diminuição da libido.
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