Asunto(s)
Glándulas Suprarrenales/patología , Hormona Adrenocorticotrópica/fisiología , Síndrome de Cushing/tratamiento farmacológico , Metirapona/efectos adversos , Metirapona/uso terapéutico , Glándulas Suprarrenales/fisiopatología , Anciano , Síndrome de Cushing/fisiopatología , Relación Dosis-Respuesta a Droga , Inhibidores Enzimáticos/efectos adversos , Inhibidores Enzimáticos/uso terapéutico , Femenino , Humanos , Hiperplasia , Esteroide 11-beta-Hidroxilasa/antagonistas & inhibidores , Resultado del TratamientoRESUMEN
We report two Japanese women with androgen excess symptoms. Analyses of 21-hydroxylase gene demonstrated that a 24-year-old Japanese woman had a homozygous mutation of IVS2-13 A/C>G, while a 25-year-old Japanese woman had a compound heterozygous mutation of I172N and E245del1nt, a novel mutation which would result in completely nonfunctional enzyme due to a frame shift. As IVS2-13 A/C>G and I172N have been classified as mutations leading to severe impairment in enzyme activity, this study not only clarified a novel mutation causing 21-hydroxylase deficiency, but also demonstrated that genotype and phenotype do not correlate well in these cases.
Asunto(s)
Pueblo Asiatico/genética , Esteroide 21-Hidroxilasa/genética , Esteroide 21-Hidroxilasa/metabolismo , Hiperplasia Suprarrenal Congénita/diagnóstico , Hiperplasia Suprarrenal Congénita/enzimología , Hiperplasia Suprarrenal Congénita/genética , Adulto , Femenino , Humanos , Adulto JovenRESUMEN
A 62-year-old man presented with right-sided abdominal pain. Radiologic examinations disclosed a solid tumor in the ileocecal mesentery that obstructed the right ureter, thus resulting in urinary extravasation. An en bloc tumor resection with the ascending colon, the terminal ileum, and a portion of the right ureter was performed. Histopathologically, the tumor was adenocarcinoma with extensive neuroendocrine differentiation which had arisen in an ileal diverticulum. The patient developed metastases to the lymph nodes, liver, and brain, and died 18 months after surgery.