RESUMO
We describe the case of a 20-year-old patient with salt-wasting congenital adrenal hyperplasia (CAH) related to 21-hydroxylase deficiency. Bilateral craggy testicular tumours were found, requiring histological evaluation. Prior to the surgical procedure, the patient was treated with dexamethasone (he presented cortisol deficiency) and was stimulated with ACTH. High levels of 11beta-OH steroids measured in the gonadal vein, compared with peripheral blood samples suggested the presence of adrenal rests. Incubation of the tumours (which could not be differentiated histologically, from Leydig tissue), with radioactive steroid precursors was carried out. The results revealed the testicular tumours were of adrenal tissue origin, associated with 21-hydroxylase deficiency. The patient's non-compliance to glucocorticoid treatment was the main cause of his hypogonadotropic hypogonadism.
Assuntos
Hiperplasia Suprarrenal Congênita/complicações , Tumor de Resto Suprarrenal/etiologia , Esteroide 21-Hidroxilase/metabolismo , Neoplasias Testiculares/etiologia , Tumor de Resto Suprarrenal/diagnóstico , Tumor de Resto Suprarrenal/diagnóstico por imagem , Tumor de Resto Suprarrenal/tratamento farmacológico , Tumor de Resto Suprarrenal/patologia , Tumor de Resto Suprarrenal/cirurgia , Hormônio Adrenocorticotrópico/farmacologia , Adulto , Sulfato de Desidroepiandrosterona/sangue , Dexametasona/uso terapêutico , Diagnóstico Diferencial , Fludrocortisona/uso terapêutico , Hormônio Foliculoestimulante/sangue , Seguimentos , Glucocorticoides/uso terapêutico , Hormônio Liberador de Gonadotropina/metabolismo , Humanos , Hidrocortisona/deficiência , Hipogonadismo/etiologia , Inibinas/sangue , Tumor de Células de Leydig/diagnóstico , Hormônio Luteinizante/sangue , Masculino , Prolactina/sangue , Renina/sangue , Neoplasias Testiculares/diagnóstico , Neoplasias Testiculares/diagnóstico por imagem , Neoplasias Testiculares/tratamento farmacológico , Neoplasias Testiculares/patologia , Neoplasias Testiculares/cirurgia , Recusa do Paciente ao Tratamento , UltrassonografiaRESUMO
OBJECTIVE: The etiology of age-related macular degeneration (ARMD) is poorly understood. Risk factors for cardiovascular disease have been thought to be associated with ARMD. Our purpose was to measure the concentration of atherogenic apolipoproteins (apo) and lipoparticles in serum from ARMD patients. METHODS: We analyzed lipids, lipoparticles and apolipoproteins concentrations in 84 unrelated patients with ARMD and compared the results with those of age- and sex-matched control subjects (n=62). Serum lipid concentrations were determined enzymatically; apolipoproteins levels by kinetic nephelometry and lipoparticles by electroimmunodiffusion. RESULTS: No difference in total cholesterol, triglycerides, phospholipids, high- and low-density lipoprotein-cholesterol (lHDL-C and LDL-C) concentrations were observed between ARMD patients and controls. Apo E and LpE non-B concentrations were found to be higher in serum from patients than in serum from controls. In contrast, Apo C-III and LpC-III non-B concentrations were lower in serum from patients than in serum from controls. CONCLUSIONS: The main differences observed between ARMD patients and controls are in Apo E, Apo C-III, LpC-III non-B and LpE non-B concentrations. These lipoparticles belong to the HDL family, which is considered to consist of anti-atherogenic lipoproteins. These results raise the possibility that cardiovascular risk factors are not associated with ARMD. Furthermore, we can hypothesize that ARMD development is linked to perturbations of HDL metabolism.