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Purpose: To establish the Southern blotting technique using hybridization with a nonradioactive probe to detect large rearrangements of CYP21A2 in a Brazilian cohort with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH-21OH)., Method: We studied 42 patients, 2 of them related, comprising 80 non-related alleles. DNA samples were obtained from peripheral blood, digested by restriction enzyme Taq I, submitted to Southern blotting and hybridized with biotin-labeled probes., Results: This method was shown to be reliable with results similar to the radioactive-labeling method. We found CYP21A2 deletion (2.5%), large gene conversion (8.8%), CYP21AP deletion (3.8%), and CYP21A1P duplication (6.3%). These frequencies were similar to those found in our previous study in which a large number of cases were studied. Good hybridization patterns were achieved with a smaller amount of DNA (5 mug), and fragment signs were observed after 5 minutes to 1 hour of exposure., Conclusions: We established a non-radioactive (biotin) Southern blot/hybridization methodology for CYP21A2 large rearrangements with good results. Despite being more arduous, this technique is faster, requires a smaller amount of DNA, and most importantly, avoids problems with the use of radioactivity.

Purpose: The differential diagnosis between benign and malignant adrenal cortical tumors circumscribed to the gland is controversial. One hundred and seven patients with adrenal cortex tumors (excluding those with primary hyperaldosteronism) were studied to assess the 5-year survival rate of adults, children, patients stratified by pathological stage, and patients stratified according to Weiss's score of <3 or >3., Methods: The patients were evaluated both clinically and biochemically. One hundred and five patients underwent surgery and were classified pathologically as stages I, II, III, or IV. The tumors were weighed, measured, and classified according to Weiss's criteria and divided into 2 groups: <3 and >3., Results: After 5 years, the survival rate was 77.5% for the whole group, 74.61% for the adults, 84.3% for the children, 100% for stage I, 83.9% for stage II, 33% for stage III, and 11.7% for stage IV groups. Additionally, after 5 years, 100% of the patients with tumors with Weiss's score <3 were alive compared to 61.65% of those with Weiss's score >3. The average weights of the tumors of score <3 and >3 were 23.38 g 41.36 g and 376.3 538.76 g, respectively, which is a statistically significant difference. The average sizes of tumors of Weiss's score <3 and >3 were 3.67 2.2 cm and 9.64 5.8 cm, respectively, which is also a statistically significant difference., Conclusions: Weiss's score may be a good prognostic factor for tumors of the adrenal cortex. Additionally, there was a statistically significant difference between the average weight and size of tumors with benign behavior (Weiss's score <3) and those with malignant behavior (Weiss's score >3).

Pheochromocytoma is a rare neoplasm, found in 0.1% of all hypertensive patients. Extraadrenal pheochromocytomas occur in 18% of all cases and 1% accurate in the bladder. In this study, we report a case of a vesical pheochromocytoma in a 40-year-old male patient with typical clinical symptoms for 6 years. He related episodes of severe headaches and palpitation with increase of the blood pressure after micturition, which decreased within a few seconds and fatigue afterwards. The patient was evaluated through urinary catecholamine (NE: 263 ug/24 h; E: 14 ug/ 24 h; Dopa: 303 ug/24 h; normal range respectively < 80; < 20 and < 400) and plasma catecholamine level determinations before and after micturition (NE: 1.660-->34.790 pg/ml; E: 55-->231 pg/ml-normal range respectively < 268 and < 75). Magnetic resonance imaging, sonography and 131Iodine-methiliodobenzylguanidine scintigraphy were performed for diagnostic localization. In this case plasma catecholamine level determinations before and after voiding were important to confirm the diagnosis. All imaging techniques were able to disclose the tumor. Typical symptoms, diagnoses and therapy for vesical pheochromocytoma are described and compared to the reports found in the literature.

We compared 1.5 T magnetic resonance (MR) image findings in 193 patients with congenital pituitary insufficiency. One hundred and thirty nine of the MR studies were obtained in patients who had isolated growth hormone deficiency (GHD). Other fifty-four patients had multiple pituitary hormone deficiency (MPHD). On MR images, normal anterior and posterior lobes of the pituitary gland can be clearly differentiated because the posterior lobe has a characteristic high intensity on T1-weighted images. In fifty-four patients, the high-intensity of the posterior lobe was not seen, but a similar high signal intensity was observed at the proximal stump in fifty-one patients. This high-intensity area is the newly formed ectopic posterior lobe, which also secrets anti-diuretic hormone just as the posterior lobe would. MR imaging can demonstrate the transection of the pituitary stalk and the formation of the ectopic lobe, revealing to be a usefull diagnostic tool in the definition of the type of alteration in growth defects of endocrine origin.

The authors have performed in 150 cases the surgical reconstruction of the vagina using the McIndoe's technique. Since 1986 they are using the non-surgical technique devised by Frank in 1940. As a modification of the method, cylindric molds of acrilic with diameters varying between 1.5 and 3.0 cm have been used. Ten cases of congenital absence of the vagina and 12 intersex cases identified as belonging to the female sex, were treated by this progressive dilatation method. The results, were good and no complications occurred. The long-term follow-up has shown a stable and functional vagina. The main advantagens of the method are the simplicity and the low morbidity.