Male pseudohermaphroditism due to nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency: gender role change and absence of gynecomastia at puberty.

Adrenal and gonadal functions were evaluated on two adult cousins with male pseudohermaphroditism due to congenital 3 beta-hydroxysteroid dehydrogenase deficiency (3 beta-HSD) without clinical salt-losing. Both patients had been reared as females since birth. Case 1 presented at age 17 with perineal hypospadias virilization without gynecomastia and a female to male gender role change at puberty. Case 2 had previously undergone bilateral orchidectomy in childhood and presented "primary amenorrhea", absence of virilization and a female gender role at the age of 24. In the basal state, as well as after ACTH and hCG stimulation, 3 beta-hydroxy-5-ene-steroid levels were disproportionately elevated, resulting in abnormal 3 beta-hydroxy-5-ene: 3-oxi-4-ene steroids ratios. Normal basal serum cortisol with inadequate cortisol response to ACTH was observed in both patients. Elevated basal plasma renin activity (PRA) and normal basal serum aldosterone (ALDO) were present in both subjects. After ACTH stimulation serum ALDO rose adequately in Case 1 but subnormally in Case 2. Salt restriction resulted in an increase in serum ALDO and no salt loss in Case 1 whereas in Case 2 the substantial rise in PRA and serum ALDO were unable to prevent slight urinary sodium loss. Case 1 had normal basal serum testosterone with subnormal response to hCG stimulation. Incubation of testicular tissue in vitro with [3H]DHEA resulted in large Androstenediol production but diminished testosterone conversion confirming the 3 beta-HSD deficiency in the testes. We conclude that (1) absence of gynecomastia and a female to male gender role change may be observed in the male pubertal presentation of nonsalt-losing 3 beta-HSD deficiency and (2) the different functional behavior of zona glomerulosa in our patients suggests the presence of variable degrees of 3 beta-HSD deficiency in the zona glomerulosa of the nonsalt-losing form.

[Spinal cord involvement in Burkitt-type lymphoma: report of a case]. / Comprometimento medular por linfoma tipo Burkitt: relato de um caso.

Case report of Burkitt's type lymphoma with involvement of the spinal cord in a three years-old child. An epidural tumoral mass (T11-L1) was removed surgically (Fig. 2), and clinical conditions improved for a short period of time (1 and 1/2 months) after which symptoms reappeared. At this occasion a computerized tomography showed a tumoral mass occupying the spinal canal with high density at the L2 level. The patient died 6 months after the beginning of the disease. General considerations are made on Burkitt's lymphoma.

[Fibromyxosarcoma in a child; report of a case]. / Fibromixosarcoma em criança; registro de um caso.

The case of a six-year old boy's with intracranial hypertension and cranial deformities is reported. Radiological examination showed signs of intracranial hypertension and a large osteolitic area in the left posterior parietal region. Cerebral cintilography showed many abnormal captation areas. Pneumoencephalography showed deformation of the ventricular system without dilatation. Angiographic study gave images of tumoral compression by meningitic processes. Craniotomy in the osteolytic area showed an infiltrating tumoration between dura and piamater, reaching frontal, temporal and bilateral parietal areas. Histopathological examination confirmed the diagnostic of fibromixosarcoma.

[Hemangioblastoma of supra-tentorial location]. / Hemangioblastoma de localização supra-tentorial

A case of hemangioblastoma with supra-tentorial localization is reported. General considerations are made.