Adrenal nodules in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: regression after adequate hormonal control.

Adrenal nodules have been described in patients with 21-hydroxylase deficiency (21OHD). These nodules are usually considered to be ACTH-dependent, as is the commonly seen diffuse cortical hyperplasia. We evaluated the presence and behavior of adrenal nodules in patients with 21OHD. Based upon hormonal status and treatment compliance, the patients were classified into three categories: poor, regular and good control. Out of the 26 patients, eight had the non-classic, four salt-wasting and 14 simple virilizing forms. All patients underwent initial adrenal morphological studies, either by CT or MRI. Those with nodules were reevaluated after 12 months of adequate replacement therapy. Nodules were found in four of eight untreated patients and two of three patients with poor hormonal control, but not in the 15 patients with regular or good control. Adrenal nodules in these six patients demonstrated a considerable size reduction and even disappearance after adequate replacement therapy, showing that these nodules were ACTH-dependent. Thus, six out of 26 patients with 21OHD presented adrenal nodules, which were more frequent in the untreated or poorly-controlled patients, and all regressed in size after adequate therapy.

No evidence of somatic activating mutations on gonadotropin receptor genes in sex cord stromal tumors.

OBJECTIVE: To search for somatic activating mutations of gonadotropin receptor (FSH-R and LH/chorionic gonadotropin receptor [CG-R]) genes as a cause of sex cord stromal tumors. DESIGN: Molecular studies in human tissue. SETTING: University hospital. SPECIMEN(S): Eight granulosa cell tumors collected from paraffin-embedded tissue, eight Leydig cell tumors, and three thecomas collected from fresh-frozen or paraffin-embedded tissue. INTERVENTION(S): Tumor samples were used for DNA extraction. The entire exon 11 of the LH/CG-R gene and a hot spot for gonadotropin receptor activating mutations on exon 10 of the FSH-R gene were amplified by polymerase chain reaction. The former was analyzed by denaturing gradient gel electrophoresis and automatic direct sequencing, and the latter by automatic direct sequencing. MAIN OUTCOME MEASURE(S): Results of denaturing gradient gel electrophoresis and automatic direct sequencing. RESULT(S): No somatic activating mutation was detected in exon 11 of the LH/CG-R gene in eight Leydig cell tumors and three thecomas. In addition, no mutations were detected in eight granulosa cell tumors in the hot spot for activating mutations in exon 10 of the FSH-R gene. CONCLUSION(S): Somatic activating mutations of gonadotropin receptors seem to play no relevant role in the development of sex cord stromal tumors.

No evidence of the inactivating mutation (C566T) in the follicle-stimulating hormone receptor gene in Brazilian women with premature ovarian failure.

OBJECTIVE: To investigate the presence of FSH receptor gene mutations in women with premature ovarian failure (POF). DESIGN: Clinical and molecular studies. SETTING: Research laboratory in a university setting. PATIENT(S): Fifteen 46,XX women with POF and 42 normal fertile controls. INTERVENTION(S): Exon 7 was amplified and digested with BsmI to screen for the previously described inactivating mutation C566T. Exon 10 was screened for mutations by denaturing gradient gel electrophoresis and direct sequencing. MAIN OUTCOME MEASURE(S): Polymerase chain reaction followed by restriction enzyme analysis, denaturing gradient gel electrophoresis, and direct sequencing. RESULT(S): No inactivating mutations were identified in exons 7 and 10 of the FSH receptor gene in women with familial or sporadic POF. Exon 10 had two polymorphisms, G919A and G2039A, whose allelic frequencies were 46.7% and 56.6%, respectively, in women with POF. The allelic frequency of both polymorphisms was 59.5% in normal fertile controls. CONCLUSION(S): No inactivating mutations in exons 7 and 10 of the FSH receptor gene were identified in Brazilian women with POF. A high frequency of two polymorphisms that are in linkage disequilibrium was found in exon 10 of this gene.

Disseminated histoplasmosis presenting as bilateral adrenal masses.

Histoplasma capsulatum is a universal dimorphic fungus found mainly in soil contaminated with excrement of birds and bats. Bilateral adrenal masses with massive tissue destruction are a rare primary presentation of disseminated histoplasmosis. As it behaves as an opportunistic pathogen there is a higher susceptibility for dissemination on those patients with immunodeficiency or immunosuppression. We report a case in an elderly diabetic patient with bilateral adrenal enlargement, diagnosed as histoplasmosis only after surgical exploration, with symptoms probably occurring at least 60 years after the original infection. She was successfully treated with itraconazole.

[Electrocardiographic changes in pancreatitis]. / Alterações eletrocardiográficas nas pancreatites.

Of 400 patients with acute, chronic or chronic relapsing pancreatitis surveyed in the present study, only 54 had had ECG in their files. Among these, 80% showed ECG alterations, mostly sinus tachycardia and diffuse disturbances of ventricular repolarization. The causes of these alterations are, as yet controversial. Some explanations for these alterations are hypovolemia, sepsis and acute inflammatory state. Other important findings in the patients were bundle branch block, not encountered either before the pancreatic crisis or after its resolution, nor was dielectric effect and lesion current observed in either the acute and chronic forms. The possibility of the presence of previous cardiopathy in patients with high alcoholic intake, Chagas' disease, high blood pressure or diabetes, which are quite likely in these patients, should be recalled as important factors: marked electrolytes disorders were not frequent and did not correlate with ECG findings. The aim of this study is to highlight the importance of ECG during systematic search in the follow-up of patients with pancreatitis, in order to better understand associated cardiac disorders and to improve diagnosis, prevention and treatment.