Aldosterone-Producing Adenoma Diagnosed by Selective Adrenal Venous Catheterization / 대한내분비학회지

Primary aldosteronism, not a common cause of high blood pressure, is a syndrome which results from excessively secreted aldosterone from adrenal gland and it accounts for 0.05-2.2% of unselected hypertension. In this case the lesion was not visualized on routine abdominal computed tomographic scan due to its small size. Therefore the selective adrenal venous catherterization & venous sampling was done. As there is some difficulty of sampling from Rt. adrenal vein, the method of measuring aldosterone vs. cortisol ratio of Lt. adrenal vein and inferior vena cava was used to localize the aldosterone-producing adenoma. Clinical symptoms normalized and laboratory data returned to normal range after the surgical adrenalectomy.

Glucokinase gene mutation in non-insulin-dependent diabetes mellitus (NIDDM), and secondary diabetes in Koreans / 대한내과학회지

OBJECTIVES: Mutations in the glucokinase (GCK) gene are considered a possible cause of maturity-onset diabetes of the young. The purpose of this study was to evaluate the contribution of this gene to the development of non insulin dependent diabetes mellitus (NIDDM), gestational diabetes mellitus (GDM) and post-renal transplantation diabetes mellitus (PTDM). METHOD: Identification of GCK mutation was attempted on 39 NIDDM patients, 2 GDM patients and 58 selected renal allograft recipients with PTDM and 45 normal controls. The exons in the GCK gene were examined by polymerase chain reaction (PCR), followed by analysis of single-stranded DNA conformational polymorphism (SSCP). The abnormal bands were also confirmed by DNA sequenc- ing analysis. The exons of affected family members were also investigated for mutations of the GCK gene. RESULTS: Two of the 58 PTDM patients (3.4%) were found to have GCK mutations. One had the mutation on exon 5 and the other on intron 7. One control subject had the mutation on intron 9. The mutation of exon 5 was identified as a substitution of CCT(proline) for CTT (leucine) at codon 164, which has not ever reported before. The family members of the PTDM patient with mutation of exon 5 were analyzed by PCR followed by SSCP, and two of them revealed the same mutation. The abnormal band on the SSCP analysis of exon 7 was identified as the insertion of base C/T at the 39th nucleotide in intron 7. Two family members of this patients also had same band on SSCP. The one mutation of 45 normal controls was CT located at the 8th nucleotide in intron 9, which was a common polymorphism. CONCLUSON: We found GCK mutations in subjects with PTDM and we speculate that these mutations may be one of the contributing cause of PTDM.

A Case of Central Diabetes Insipidus Caused by Metastatin Malignant Lymphoma / 대한내분비학회지

The causes of central diabetes insipidus (CDI) are numerous; some primary cases are idiopathic while most secondary cases are surgically induced or the result of tumor. The frequency of metastatic tumor as a cause of DI is 6% to 20% of cases, Variety of malignancies including breast, lung, colon, prostate cancer, and leukemia/lymphoma have been reported to metastasize to the pituitary, although most patients are asymptomatic. Clinical manifestations of pituitary metastases include anterior pituitary failure, visual disturbance, and extraocular muscle weakness. DI is the most common clinical manifestation of hypothalamic-pituitary axis (HPA) metastases. Anatomical basis far this clinical picture is that most metastases occur in the posterior lobe. We report on a 35-year-old male patient with meningeal involvement of malignant lymphoma that was thought to be associated with DI. Confirmation of primary malignancy was made by biopsy at site of cervical lymph node and tonsil, Pituitary involvement was suspected on brain MRI, and satisfactory symptornatic relief was obtained with vasopressin. Because of the progres-sion of underlying lymphorna that has shown no response to combined anticancer chemotherapy, the patient expired on 60th hospital day.

A Case of Turner's Syndrome with Hypothyroidism and Pericardial Effusion / 대한내분비학회지

Clinical manifestations of hypothyroidism are very various and these degree are related to the severity and duration of the disease. Pericardial effusions, one of the manifestations of hypothy-roidism, were relatively common in the past. However, recently they may not be so frequent representative of hypothyroid subjects. The higher frequency of Hashimotos thyroiditis in Turners syndrome, especially those with an X-isochromosome, compared with the general population is well known. The pathophysiological process of autoimmunity is thought to be linked with the presence of an abnormal X-chromosome. Recently we experienced a case of X-isochromosome Turners syndrome with hypothyroidism and pericardial effusion and report it with reviews of the literatures.