Growth Hormone Treatment in Prader-Willi Syndrome / 대한내분비학회지

BACKGROUND: Prader-Willi syndrome (PWS) is a congenital disorder, which is clinically characterized by a short stature, muscular hypotonia, hypogonadism, mental retardation and hyperphagia, leading to early childhood obesity. Impaired growth hormone (GH) secretion, hypogonadism, and obesity are common in patients with PWS. The purpose of this study was to find the effects of growth hormone treatment in patients with PWS. METHODS: Six patients with PWS confirmed by a genetic study were recruited, and treated with growth hormone(Eutropin(R))(0.8-1 IU/kg/week) divided into five or seven day doses per week for six months. The heights and weights of the subjects were evaluated. GH status were evaluated using the serum insulin-like growth factor (IGF)-I level, the L-dopa test, and insulin-induced hypoglycemia tess. Glucose metabolism was evaluated using the random serum glucose and HbA1c levels. RESULTS: GH was found to be deficient in 2 out of 6 subjects by the insulin test, in 3 out of 6 by the IGF-I level, and in 5 out of in 5 by the L-dopa test. After six months of GH treatment, the height percentile was increased and weight percentile decreased. The serum glucose and HbA1c levels remained unchanged. CONCLUSION: Six months of GH treatment in patients with PWS improved the height and degree of obesity. This study has shown the beneficial effects of GH treatment for patients with PWS, and without significant side effects.

A Case of Familial Medullary Thyroid Carcinoma with a E768D Mutation in RET Proto-Oncogene / 대한내분비학회지

A medullary thyroid carcinoma, a neoplasm of parafollicular C cell origin, occurs as a sporadic or hereditary disease. A hereditary medullary thyroid carcinoma is an autosomal dominantly inherited disease, which is composed of multiple endocrine neoplasia 2A and 2B, with a familial medullary thyroid carcinoma. Germline mutations of the RET gene are the underlying cause of the majority of hereditary medullary carcinomas. Here, the case of a 42 years-old man with a familial medullary thyroid carcinoma, confirmed by the detection of a RET proto-oncogene mutation at exon 13 on codon 768 from a GAG(Glu) to a GAT(Asp), is described. The patient underwent a total thyroidectomy and modified radical neck dissection. His sister was found to have the same mutant gene.

A Case Report of von Hippel-Lindau Disease Manifested in a Monozygous Twin / 대한내분비학회지

Von Hippel-Lindau (VHL) disease is an autosomal dominant disease, which forms hypervascular tumors in multiple organs, such as hemangioblastomas in the retina and central nervous system, renal cell carcinomas, pheochromocytomas and cysts in various organs. Recent advances in gene testing have made it possible to screen family members for VHL disease. We experienced a 28 year-old male, who was diagnosed with bilateral pheochromocytomas through a family screening test when his elder monozygous twin brother was diagnosed with a pheochromocytoma. He received no treatment until December, 2004, when he visited the Emergency room due to a headache. A hemangioma of the cerebellum was seen in the brain MR study, leading to the diagnosis of type 2A VHL disease. An abdominal CT scan revealed no lesions of the pancreas or kidney. There was no evidence of a hemangioma in the retinal scan. The subsequent gene testing showed a germline mutation in exon 3 codon 167 of the VHL gene. The mother of the patient was revealed to have the same mutation of the VHL gene, but the elder brother of the patient did not.

The Effect of Treatment Modalities on Survival Rates of Patients with Anaplastic Thyroid Carcinoma / 대한내분비학회지

BACKGROUND: Anaplastic thyroid carcinoma represents 2% to 5% of all thyroid cancers and it is one of the most aggressive human cancers. Local extension at the time of diagnosis and distant metastases are almost always the rule. Its lethality is evidenced by a 5-year survival rate of 3.6% and a median survival time of 4 months. We retrospectively reviewed patients with this disease at 4 tertiary referral centers. METHODS: From 1990 to 2003, 19 cases(9 men and 10 women, mean age: 65.1+/-7.1 years) of anaplastic thyroid carcinoma were reviewed via the medical records. The overall survival rates according to the prognostic factors and the treatment modalities were analyzed. RESULTS: The presenting symptoms included rapidly enlarged neck masses in 16 patients, shortness of breath in 3 patients, hoarseness in 4 patients, dysphagia in 2 patients and chest wall pain in 1 patient. The mean diameter of tumor was 7.2cm. Local extension was seen in all of the cases that had undergone surgery. Distant metastases(lung 6, bone 2, abdominal carcinomatosis 2, brain 1 and mediastinum 1) were seen in 9 patients. Surgical treatment was performed in 10 patients. Radiotherapy was performed in 9 patients and chemotherapy was done in 5 patients; radiotherapy was performed alone in 2 patients, combination chemo-radiotherapy was performed in 3 patients, postoperative radiotherapy was performed in 2 patients and postoperative combination chemo-radiotherapy was performed in 2 patients. 4 patients were treated cons ervatively after the confirmative diagnosis. The overall median survival time was 123 days(range: 23~621 days); the median survival time was 129 days in the treatment group(n=15), and 27 days in the no treatment group (n=4), and significantly higher survival rates were observed for the treated patients(p=0.02). According to the treatment modalities, patients who underwent surgical treatment and postoperative radiotherapy and/or chemotherapy were observed to have significantly higher survival rates than patients in the radiotherapy and/or chemotherapy group(p=0.03), and also than those patients in the surgical treatment only group(p=0.04). CONCLUSION: We found that aggressive surgical treatment and postoperative radiotherapy and/or chemotherapy improved the survival rates of patients with anaplastic thyroid carcinoma even though local invasion and distant metastases was generally observed to occur

Two Cases of Microscopic Polyangiitis / 결핵

Microscopic polyangiitis is a systemic small-vessel vasculitis that is primarily associated with necrotizing glomerulonephritis and pulmonary capillaritis. Lung involvement is characterized by a diffuse alveolar hemorrhage. However, rarely central nervous system involvement has been reported to be occurred with the microscopic polyangiitis. Relapse of microscopic polyangiitis are reported to be more frequent than those of polyarteritis nodosa, often after a reduction or discontinuation of the therapy. We would like to report two patients with microscopic polyangiitis. One presented with clinical manifestations of both lung and central nervous system involvements and the other was a case of recurrence during steroid tapering following the steroid pulse therapy.

A Case of Seronegative Rheumatoid Arthritis with Idiopathic Hypereosinophilic Syndrome / 대한류마티스학회지

The idiopathic hypereosinophilic syndrome (HES) is a disorder marked by the sustained overproduction of eosinophils. The disease is characterized by damage of multiple organ including heart, nerve system, skin and lung due to eosinophilic infiltration and the diagnosis is one of exclusion. Rheumatologic manifestations of HES are infrequent. In about 10~40% of rheumatoid arthritis (RA) patients, persistent eosinophilia is observed. That can be due to the RA itself and is often associated with active disease and extra-articular features. Sometimes, it is attributed to the drug therapy, especially gold and penicillamine. We would like to report a 37-year-old female patient with HES who developed seronegative RA 2 years later.

Effects of Arginine Vasopressin(AVP) Infusion on the Patients with Catecholamine-dependent Septic Shock / 결핵

BACKGROUND: A decreased level of serum arginine vasopressin(AVP) and an increased sensitivity to an exogenous AVP is expected in patients with septic shock who often require a high infusion rate of catecholamines. The goal of the study was to determine whether an exogenous AVP infusion to the patients with septic shock would achieve a significant decrement in infusion rate of catecholamine vasopressors while maintaining hemodynamic stability and adequate urine output. METHODS: Eight patients with septic shock who require a high infusion rate of norepinephrine had received a trial of 4-hour AVP infusion with simultaneous titration of norepinephrine. Hemodynamic parameters and urine output were monitored during the AVP infusion and the monitoring continued up to 4 hours after the AVP infusion had stopped. RESULTS: Mean arterial pressure showed no significant changes during the study period(p=0.197). Norepinephrine infusion rate significantly decreased with concurrent AVP administration(p=0.001). However, beneficial effects had disappeared after the AVP infusion was stopped. In addition, hourly urine output showed no significant changes throughout the trials(p=0.093). CONCLUSION: Concurrent AVP infusion achieved the catecholamine vasopressor sparing effect in the septic shock patients, but there was no evidence of the improvement of renal function. Further study may be indicated to determine whether AVP infusion would provide an organ-protective effect to the septic shock patients.