A Case of X-linked Agammaglobulinemia with Delayed Growth / 대한내분비학회지

In 1980, the clinical syndrome of X-linked agammaglobulinemia and isolated growth hormone defieiency (XLA/IGHD) was first described by Fleisher. We report here 25-year old man with isolated growth hormone deficiency and X-linked agammaglobulinemia. His height was below the third percentile. He had recurrent sinopulmonary infection, lacked circulating B lympocytes and had deficient growth hormone.

Two Cases of Aplastic Anemia Following Propylthiouracil / 대한내분비학회지

Aplastic anemia is characterized by a failure of blood cell production resulting in varying degrees of pancytopenia with a markedly hypocellular bone marrow. Most cases of aplastic anemia are acquired, but the disease may also occur as the result of inherited abnormalities. In 50-65% of cases, however, the etiology is unknown. For acquired forms of aplastic anemia, a variety of causative factors, including radiation, viruses, chemicals and drugs, have been implicated. Antithyroid drugs(Carbimazole, Methimazole, Propylthiouracil) are usually listed among agents associated with the development of agranulocytosis, but aplastic anemia rarely follows their use. The first case of aplastic anemia followmg propylthiouracil was reported by Marte~lo et al. in 1967 and the second case was by Aksoy and Erdem in 1968. Recently, we experienced two cases of aplastic anemia following propylthiouracil therapy due to Graves disease, so we report here these cases with literature review.

A Case of Adrenocortical Carcinoma with Remarkably High Concentrations of 11-dexycortisol / 대한내분비학회지

The adrenocartical carcinoma is a rare tumor with an estimated incidence of 1 case per 1,700,000 population. Despite its rarity, a large number of investigators have studied this neoplasm for the following two reasons. The First is the occasional difficulty of differentiation between careinoma and adenoma at the time of initial surgery, even by histopathologic examination. The other is its unique feature of corticosteroidogenesis. Steroid metabolism of adrenocortieal carcinoma is characterized by its low efficiency of steroid production due to deficiency of steroidogenic enzyme. The deficieney of 11 B-hydroxylase has been indieated in case of adrenoeortical carcinoma by several investigators. In this study, the serum level of cortisol was within normal range, but the serum level of 11-deoxycortisol was 50 times higher than normal. After the removal of tumor, the serum level of ll-deoxycortisol was markedly decm. In conclusion, the results from the this case suggest that measurement of serum 11-deoxy- cortisol may be a useful tool in the diagnosis and follow-up of adrenocortical carcinoma.

A Case of Polygrandular Automune type II syndrome associated empty sella / 대한내분비학회지

The polyglandular autoimmune(PGA) syndrome designate as the dysfimction of endocrine and nonendocrine systems involving two or more organs on the basis of an autoimmune mechanism. There are 3 types of PGA syndrome and their etiology or pathogenesis is still not complete by understood. Type I PGA is present in the patients who have at least two of the triad of Addison's disease, hypopacathyroidism, and chronic mucocutaneous candidiasis. Type II PGA is present in the those who have Addisons disease with autoimmune thyroid disease and/or insulin dependent diabetes mellitus, but who do not have hypoparathyroidism or candidiasis. Type III PGA is present in the one who have autoimmune thyroid disease, without Addisons disease, but with another autoimmune disease report a case of autoimmune polyglandular syndrome type II in a seventy-three years old female patient who had primary adrenal insufficiency, primary hypothyroidism, and empty sella, pulmonary tuberculosis.

Two Cases of Cushing's Disease Due to Large Pituitary ACTH Secreting Tumor / 대한내분비학회지

Cushing's syndrome that is caused by an adenoma of the corticotrape cells of the anterior pituitay or, rarely, by couticotrope hyperplasia is refered to as Cushing's disease. Cushings disease is usually characterized by chronic, moderate hypersecretion of ACTH and other POMC derived peptide. Most patients have ACTH-secreting anterior pituitary corticotrope microadenomas, but a small minority have a pituitary macroadenoma. We recently experenced two cases of Cushings disease due to pituitary macroadenoma. and report this cases with review of literatures.

Clinical Characteristics in Korean Patients with Insulin Receptor Antibody Positive Acanthosis Nigricans / 대한내분비학회지

BACKGROUND: Insulin resistance syndrome shows extreme insulin resistance and is associated with acanthosis nigricans. We can differentiate it into type A insulin resistance that has insulin receptor defect, and type B insulin resistance due to insulin receptor autoantibody. Type B insulin resistance was firstly described by Kahn in 1976. It was often found in adult female and showed autoimmune characteristics. As clinical characteristics, there are hyperglycemia, hypoglycemia, hyperinsulinemia, extreme insulin resistance and acanthosis nigricans. METHODS: We investigated 17 insulin receptor autoantibody positive cases and 8 cases of normal control who had visited Wonju Christian Hospital from October 1994 to December 1995. Among insulin receptor autoantibody positive subject, male was 4 cases and female 13 cases. Their mean age was 42.2. We compared patients who had insulin receptor antibody positive acanthosis nigricans(IRA) with normal controls. IRA patients were 6 cases(35.3%) of nomal glucose tolerance, 11 cases(64.7%) of abnormal glucose tolerance including overt diabetes mellitus. RESULTS: The 11 cases(64.7%) among IRA patrents were obese and 13 cases(76.5%) had hyperininsulinemia. In IRA patients, mean serum insulin concentration during oral glucose tolerance test was 202.1mU/mL and it was greater than 46.3 of normal controls. Insulin sensitivity in 1.79mg/L * mM * xmU * min normal controls was higher than 0.74mg/L * mM * min of IRA patients. CONCLUSION: IRA patients showed abnormal glucose tolerance including overt diabetes millitus, severe insulin resistance, hyperinsulinemia and obesity.

A Case of Neurofibromatosis with Bilateral Pheochromocytoma / 대한내분비학회지

Pheochromocytoma is originated from chromaffin cell of sympathetic nervous system and associated with other disease, such as neurofibromatosis, duodenal carcinoid, medullary thyroid cancer and parathyroid adenoma. Especially, pheochromocytoma is developed more than 50% in neurofibromatosis associated with hypertension. In such cases, several clinical features documented as more frequent bilateral phochromocytoma, more associated with other neuroendocrine tumors and thus more poor prognosis. We can observe the sustained hypertension despite of surgical resection of tumors in pheochromocytoma cases. One of the possible reason of post operative sustained hypertension is the pheochromocytoma originated from minor organ of Zukerkandl that was not resected during operation. Untreated or delayed treated cases with pheochromocytoma were often expired by complication of hypertension such as cerebrovascular hemorrhage, myocardial infarction, etc. Thus, in neurofibromatosis with hypertension, screening of pheochromocytorna is very important for the early detection of tumor and more favorable prognosis. Recently, We experienced a case of neurofibromatosis associated with bilateral pheochromocy-toma expired by cerebral hemorrhage during operation, so we report the case with literature review.

A Case of Piouitary Hyperplasia with Retardation due to Primary Hypothyroidism / 대한내분비학회지

Primary hypothyroidism can result in reactive enlargement of the pituitary gland which is indistinguishable from primary pituitary lesions in clinical presentation and on magnetic resonance imaging. A 17-year-old girl came to the hospital due to short stature, general weakness and galac-torrhea. The magnetic resonance imaging (MRI) study showed pitutary enlargement. The hormone study showed hyperprolactinemia, decreased basal growth hormone level and primary hypothyroi-dism. By thyroid replacement therapy only, mass was successfully regressed on follow up MRI after 4 months, and growth acceleration could be achieved.

A Case of Pituitary Metastasis of Lung Presenting as Diabetes Insipidus / 대한내분비학회지

This is a case report of a 61 years old man with suprasellar and pituitary metastasis from bronchogenic adenocarcinoma who developed polyuria and polydipsia. The clinical diagnosis has been made by bronchoscopy with washing cytology, biopsy of cervical lymph node, and brain MRI scan. Brain MRI scan showed metastatic tumor in the suprasellar area and pituitary gland with invasion of pituitary stalk. Light microscopic findings revealed adenocarcinoma in bronchoscopic washing cytology, and metastatic adenocarcinoma in the cervical lymph node. The combined pituitary stimulation test showed decreased reserve capacity of anterior pituitary hormones. And the water deprivation test also showed complete central diabetes inspidus. We report a case of suprasellar and pituitary metastasis from bronchogenic adenocarcinoma with a review of the literature.

A Case of Takaysu Arteritis Associated with Complete Obstruction of Descending Thoracic Aorta and Stenosis of the Right Coronary Artery

Takaysu arteritis is a systemic disease characterized by stenosis or obstruction of aorta and its branches. Its etiology is unknown but clinical and serologic data suggest autoimmune process. Coronary artery involvement has been uncommon, but potentially fatal complication of Takayasu arteritis. A 41-year old female patients was presented with exertional dyspnea and anterioi chest pain of 2 week duration. Systolic bruit was heard at the both middle portion of internal carotid artery areas. Both radial arteries were palpated well but both femoral, popliteal and doralis pedis arteries were palpated weakly. Aortogram showed complete obstruction of descending thoracic aorta and collateral circulation of internal mammary artery. Coronary angiogram showed 80% stenosis at the middle portion of the right coronary artery. Calcium channel blocker and antiplatelet agent were prescribed. And her clinical symptom improved.

Two Cases of Graves Disease Associated The Empty Sella Syndrome / 대한내분비학회지

The empty sella syndrome is characterized by obesity, frequent pregnancy, headache and high blood pressure, but its exact cause remains unknown. Usually the incomplete diaphragmatic sella has been considered as the cause of the empty sella syndrome, but some authors recently have suggested that the antipituitary antibody way be related to development of pituitary atrophy and the pituitary empty sella syndrome, and thus it may be clinically useful as screening test for the empty sella syndrome. We experienced two empty sella syndromes associated Graves disease and applied the antipituitary antibody as the diagnostic tool of the empty sella syndrome. But none of this two patients had antipituitary antibody and we report these cases with reviews of literatures.

A Case of Turner Syndrome Associated with Autoimmune Thyroiditis and Empty Sella / 대한내분비학회지

No abstract available.

A Case of Autoimmune Hypoglycemia Due to Insulin Receptor Antibody Associated with Empty Sella Syndrome / 대한내분비학회지

No abstract available.

Heel Pain in Behcet's Disease / 대한류마티스학회지

OBJECTIVES: To evaluate the clinical significance of heel pain, a frequently associated enthesopathy in Behcet's disease and to evaluate the association with seronegative spondyloarthropathy. METHODS: 15 Behcet's disease patients diagnosed by International Study Group for Behcet's disease criteria with arthritis were studied prospectively in the period of 1994. 3. 1-1995. 3. 31. Modified New York criteria was adopted for the diagnosis of ankylosing spondylitis. The patients were grouped into two by the presence of heel pain which was documented as tenderness on heel. RESULTS: There were 6 patients in the heel pain group and 9 patients in the non-heel pain group. Clinical characteristics were not significantly different between the two groups. Ankylosing sponaylitis was not associated in either group. ESR was higher with the value of 41.2mm/hr in heel pain group than 25.7mm/hr in non-heel pain group but it was not significant. In heel pam group, one patient showed HLA-B27 positivity, one patient showed erosive bone cha. nge, and one patient showed sacroiliitis but non-heel pain group showed no HLA positivity or bony changes. CONCLUSIONS: We find that subset of Behcet's disease patients with heel pain showed tendency to have higher inflammatory activity, erosive bone change, sacroilitis and HLA B-27 association, thus should be classified as seronegative spondyloarthropathy but seems to be different category from ankylosing spondylitis. These observations should be conducted in a large number of patients to establish the clinical value.