Kallmann's syndrome is defined as the combination of hypogonadotropic hypogonadism and anosmia/hyposmia. The syndrome is a result of defect in the embryonic migratory pathway of gonadotropin-releasing hormone, which synthesizes neurons and olfactory axons. The hypogonadotropic hypogonadism results due to absence of or incomplete pubertal development and may be associated with anosmia, hyposmia, midline defect(color blindness, cleft-lip, cleft-palate, unilateral renal agenesis, sensorineural deafness), cryptorchidism and skeletal anomaly. Till date in Korea, few cases of Kallmann's syndrome have been reported but there are no available reports on cases of Kallmann's syndrome with unilateral renal aplasia and diabetes mellitus. We handled a case of Kallmann's syndrome associated with unilateral renal agenesis and diabetes mellitus. In the current work, we present a peculiar case as afore mentioned with the review of related literature.
Axons ; Blindness ; Cryptorchidism ; Diabetes Mellitus* ; Gonadotropin-Releasing Hormone ; Hypogonadism ; Kallmann Syndrome* ; Korea ; Male ; Neurons ; Olfaction Disorders

We hereby report a case of a 62-year-old male patient who was misdiagnosed with adrenal insufficiency during the course of protein-losing enteropathy caused by superior mesenteric arterial thrombosis. The patient was suspected to have adrenal insufficiency due to hyponatremia and severe weakness. The cortisol responses to the initial challenge of 250microgram ACTH were inadequate (maximum serum cortisol level after ACTH challenge was 10.9microgram/dL), while the serum albumin concentration was 1.9g/dL. Subsequently, intravenous steroid therapy was given to the patient. However, after bowel resection, the serum albumin level increased to 3.4g/dL and the cortisol response to the follow-up rapid ACTH stimulation was completely normal. Accordingly, we discontinued steroid replacement and discharged the patient without any problem. In conclusion, measuring total serum cortisol in a patient with hypo-pro-teinemia may lead to misdiagnosis of adrenal insufficiency. In such cases, caution should be exercised in interpreting the results in terms of total serum cortisol level or measurement of serum free cortisol levels should be considered.
Adrenal Insufficiency ; Adrenocorticotropic Hormone* ; Diagnostic Errors ; Follow-Up Studies ; Humans ; Hydrocortisone* ; Hyponatremia ; Male ; Middle Aged ; Protein-Losing Enteropathies* ; Serum Albumin ; Thrombosis

Primary squamous cell carcinoma of the thyroid gland is an extremely rare case to observe and represents less than 1% in all the primary thyroid malignancies. Normally, squamous epithelium is absent in the thyroid gland and presently; its origin is believed to arise from metaplasia of follicular epithelium. Cancer has very aggressive clinical behavior and a very poor prognosis with survival rates of less than 1 year. The best chances of survival have been achieved with complete resection followed by postoperative radiotherapy. Recently, we came across a case of 80-year-old woman with primary squamous cell cacinoma of the thyroid gland present in the background of Hashimoto's thyroiditis. The patient had swelling in the anterior neck portion from the past 20 days. On physical examinaton, 3x3cm2 hard and fixed ill defined mass was detected in the right lobe of thyroid. Repeated fine needle aspiration biopsy of the thyroid revealed the presence of carcinoma. Apparently, Palliative thyroidectomy was performed after 3 months of diagnosis. During operation, the tumor was revealed as a mass of 100mm in diameter and infiltrated the surrounding muscles, trachea and other soft tissue in the neck. After the operation, the patient's condition deteriorated and ultimately after 5 months of her initial visit, she died due to respiratory failure.
Aged, 80 and over ; Biopsy ; Biopsy, Fine-Needle ; Carcinoma, Squamous Cell* ; Diagnosis ; Epithelium ; Female ; Humans ; Metaplasia ; Muscles ; Neck ; Prognosis ; Radiotherapy ; Respiratory Insufficiency ; Survival Rate ; Thyroid Gland* ; Thyroidectomy ; Thyroiditis ; Trachea

Peripheral eosinophilia is perpetually associated with many disease conditions like asthma, parasitic disease, IL-2 therapy, hypereosinophilic syndrome and eosinophilia/myalgia syndrome. Furthermore, peripheral eosinophilia may also be linked with Graves' disease, which is induced by thyroid-stimulating anti-TSH receptor antibodies and is related to type 2 helper T cell(Th2) predominant condition that is dependent on humoral immunity. In some of the cases of Graves' disease, thyrotoxicosis may induce peripheral eosinophilia associated with relative cortisol deficiency. In our present study, we present a case of two patients who were suffering from Graves' disease without any thyrotoxic symptoms and exhibited increased levels of peripheral eosinophil count. But, the count was observed to decreas in euthyroid state.
Antibodies ; Asthma ; Eosinophilia* ; Eosinophils ; Graves Disease ; Humans ; Hydrocortisone ; Hypereosinophilic Syndrome ; Hyperthyroidism* ; Immunity, Humoral ; Interleukin-2 ; Parasitic Diseases ; Thyrotoxicosis

Multiple endocrine neoplasia type 1(MEN 1) is an autosomal dominantly inherited syndrome, characterized by the combined occurrence of tumors of the parathyroid glands, endocrine pancreas, and anterior pituitary gland. The MENIN gene, which is a kind of tumor suppressor gene, is located at the chromosomal locus 11q13. It consists of one untranslated exon and nine exons encoding the menin protein. We report a case of a 22-yearss-old woman with MEN type 1, who was proven to have a mutation in the MENIN gene. The patient was admitted because of repeated hypoglycemia. The fasting plasma glucose level was 32mg/dL. Seventy two hours fasting test showed an the insulin/glucose ratio as 0.33. Endoscopic ultrasonography detected multiple masses on the pancreas. The arterial -stimulated venous sampling(ASVS) with calcium showed sudden step up of insulin at the head and tail portions of the pancreas. The sellar MRI showed a pituitary mass that produced prolactin. Instead of a pathologic diagnosis from operational specimen, the genetic analysis revealed a mutation in the MENIN 1 gene(exon 2, 200~201insAGCCC).
Blood Glucose ; Calcium ; Diagnosis ; Endosonography ; Exons ; Fasting ; Female ; Genes, Tumor Suppressor ; Head ; Humans ; Hyperparathyroidism ; Hypoglycemia ; Insulin ; Insulinoma ; Islets of Langerhans ; Magnetic Resonance Imaging ; Male ; Multiple Endocrine Neoplasia Type 1* ; Multiple Endocrine Neoplasia* ; Pancreas ; Parathyroid Glands ; Pituitary Gland, Anterior ; Prolactin ; Prolactinoma

Multiple endocrine neoplasia I(MEN I) is a genetic disorder that consists of neoplasia of neuroendocrine type in the parathyroid glands, in the islets of Langerhans in the pancreas, and in the anterior pituitary gland. Primary hyperparathyroidism is the most common feature and occurs in approximately 95% of MEN I patients. Pancreatic islet cell tumors occur in 40% of MEN I patients. Most of these tumors produce excessive amounts of hormones, such as gastrin, insulin, glucagon and vasoactive intestinal polypeptide(VIP). VIP-producing pancreatic tumors(VIPoma) associated with MEN I are rare and so far only one has been reported in Korea. Recently, we came across a case of MEN I, associated VIPoma presented persistent hypercalcemia after a parathyroidectomy. A 70 year old man had suffered from large amount of watery diarrhea, severe general weakness and paralysis of lower limbs for 3 months which suggests symptoms of hypercalcemia. Before the patient visited our hospital, he underwent subtotal parathyroidectomy due to hyperparathyroidism. Even though he was operation, there was no subsidization of the symptoms and abnormal findings of blood chemistry such as hypercalcemia, hypocalemia were remained unchanged. However, the parathyroid hormone level was still within normal limits. Abdominal computerized tomography scan demonstrated a mass of 2.5cm diameter in tail of the pancreas. As serum level of VIP hormone was also elevated, distal pancreatectomy was carried out to performed. There was improvement in the symptoms towards the normal condition and the level of biochemical parameters such as serum potassium, calcium and VIP, were also within the normal limits. In a direct sequence analysis, GAC-->CAT(Asp-->His) point mutation, at codon 383 of exon 9 of the MEN I gene was identified in both the patient and his son. The authors report a rare case of VIPoma associated with MEN I with review of literature on MEN I.
Aged ; Calcium ; Chemistry ; Codon ; Diarrhea ; Exons ; Gastrins ; Germ-Line Mutation ; Glucagon ; Humans ; Hypercalcemia ; Hyperparathyroidism ; Hyperparathyroidism, Primary ; Insulin ; Islets of Langerhans ; Korea ; Lower Extremity ; Multiple Endocrine Neoplasia Type 1 ; Multiple Endocrine Neoplasia* ; Pancreas ; Pancreatectomy ; Paralysis ; Parathyroid Glands ; Parathyroid Hormone ; Parathyroidectomy ; Pituitary Gland, Anterior ; Point Mutation ; Potassium ; Sequence Analysis ; Vipoma*

BACKGROUND: Osteoprotegerin(OPG) is a recently identified cytokine, which acts as a decoy receptor for the receptor activator of NF-B ligand(RANKL). OPG has been shown to be an important inhibitor of osteoclastogenesis and arterial calcification in animal models. Recently, OPG has been proposed as a link molecule between osteoporosis and arterial calcification. However, the relationship between circulating OPG levels and cardiovascular disease in human populations is unclear. Thus, the aim of this study was to investigate the relationship between circulating OPG levels and cardiovascular risk factors in women. METHODS: The subjects were 286 women, with a mean age of 51.5 yr. The blood pressure, body mass index(BMI) and waist to hip ratio(WHR) were examined and the serum concentrations of OPG determined by ELISA. The fasting glucose levels, serum lipid profiles and follicle stimulating hormone (FSH) were measured by standard methods. RESULTS: A significant association was observed between the serum OPG levels, age and WHR(r=0.134, P<0.05). Also, the serum OPG levels were significantly correlated with the serum total cholesterol and low density lipoprotein cholesterol levels(r=0.175, P<0.01; r=0.176, P<0.01). Conversely, there was a nonsignificant relationship between the serum OPG levels, blood pressure and fasting glucose levels. The mean serum OPG levels were found to be about 11% greater in post-than premenopausal women(mean+/-SD, 1358.5+/-380.0 vs. 1228.8+/-407.7pg/mL, respectively(P<0.001). There was a significant association between the serum OPG and serum FSH levels(r=0.176, P<0.01). CONCLUSION: In conclusion, our data show that the levels of circulating OPG are partially associated with the cardiovascular risk factors and female hormonal status in healthy women. These data suggest that OPG may be an important paracrine factor of cardiovascular disease in human female populations.
Blood Pressure ; Cardiovascular Diseases ; Cholesterol ; Cholesterol, LDL ; Enzyme-Linked Immunosorbent Assay ; Fasting ; Female ; Follicle Stimulating Hormone ; Glucose ; Hip ; Humans ; Models, Animal ; Osteoporosis ; Osteoprotegerin* ; Risk Factors*

BACKGROUND: The loss of bone mass is usually detected after bone marrow transplantation(BMT), particularly during the early post-transplant period. We recently reported that enhanced bone resorption following BMT was related to both the steroid dose and increase in IL-6. It was also suggested damage of the marrow microenvironment due to myeloablation and changes in bone growth factors contribute to post-BMT bone loss. Recently, the interactions of OPG and RANKL have been reported to be crucial in osteoclastogenesis and therefore in bone homeostasis. There are few data on the changes in RANKL/OPG status during the post-BMT period. This study investigated the changes in the levels of RANKL and OPG during the post-BMT period, and also assessed whether the changes in these cytokine levels actually influenced bone turnover and post-BMT bone loss. METHODS: We prospectively investigated 110 patients undergoing allogenic BMT and analyzed 36 (32.4+/-1.3 years, 17 men and 19 women) where DEXA was performed before and 1 year after the BMT. The serum bone turnover marker levels were measured before and 1, 2, 3, 4 and 12 wks, 6 Ms, and 1 yr after the BMT. The serum sRANKL and OPG levels were measured in all patients before and 1, 3 and 12 wks after the BMT. RESULTS: The mean bone losses in the lumbar spine and total proximal femur, which were calculated as the percent change from the baseline to 1 yr, were 5.2(P<0.01) and 11.6%(P<0.01), respectively. The mean serum ICTP, a bone resorption marker, increased progressively until 3 and 6 months after the BMT, but decreased gradually thereafter, reaching the basal values after 1 year. The serum osteocalcin levels decreased progressively until 3 wks after the BMT, then increased transiently at 3 and 6 Ms, but returned to the basal level by 1 yr. The serum sRANKL and OPG levels had increased significantly by weeks 1 and 3 compared with the baseline(P<0.01), but decreased at 3 months. The sRANKL/OPG ratio increased progressively until 3 weeks, but then decreased to the basal values. During the observation period, the percent changes from the baseline in the serum RANKL levels and RANKL/OPG ratio showed positive correlations with the percent changes from the baseline serum ICTP levels. Patients with higher RANKL levels and RANKL/OPG ratio during the early post-BMT period lost more bone mass at the lumbar spine. CONCLUSION: In conclusion, dynamic changes in the sRANKL and OPG levels were observed during the immediate post-BMT period, which were related to a decrease in bone formation and loss of L-spine BMD during the year following the BMT. Taken together, these results suggest that increased sRANKL levels and sRANKL/OPG ratios could be involved in a negative balance in bone metabolism following BMT.
Bone Density ; Bone Development ; Bone Marrow Transplantation* ; Bone Marrow* ; Bone Resorption ; Femur ; Homeostasis ; Humans ; Interleukin-6 ; Male ; Metabolism* ; Osteocalcin ; Osteogenesis ; Osteoporosis ; Prospective Studies ; Spine

BACKGROUND: The aim of this study was to examine the association between the common polymorphisms of the adiponectin gene(ACDC) and the intima-media thickness(IMT) of the common carotid arteries in type 2 diabetic patients. METHODS: The B mode ultrasound examination of carotid artery was performed on 133 type 2 diabetic patients. The carotid IMT was calculated using the Intimascope computer program. The SNP45 and SNP276 of the ACDC were examined. RESULTS: There was no significant difference in the carotid IMT among the SNP45 genotypes(0.66+/-0.18mm for TT, 0.71+/-0.12mm for TG and 0.64+/-0.15mm for GG, P=NS). Subjects carrying the SNP276 GG genotype had a markedly lower serum adiponectin concentration than those carrying the TT genotype(3.35+/-2.00microgram/mL vs. 4.98+/-2.24microgram/mL, P=0.029) The carotid IMT was significantly higher in patients with the SNP276 GG genotype than those with the TT genotype (0.70+/-0.17mm vs. 0.59+/-0.13mm, P=0.032). Patients with the +45GG/+276GG genotype combination showed significantly higher mean carotid IMT than the other genotype combinations(0.78+/-0.09mm vs. 0.71+/-0.15mm, P=0.013) CONCLUSIONS: These results suggest that the adiponectin gene, SNP276 is associated with the carotid IMT in type 2 diabetic patients. Further studies are will be needed to confirm these genotypephenotype associations.
Adiponectin* ; Carotid Arteries* ; Carotid Artery, Common ; Genotype ; Humans ; Ultrasonography

BACKGROUND: Computed tomography(CT) is currently considered as the initial imaging procedure of choice for the localization of pheochromocytomas in most of the cases. 131I-or 123I-Metaiodobenzylguanidine scintigraphy(MIBG scan) was proven to be a highly specific tool for the detection of adrenal and extra-adrenal pheochromocytomas, but was less sensitive than CT. The present study is aimed to evaluate the usefulness of a MIBG scan in diagnosis and localization of pheochromocytoma when compared to CT. METHODS: We retrospectively evaluated 27 patients who underwent a MIBG scan for a pheochromocytoma at the Seoul National University Hospital from the year 2000 and 2002. According to the pathological and clinical findings, in 16 the patients pheochromocytoma was confirmed to be positive and the rest 11 of the patients were excluded from the study. RESULTS: Pheochromocytomas was identified in 16 patients. Eleven of them were localized in adrenal gland and 5 were extra-adrenal lesions. The sensitivity to MIBG scan in adrenal lesions and extra-adrenal lesions, was 72%(8/11) and 40%(2/5) respectively. In our study, the overall sensitivity to MIBG scan was 62%(10/16), and overall specificity was 90.9%(10/11). By CT four were identified to have equivocal biochemical abnormalities, but were definite and extraadrenal tumors by MIBG scan showed abnormal uptakes in two of them. CONCLUSION: The MIBG scan was especially useful in 2 of the 27 patients but we had no experienced about the additional benefits of a MIBG scan in the other 25 cases. Our results reveal that a MIBG scan should be performed carefully for the diagnosis and localization of a pheochromocytoma, while considering cost and time of operation.
3-Iodobenzylguanidine* ; Adrenal Glands ; Diagnosis ; Humans ; Pheochromocytoma* ; Retrospective Studies ; Sensitivity and Specificity ; Seoul