Diencephalic syndrome is a rare cause of failure to thrive in infancy and early childhood. The syndrome is characterized by profound emaciation with normal appetite, loss of cutaneous adipose tissue, hyperactivity, euphoria, and nystagmus. It commonly occurs in association with chiasmatic and hypothalamic gliomas. It has also been described in association with other histologic types. There is the marked increase of serum growth hormone, which may exhibit an inappropriate, even paradoxical response in stimulation test. A male infant of 12 months of age, showed markedly elevated growth hormone but he had failure to thrive findings. Evenly enhanced round mass was seen at suprasella area in brain CT. Its histological findings was "Desmoplastic infantile ganglioglioma", very rare histologic type. Here we report a case of diencephalic syndrome presented by failure to thrive in association with hypothalamic tumors.
Adipose Tissue ; Appetite ; Brain ; Emaciation ; Euphoria ; Failure to Thrive ; Glioma ; Growth Hormone ; Humans ; Hypothalamic Neoplasms ; Infant ; Male

Ectopic thyroid is an uncommon embryological aberration characterized by the presence of thyroid tissue at a site other than in its usual pretracheal region. Usually it occurs along the path of descent of the developing thyroid primodium from the foramen cecum, commonest being lingual followed by sublingual and in the anterior midline of neck at, or below, the level of the hyoid bone. It is unusal for lingual thyroid to present simultaneously with another ectopic thyroid, so we report a case of 12-year-old girl who had multiple ectopic thyroid glands with goiter and compensated hypothyroidism diagnosed by computerized tomography in lingual and infrahyoid area.
Cecum ; Child ; Female ; Goiter* ; Humans ; Hyoid Bone ; Hypothyroidism* ; Lingual Thyroid ; Neck ; Thyroid Dysgenesis* ; Thyroid Gland

Poland syndrome is characterized by an absent of the pectoralis major muscle, with ipsilateral defect of the upper extremity, usually syndactyly. The incidence of this syndrome has been estimated at 1 per 32,000 persons and more than 400 patients have been described worldwide after Alfred Poland's report. but there was no report of Poland syndrome associated with Diabetic Mellitus in childhood. Recently, we experienced a 14 year-old female patient who showed typical Poland syndrome, a left pectoralis muscle hypoplasia and left synbrachydactyly, associated with Diabetes mellitus complicated by ketoacidosis.
Adolescent ; Diabetes Mellitus ; Diabetic Ketoacidosis* ; Female ; Humans ; Incidence ; Ketosis ; Pectoralis Muscles ; Poland Syndrome* ; Poland* ; Syndactyly ; Upper Extremity

Prader-Willi syndrome is caused by absence of paternal contribution of chromosome region 15q11-q13. PWS is clinically suspected and can be confirmed by laboratory tests. It is accepted that DNA methylation analysis is very useful screening test and FISH with specific probe can be used for deletion detection for PWS. In clinically suspected PWS patients, we conducted two genetic tests, FISH with SNRPN probe and SNRPN expression study with RT-PCR. We found discordance in one patient. This PWS male presented with severe obesity, hypogonadism and typical appearance with the history of neonatal hypotonia and feeding problems. The FISH showed the microdeletion in 15q11-q13 as expected, but the result of SNRPN expression was positive. We reviewed FISH and observed normal cells without deletion. Methylation analysis is not sensitive enough to identify cases of mosaic PWS. So, when the molecular screening is negative, precise clinical examination is essential and other cytogenetic analysis like FISH should be combined.
Cytogenetic Analysis ; DNA Methylation ; Humans ; Hypogonadism ; In Situ Hybridization, Fluorescence* ; Male ; Mass Screening ; Methylation ; Mosaicism* ; Muscle Hypotonia ; Obesity, Morbid ; Prader-Willi Syndrome ; snRNP Core Proteins

The molecular defect of congenital lipoid adrenal hyperplasia has been discovered to be in the transport of cholesterol into mitochondria due to defective regulatory protein called "Steroidogenic Acute Regulatory Protein (StAR)", while the enzyme P450scc itself is normal. This study with EcoRII restriction enzyme aimed at elucidating more conveniently the molecular defect in the StAR gene. The genomic DNAs were extracted from their peripheral blood. We amplified the exon 7, hot spot, of the StAR gene with 1 set of primers by Polymerase Chain Reaction (PCR). Subsequently, a PCR product corresponding to target sequence (~437 bps) from the patient and her father have been sequenced by automatic sequence analyzer. The PCR-RFLP (Restriction Fragment Length Polymorphism) analysis after restriction digestion with EcoRII restriction enzyme was also performed on 12% polyacrylamide gel electrophoresis. The mutation was identified in the exon 7 of the StAR gene, substituting C for T at codon 258, consequently replacing glutamine by stop codon. This mutation alters EcoRII restriction site. In addition, we obtained the good result of PCR-RFLP (Restriction Fragment Length Polymorphism) analysis on 12% polyacrylamide gel electrophoresis. Therefore, the PCR-RFLP (Restriction Fragment Length Polymorphism) analysis with EcoRII restriction enzyme can be easily utilized to screen carrier, diagnose the patient prenatally or postnatally.
Cholesterol ; Codon ; Codon, Terminator ; Digestion ; DNA ; Electrophoresis, Polyacrylamide Gel ; Exons ; Fathers ; Glutamine ; Humans ; Hyperplasia ; Mitochondria ; Molecular Biology* ; Polymerase Chain Reaction

PURPOSE: Recently islets transplantation has been become a hot issue in insulin dependant diabetes mellitus. This study is aimed to review the technical method of islet isolation, pruification, and microencapsulation in animal model and to study the actual ability of transplated islets on controlling hyperglycemia. Finally, we want to know whether hollow fiber model for immunoislation in islet transplantation is effective in diabetic nude mouse. Method: We use 5-6 weeks old Spregue-Dawley rats as donor. After midline incision, collagenase was infused to proximal common bile duct and pancreas was extracted. With HBSS treatment and discontinuous density gradient centrifugation, islets were isolated. From 500-1,000 numbers of islets were transplanted to 6 strepozotocin-induced nude mice via upper pole of spleen and serial blood glucose level of nude mice were checked from conjunctival veins. Also, we examined transplanted-islets in spleen histologically with light and electron microscopy. Finally, after impregnation of 500 to 1,000 numbers of islets to 2-4 hollow fibers(Amicon R, H1P30-43 type, M.W:30,000) for immunoisolation, we inserted hollow fiber into peritoneum of 3 streptozotocin-induced nude mice and checked blood glucose level serially. Results: 1) Isolation of islets from rats was done successfully and we could calculate the number of islets under microscopy. 2) In 3 diabetic nude mice without islet transplantation(control group), all of them revealed hyperglycemia above 200mg/dL after 5days from strptozotocin injection. After then, blood glucose level was ranged from 300 to 500mg/dL persistently and all of them were died after 120 days. 3) We could observe the transplabted-islets in spleen with microscopy. Blood glucose level began to be controlled after 5 days from transplantation in 3 diabetic nude mice and all of 6 diabetic nude mouses revealed normoglycemia after 25 days from transplantation. 4) Islets transplantation with holler fibers into peritoneum of diabetic nude mice was not satisfactory. Although no technical difficulty was occured, persistent hyperglycemia was observed and all of 3 diabetic nude mice were died. CONCLUSION: Though islet transplantation through spleen was sucessful in diabetic nude mouse, further study is needed to clear the cause of failure of hollow fiber model in islets transplantation.
Animals ; Blood Glucose ; Centrifugation, Density Gradient ; Collagenases ; Common Bile Duct ; Diabetes Mellitus ; Drug Compounding ; Humans ; Hyperglycemia ; Insulin ; Islets of Langerhans Transplantation* ; Islets of Langerhans* ; Mice ; Mice, Nude* ; Microscopy ; Microscopy, Electron ; Models, Animal ; Pancreas ; Peritoneum* ; Rats ; Spleen ; Tissue Donors ; Veins

PURPOSE: Anti-insulin antibodies develop within several months of initiation of insulin therapy in most of diabetic patients. The purpose of this study is to observe the relationship between the clinical factors and development of anti-insulin antibody METHODS: Serum was collected from 116 diabetic patients and 47 nondiabetic children for the measurement of anti-insulin antibody titer by radioimmunoassay (RIA). Retrospective analysis of the medical records of clinical factors were evaluated. RESULTS: There was no relationship of anti-insulin antibody titer with age, duration, HbA1c, insulin dose, and BMI in diabetic children. There was no difference in anti-insulin antibody titer according to the sex, the presence of family history, the presence of DKA, the presence of complications, the presence of puberty, species of insulin, duration of disease in diabetic children. The titers of anti-insulin antibody were significantly higher in type 1 diabetic children(30.3+/-17.9% in type 1 and 16.5+/-7.0% in type 2, P<0.05), in which the daily insulin doses were significantly higher than in type 2 DM patients. Additionally, anti-insulin antibody titers were significantly lower in well-controlled DM patients (HbA1c<7%), in which daily insulin doses also were significantly lower than in DM patients whose HbA1c>7%. The positive rates of anti-insulin antibody were higher in male patients with diabetes(73.2% in male and 53.3% in female, P<0.05). The positive rates of anti-insulin antibody were significantly higher in DM patients without diabetic ketoacidosis at DM onset than in DM patients with diabetic ketoacidosis at DM onset & also were higher in poorly-controlled group(HbA1c>7%). CONCLUSION: The results suggests that anti-insulin antibody developed more likely in type 1 DM and less likely in DM patients whose control had been good and who used less insulin doses, which remains to be studied further with more patients for longer duation.
Adolescent ; Antibodies ; Child* ; Diabetic Ketoacidosis ; Female ; Humans ; Insulin ; Male ; Medical Records ; Puberty ; Radioimmunoassay ; Retrospective Studies

PURPOSE: Leptin is a product of ob gene in adipose tissue. This is a important factor for regulation of body weight, especially body fat mass. So it is interested in correlation of leptin with obesity or various diseases related with obesity, particularly diabetes mellitus. It was demonstrated that leptin level was increased in type 2 diabetes and insulin was associated with increased leptin level. This study is to measure leptin levels in type 1 diabetes without insulin resistance, to validate whether insulin increases leptin level and to investigate correlation of leptin with degree of diabetic control and pubertal progression. METHODS: This study included 114 children(boys; 57, girls; 57) with type 1 diabetes, whose blood samples were taken to measure leptin level using RIA(radioimmunoassay). We observed the correlation of leptin with body mass index, HbA1c, insulin dose, duration of disease, and pubertal degree. RESULTS: Mean values of age, BMI, insulin dose, and HbA1c at the measurement of leptin were 13.0+/-5.04 years-old, 18.9+/-3.5kg/m2, 36U/day, and 8.9+/-2.1%, respectively. Thirty seven children were prepubertal and fifty seven children had pubertal characteristics and the rests were not confirmed. With increment of BMI, serum leptin levels were significantly increased in the all subjects, with the same correlation in pubertal female group, but not in pubertal male. There was a relatively weak correlation(r=0.29) of leptin levels with insulin doses. In prepubertal male, there was a significant positive correlation(r=0.55) of leptin with insulin dose, whereas in pubertal male there was shown negative correlation(r=-0.41). Female patients had a significantly higher leptin levels than male, irrespective of pubertal changes or BMI. There was not a significant correlation of leptin levels with duration of diabetes and HbA1c level. CONCLUSION: It is suggested that blood levels of insulin and sex hormones play an important roles in determining the levels of leptin.
Adipose Tissue ; Body Mass Index ; Body Weight ; Child* ; Diabetes Mellitus ; Diabetes Mellitus, Type 1* ; Female ; Gonadal Steroid Hormones ; Humans ; Insulin ; Insulin Resistance ; Leptin* ; Male ; Obesity

PURPOSE: Emotional and behavioral disturbances have been reported in severe short stature children. The purpose of this study was to examine psychosocial problems in children with Growth hormone deficiency(GHD), comparing with their normal height siblings. METHODS: Twenty three children with GHD(17 boys and 6 girls, mean age:13.1+/-2.8 yrs) were included. Their normal height siblings(8 boys and 2 girls, mean age:12.3+/-2.9 yrs) were included as control group. Parents of all participating children completed the Child Behavior Checklist. Patients 10 years and older completed the Youth Self Report. RESULTS: 1)Internalizing problem scores(somatic complaints, anxiety, depression, social incompetence) were higher in GHD compared to control group(49.0+/-15.0 vs 43.2+/-6.2, P<0.05). Externalizing problem scores and social competences were not different between GHD and control group. 2) Total problem scores in GHD were not different by sex. 3)Total problem scores were not different between idiopathic GHD and organic GHD. 4)Attention problems(r=0.45, P<0.05), delinquent behavior(r=0.49, P=0.01) and aggressive behavior(r=0.51, P<0.01) increased by age. 5)Height SDS negatively correlated with social problem(r=-0.47, P<0.05) and delinquent behavior(r=-0.61, P<0.01). Height SDS also negatively correlated with somatic complaints(r=-0.75, P<0.01), anxiety and depression(r=-0.66, P=0.01). CONCLUSION: Internalized problems such as somatic complaints, anxiety and depression were higher in GHD than control group. Behavioral problem scores were increased by age and behavioral problem scores were correlated with height deficit. When we treat GHD children, appropriate medical and psychological counseling should be included.
Adolescent ; Anxiety ; Checklist ; Child Behavior ; Child* ; Counseling ; Depression ; Female ; Growth Hormone* ; Humans ; Parents ; Self Report ; Siblings

PURPOSE: This study was undertaken to obtain the normative data on serum levels of IGF-I and IGFBP-3 in healthy Korean children and to evaluate the effects of age, sex, height, body mass index and pubertal maturation on the serum levels of IGF-I and IGFBP-3. METHODS: This study included 301 healthy Korean subjects in pediatric age group. Serum levels of IGF-I and IGFBP-3 were measured twice using IRMA kit in each individual. The correlations between the serum levels of IGF-I or IGFBP-3 and age, auxological data or children's Tanner stages were evaluated. RESULTS: Serum levels of IGF-I and IGFBP-3 increased in proportion to age progression, and their rates of increase were remarkable shortly before and during the puberty. The correlations between serum levels of IGF-1 and age, sex, height standard deviation scores, BMI, or pubertal maturation were significant(P<0.05). However, the serum levels of IGFBP-3 was correlated only with height standard deviation scores(P<0.05). There was a significant positive correlation between serum levels of IGF-1 and those of IGFBP-3(P<0.001). CONCLUSION: Although IGF-I and IGFBP-3 assays can be utilized for the evaluation of endogenous growth hormone status, the effects of age, sex, BMI, height and pubertal development on the levels of IGF-I and IGFBP-3 must be considered. Therefore, these results would be helpful as a normative data for the growth evaluation of children in Korea.
Adolescent ; Body Height* ; Child* ; Growth Hormone ; Humans ; Insulin-Like Growth Factor Binding Protein 3* ; Insulin-Like Growth Factor I* ; Korea ; Puberty