Type 1 diabetes is an insulin-deficient status due to severe destruction of pancreatic beta cells, and is classified into two subtypes, type 1A and type 1B. Type 1A diabetes is autoimmune and type 1B is idiopathic diabetes. Recently fulminant type 1 diabetes has been identified as a new subtype of idiopathic diabetes. It develops rapidly without any evidence of autoimmunity. This subtype of type 1 diabetes was firstly introduced by Imagawa et al. in 2000, and exclusively reported in Japan. Nonetheless, there has been no case reported in Korea till now. Here, we report a case of fulminant type 1 diabetes in 14-year-old girl. She had acute symptoms for short duration, negative islet-related autoantibodies, elevated serum levels of pancreatic exocrine enzymes (amylase, lipase), high blood glucose level and peripheral neuropathy. But HbA1c level was in normal range. Treatment with insulin was successful, acute symptoms were improved and abnormal laboratory data normalized. Her recent HbA1c level showed only a mild elevation.
Adolescent ; Autoantibodies ; Autoimmunity ; Blood Glucose ; Child ; Diabetes Mellitus ; Diabetes Mellitus, Type 1 ; Diabetic Neuropathies ; Humans ; Insulin ; Insulin-Secreting Cells ; Japan ; Korea ; Peripheral Nervous System Diseases ; Reference Values

Testicular microlithiasis is a rare cause of testicular enlargement. An 8.5-year-old boy presented with bilateral testicular enlargement accompanied by no other pubertal signs. His bone age was 8.5 years and serum levels of luteinizing hormone and follicle-stimulating hormone after gonadotropin-releasing hormone stimulation were within prepubertal limits. Scrotal ultrasonography showed multiple echogenic microcalcifications that are indicative of microlithiasis in both testes. During 2-year follow-up, he developed clinical manifestations of early puberty between 9.5 and 10.5 years of age. Testicular microlithiasis should be considered when boys show bilateral testicular enlargement without other findings of puberty.
Calculi ; Follicle Stimulating Hormone ; Follow-Up Studies ; Gonadotropin-Releasing Hormone ; Hypertrophy ; Luteinizing Hormone ; Puberty ; Testicular Diseases ; Testis

Hyperglycemic hyperosmolar state (HHS) is usually associated with type 2 diabetes mellitus (T2DM) with signigicant mortality and morbidity and is rare in pediatric population. The incidence of obesity and T2DM in children and adolescents is increasing at an alarming rate. With increasing rates of T2DM, the incidence of HHS may increase in pediatric population. HHS is characterized by severe hyperglycemia, a marked increase in serum osmolarity and clinical evidence of dehydration. The significance of HHS in children and adolescents remains largely unappreciated. We describe two obese adolescents with hyperglycemic hyperosmolar state at the onset of T2DM.
Adolescent ; Child ; Dehydration ; Diabetes Mellitus, Type 2 ; Humans ; Hyperglycemia ; Hyperglycemic Hyperosmolar Nonketotic Coma ; Incidence ; Obesity ; Osmolar Concentration

CHARGE syndrome is a congenital malformation disorder that includes Coloboma, Heart defect, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, and Ear abnormalities. Recently hypogonadotropic hypogonadism and abnormal olfactory bulb development are occasionally described in CHARGE syndrome with chromodomain helicase DNA-binding protein 7 (CHD7) gene mutation. We report the case of Korean female patient with CHARGE syndrome and CHD7 mutation who had hypogonadotropic hypogonadism and abnormal olfactory bulb as manifested by delayed puberty and growth retardation at 13 years of age. She had both optic nerve coloboma, external ear abnormalities and bilateral agenesis of the semicircular canals. She had severe mental retardation and autistic-like behavior. We identified a heterozygous nonsense mutation at exon 20 of the CHD7 gene (c.4601G>A; Trp1534X).
CHARGE Syndrome ; Codon, Nonsense ; Coloboma ; Ear ; Ear, External ; Exons ; Fees and Charges ; Female ; Growth and Development ; Heart ; Humans ; Hypogonadism ; Intellectual Disability ; Nasopharynx ; Olfactory Bulb ; Optic Nerve ; Puberty, Delayed ; Semicircular Canals

PURPOSE:We compared anthropomorphic measures and hormone levels in girls with atypical thelarche (AT) and central precocious puberty (CPP) and tried to find out factors discriminating AT from CPP. METHODS:We analyzed clinical and laboratory data of 62 girls with precocious breast development from May 2004 to May 2008 at Kangnam St. Marys Hospital. Immunoradiometeric assay (IRMA) was used to estimate gonadotropins and growth related hormones. CPP was diagnosed if peak luteinizing hormone (LH) level was >6.9 IU/L after gonadotropin hormone releasing hormone (GnRH) stimulation test. A multiple logistic regression analysis and the area under the receiver operating characteristics curve (AUC) were used to analyse the prediction capacity of variable factors to diagnose CPP. RESULT:The basal LH levels (P=0.001), IGF-I levels (P=0.049) and the peak LH levels (P<0.001) in GnRH-stimulation test in girls with CPP were higher than those with AT. Girls with AT had a lower degree of breast maturation than girls with CPP (P=0.001). A multivariate logistic regression model including the basal LH levels and IGF-I levels revealed a strong relation of the basal LH levels to CPP [OR:2.7, 95% confidence interval (CI): 1.1-6.7, P=0.035]. The AUC for basal LH levels showed prediction capacity of basal LH levels to diagnose CPP [AUC: 0.70, 95% CI: 0.57-0.81, P=0.009]. The statistically ideal cut-off value of basal LH levels to discriminate CPP from AT was 2.66 IU/L (sensitivity 40%, specificity 98%) and the clinically meaningful cut-off value was 1.86 IU/L (sensitivity 70%, specificity 62%). CONCLUSION:These results suggest that the basal LH level using IRMA could be a useful parameter discriminating AT from CPP. Further study with larger number of subjects will be needed.
Area Under Curve ; Breast ; Gonadotropins ; Insulin-Like Growth Factor I ; Logistic Models ; Luteinizing Hormone ; Piperazines ; Puberty, Precocious ; ROC Curve ; Sensitivity and Specificity

PURPOSE:Mutations of the PROP1 (Prophet of PIT1) gene lead to combined pituitary hormone deficiency (CPHD), which is characterized by a deficiency of growth hormone (GH), thyroid stimulating hormone (TSH), luteinizing hormone (LH)/follicle stimulating hormone (FSH), prolactin (PRL) and adrenocorticotropic hormone (ACTH). We studied the PROP1 mutations in Korean children with hypopituitarism. METHODS:Twelve patients with congenital hypopituitarism were recruited from the Ajou University Hospital, Korea. The pituitary phenotype ranged from isolated growth hormone deficiency (IGHD) to CPHD. Clinical data, including endocrine and neuroradiological data were obtained from the medical records, and the DNA was collected and screened for mutations within PROP1 using polymerase chain reaction (PCR). The PCR products were sequenced directly. RESULTS:Nine patients had abnormal pituitary gland and three patients showed normal pituitary gland in magnetic resonance imaging (MRI). Endocrinologically, seven patients had IGHD and five had CPHD. Three of CPHD had GHD and hypogonadotrophic hypogonadism and the other two had GHD, central hypothyroidism, and ACTH deficiency. We identified no mutations in the PROP1 gene. However, three known polymorphisms were identified: The 27T->C (Ala9Ala) and the associated IVS1+3A->G in exon 1 were found in 25% of patient alleles sequenced. The 424G->A (Ala142Thr) in exon 3 change was identified in 4% of those sequenced. CONCLUSION:This study corresponds to the previous reports that PROP1 mutations are rare in sporadic cases of CPHD. The low mutation frequency in Korean patients may be due to ethnic-specificity or other candidate genes causing this disease. It is necessary to study PROP1 gene and the involved genes in more Korean patients.
Adrenocorticotropic Hormone ; Alleles ; Child ; DNA ; Exons ; Growth Hormone ; Humans ; Hypogonadism ; Hypopituitarism ; Hypothyroidism ; Korea ; Luteinizing Hormone ; Magnetic Resonance Imaging ; Medical Records ; Mutation Rate ; Phenotype ; Pituitary Gland ; Polymerase Chain Reaction ; Prolactin ; Thyrotropin

PURPOSE:The cone-shaped epiphyses mid-5 (CSE-5) and brachymesophalagia-5 (BMP-5) are common osseous anomalies. Those are thought to be normal variants. We evaluated the frequency of CSE-5 and BMP-5 and the influence of them on adult height in Korean children with normal short stature. METHODS:We retrospectively reviewed medical records of 322 normal short stature children. Lengths of the fourth (MP-4) and fifth middle phalanx (MP-5) and widths of MP-5 of all children were measured. Two indicies for BMP-5 were used. Index 1 was based upon the ratio of the width to the length of the MP-5. Index 2 was based upon the ratio of the lengths of MP-5 to MP-4. CSE-5 was assessed by visual inspection only. We assessed several clinical parameters as follows; advanced skeletal maturation, z-scores of height, target height (THz) and predicted adult height (PAHz) according to CSE-5 and/or BMP-5. Results:Of the 322 children, 23.6% had BMP-5 (male 19.5%, female 27.4%), 23.6% had CSE-5 (male 13.0%, female 33.3%). The children with CSE-5 and/or BMP-5 were more advanced skeletal maturation than normal fifth finger (0.07+/-1.09 yrs vs -0.23+/-1.34 yrs, P=0.049), lower PAHz (-1.13+/-1.09 vs -0.71+/-1.28, P=0.008), lower PAHz- THz (-0.53+/-1.07 vs -0.14+/-1.30, P=0.013). In male subjects, the PAHz had weak correlation with index 1 (r=-0.26, P=0.001) and index 2 (r=0.27, P=0.001). CONCLUSION:This study suggests that BMP-5 and CSE-5 in Korean children with short stature are one contributable factor for adult height.
Adult ; Body Height ; Bone Development ; Bone Morphogenetic Protein 5 ; Child ; Epiphyses ; Female ; Finger Phalanges ; Fingers ; Humans ; Male ; Medical Records ; Retrospective Studies

PURPOSE:The mean height of Korean children has been increased recently, and new version of growth chart was made in 2007. Nevertheless, the reference value on bone mineral density (BMD) of normal children has not been established yet. The aims of this study were to obtain mean values of BMD in normal children and to investigate correlation between BMD and their relating factors. METHODS:One hundred thirty five normal children from 6 to 14 years old were included, who were 69 boys and 66 girls. Bone density was measured at the lumbar spine and the proximal femur by dual energy x-ray absorptiometry (Discovery A, Hologic, 2004). We assessed bone age, body mass index, bone alkaline phosphatase, insulin-like growth factor I (IGF-I), sex steroid level and analyzed their correlation with BMD. Results:The result showed a trend of an increase in BMD according to the age in both boys and girls. The mean value of BMD showed the greatest increase during age of 10 to 11 in girls and 12 to 13 in boys. A sudden increase of BMD in both boys and girls occurred during the overt puberty. Bone age and IGF-I level indicated the most significant relating factors of BMD of lumbar spine. The mean values of BMD of this study were similar to the previous studies about BMD of Korean children. CONCLUSION:The results could be utilized as fundamental data for normal BMD value of Korean children and larger population study is needed.
Absorptiometry, Photon ; Adolescent ; Age Determination by Skeleton ; Alkaline Phosphatase ; Body Mass Index ; Bone Density ; Child ; Femur ; Growth Charts ; Humans ; Insulin-Like Growth Factor I ; Puberty ; Reference Values ; Spine

PURPOSE:We analysed the spectrum of diagnoses made in a consecutive group of children referred for signs of precocious puberty and evaluated the clinical and endocrinologic characteristics. METHODS:Retrospective analysis of 375 children (365 girls and 10 boys) referred for evaluation of signs of precocious puberty between January 2003 and May 2007 was done. Results:The conditions causing precocious puberty were early puberty (36.3%), true precocious puberty (30.4%), premature thelarche (29.1%), pseudo-precocious puberty (3.7%), and premature pubarche (0.5%). Among girls, there were differences in the age of onset of puberty (premature thelarche, 5.4+/-2.6 years vs. true precocious puberty, 6.9+/-1.1 years vs. early puberty, 8.6+/-0.5 years). True precocious puberty girls showed higher height SDS (standard deviation score), weight SDS, BMI (body mass index) percentile, basal FSH (follicle stimulating hormone), LH (luteinizing hormone) and estradiol, more accelerated growth velocity and bone age than those with premature thelarche. True precocious puberty patients showed higher height SDS, weight SDS, and more bone age advancement when compared to those with early puberty. Later onset (>2 years) premature thelarche appeared in 89 girls (81.7% of premature thelarche) at 6.4+/-1.6 years, and among 42 patients followed-up, 8 girls developed true precocious puberty later. CONCLUSION:Common conditions causing precocious puberty are early puberty, true precocious puberty, and premature thelarche. Although premature thelarche may be regarded as a benign condition, true precocious puberty can develop in some patients, so careful follow-up will be needed.
Age of Onset ; Child ; Estradiol ; Follicle Stimulating Hormone ; Follow-Up Studies ; Humans ; Luteinizing Hormone ; Puberty ; Puberty, Precocious

PURPOSE:We compared the blood chemistry concerning calcium metabolism and bone mineral density (BMD) among the infants fed on soy-based formula (SF), breast milk feeding (BF) and casein-based formula (CF). METHODS:Fifty one term neonates delivered at Chungbuk National University Hospital from June 2001 to August 2003, were recruited. They were divided into three feeding groups (BF=20, SF=19, CF=12) by parent's own volition. Breast feeding and artificial formulae were given till three months of age, thereafter weaning food was added freely. Blood chemistry including calcium, phosphorus, and alkaline phosphatase were measured at 5, 12, and 36 months of age. BMD was measured at birth, 5, 12, and 36 months of age. RESULTS:Serum calcium and alkaline phosphatase were not different among the three feeding groups until 36 months of age. At 5 months of age, serum phosphorus (P<0.05) and BMD (P<0.001) were significantly lower in SF group, but thereafter no difference was found in theses parameter until 36 months of age. After birth lumbar spine BMD decreased to the lowest level at 5 months and increased to the birth level at 36 months of age. CONCLUSION:In spite of high mineral intake in SF group, the lowest serum phosphorus and lumbar BMD at 5 months of age suggest poor intestinal mineral absorption. Methods need to be developed to increase intestinal mineral absorption.
Absorption ; Alkaline Phosphatase ; Bone Density ; Breast Feeding ; Calcium ; Humans ; Infant ; Infant, Newborn ; Milk, Human ; Parturition ; Phosphorus ; Soy Milk ; Spine ; Volition ; Weaning