Congenital hyperinsulinism (CHI), the most important cause of hyperglycemia in early infancy, is a heterogenous disease characterized by dysregulation of insulin secretion. Mutations in five proteins have been associated with CHI: sulfonyl urea receptor 1; Kir 6.2; glucokinase; glutamate dehydrogenase and mitochondrial enzyme short-chain 3-hydroxyacyl-coenzyme A dehydrogenase. Early recognition of hypoglycemia, diagnosis of CHI and appropriate management of the hypoglycemia are of the utmost importance to prevent neurologic damage. We report a case of persistent hyperinsulinemic hypoglycemia in 8-month-old male infant. This patient has no mutation in previously mentioned genes. Treatment with diazoxide was successful without any severe side effects in this patient.
Congenital Hyperinsulinism* ; Diagnosis ; Diazoxide* ; Glucokinase ; Glutamate Dehydrogenase ; Humans ; Hyperglycemia ; Hyperinsulinism ; Hypoglycemia ; Infant ; Insulin ; Male ; Oxidoreductases ; Urea

Erythromelalgia is a rare clinical condition of unknown etiology characterized by severe burning pain in the distal limbs. It can be accompanied by pronounced erythema and increased skin temperature precipitated by heat or activity and can be improved by cooling the affected part. It can be divided into two categories, primary, which begins spontaneously at any age, and secondary, which is infrequently associated with diabetes mellitus. However, the significance of this association is little known. We report a rare case of intractable erythromelalgia in an adolescent with diabetes mellitus.
Adolescent* ; Burns ; Diabetes Mellitus* ; Erythema ; Erythromelalgia* ; Extremities ; Hot Temperature ; Humans ; Skin Temperature

Kearns-Sayre Syndrome (KSS) is rare mitochondrial disorder characterized by chronic progressive external ophthalmoplegia, atypical retinal pigmentation and complete heart block. It is occasionally combined endocrinologic symptoms such as hypoparathyroidism, short stature, diabetes mellitus and hypothyroidism. We reported the effect of Coenzyme Q10 on total serum calcium concentration in 17 years old girl with KSS and hypoparathyroidism. The patients was treated with alfacalcidol (1alpha-OHD3), Coenzyme Q10 and oral calcium agent. Total serum calcium concentration had even remained within normal range and hypercalcemia was developed suddenly after treatment of combination of Coenzyme Q10 and alfacalcidol (1alpha-OHD3). After stop of all medication, her total calcium concentration was decreased to 7.6 mg/dL and remained in normal range with oral calcium (2 g/day) and Coenzyme Q10 (150 mcg/day) daily. The action of Coenzyme Q10 is not clearly defined but, we could explain Coenzyme Q10 activates the capacity of the patient to produce the active form of Vitamin D, 1alpha-OHD3.
Adolescent ; Calcium ; Diabetes Mellitus ; Female ; Heart Block ; Humans ; Hypercalcemia* ; Hypoparathyroidism* ; Hypothyroidism ; Kearns-Sayre Syndrome* ; Mitochondrial Diseases ; Ophthalmoplegia, Chronic Progressive External ; Pigmentation ; Reference Values ; Retinaldehyde ; Vitamin D

Sjogren syndrome is a chronic, slowly progressive, autoimmune disease in which the exocrine glands are damaged by lymphocytic infiltration, resulting in xerostomia and xerophthalmia. Sjogren syndrome may occur in 2 forms: primary Sjogren syndrome, when the clinical manifestations of the syndrome are seen alone, and secondary Sjogren syndrome, when associated with another autoimmune disease, such as rheumatoid arthritis, systemic lupus erythromatosus, or scleroderma. Approximately one third of patients present with extraglandular manifestations: arthritis, Raynaud phenomenon, lymphadenopathy, lung involvement, vasculitis and peripheral nervous system involvement. About 10-50% of patients with Sjogren syndrome had evidence of thyroid disease, mainly hypothyroidism. Several inflammatory thyroid diseases are also considered to be autoimmune in origin. In this respect, the histologic picture of primary Sjogren syndrome exocrine glands and autoimmune thyroid glands show great similarities. Here, we report a new case of Sjogren syndrome accompanying with hyperthyroidism which affected a 10-year-old girl.
Arthritis ; Arthritis, Rheumatoid ; Autoimmune Diseases ; Child ; Exocrine Glands ; Female ; Humans ; Hyperthyroidism* ; Hypothyroidism ; Lung ; Lymphatic Diseases ; Peripheral Nervous System ; Raynaud Disease ; Sjogren's Syndrome* ; Thyroid Diseases ; Thyroid Gland ; Vasculitis ; Xerophthalmia ; Xerostomia

PURPOSE: The mean height and weight had been increasing rapidly in Korean adolescents. The purpose of this study was to analyze body physique (height, weight, BMI and waist circumference) of Korean adolescents, using KNHNES data. METHODS: The data were obtained from the KNHNES from each year of 1998, 2001 and 2005. Total number of 4164 adolescents (2140 boys, 2024 girls) aged 10 to 19 years were included. Height, weight, and waist circumference were measured and the mean value of body physique was analyzed by sex and age. RESULTS: For height of 10 yr-old boys, there was no difference between 1998, 2001 and 2005, but the height of 13 yr-old boys was increased more than 3 cm in 2005, compared to 1998 and 2001. For height of 10 yr-old girls, more than 2 cm was increased, but, there was no significant difference after the age of 14 year in each 1998, 2001 or 2005. Height of the age of 19 was 173.7 cm in boys and 161.3 cm in girls in 2005, showing no distinct change compared to 1998 or 2001. Weight and BMI showed significant increase in both sexes and all-aged groups for older than the age of 11 years in 2005, compared to 1998 or 2001. Weight increase was more distinct in boys compared to girls. For boys, waist circumference of 2005 were higher than 1998, but lower than 2001. For girls, waist circumference of 2005 were higher than 1998 and 2001 especially in the late teens. CONCLUSION: Rapid increase in height was shown in the early teenage whereas final height showed no significant difference during 1998-2005. The mean weight and BMI have been increased dramatically in 2005, compared to 1998 or 2001 in boys and girls. This phenomenon was shown more remarkably in boys, compared to girls. These findings emphasize importance of obesity management, especially on boys.
Adolescent* ; Female ; Humans ; Nutrition Surveys* ; Obesity ; Waist Circumference*

PURPOSE: Ghrelin is the known orexigenic hormone as well as an endogenous ligand for the growth hormone secretagogue receptor and has been shown to be related with the regulation of energy homeostasis. To investigate the changes of plasma ghrelin levels in response to weight loss induced by exercise, we measured fasting plasma ghrelin levels in obese and control groups before and after exercise intervention. METHODS: According to body mass index (BMI), total 32 adult women were divided into obese group (n=14, BMI> or =25 kg/m2) and control group (n=18, BMI<25 kg/m2). All subjects underwent weight reduction exercise intervention for 3 months. Before and after exercise, we measured body compositions, serum lipid profiles, serum glucose, plasma ghrelin levels in all subjects. RESULTS: At baseline, the plasma ghrelin levels in obese group were significantly lower than those in the control group. After the exercise intervention, the plasma ghrelin levels increased significantly from 174.8+/-40.8 to 235.9+/-53.1 pg/mL (P<0.05) in obese group and from 244.4+/-42.6 to 276.5+/-45.1 pg/mL (P<0.05) in control group. The changes of plasma ghrelin levels in obese group (38.7+/-30.8 pg/mL) were significantly higher than those of the control group (14.6+/-20.3 pg/mL, P<0.05). However, there was no significant relationship between the changes of plasma ghrelin levels and various parameters in the obese group after exercise. CONCLUSION: In this study, the plasma ghrelin levels in obese adults were significantly increased than those in the control group associated with exercise-induced weight loss. Further studies are needed to establish the precise roles of ghrelin in the regulation of energy homeostasis in obesity.
Adult ; Blood Glucose ; Body Composition ; Body Mass Index ; Fasting ; Female ; Ghrelin* ; Homeostasis ; Humans ; Obesity ; Plasma* ; Receptors, Ghrelin ; Weight Loss

PURPOSE: Metformin is well-established oral hypoglycemic agent for adults and children with type 2 diabetes mellitus. In adults, metformin is effective as initial monotherapy with lack of weight gain. But, its beneficial role on obesity in children is less clearly defined. We assessed the effects of metformin in obese children with type 2 diabetes. METHODS: We evaluated body weight, height, body mass index, fasting blood sugar, HbA1c, lipid profiles in obese 36 children with type 2 diabetes treated with oral hypoglycemic agents at baseline, after 1 year and 2 years of treatment. We divided the subjects into three groups: metformin monotherapy, combination metformin with sulfonylurea, sulfonylurea monotherapy. The changes from baseline in three groups were measured. RESULTS: The decrease in body mass index, blood sugar & HbA1c was observed after treatment with metformin monotherapy group. Metformin monotherapy group after 1 & 2 years of treatment had a greater effect for body mass index (-1.9+/-1.7 kg/m2, -1.5+/-1.6 kg/m2, P<0.05). CONCLUSION: The Metformin monotherapy for obese children with type 2 diabetes improves glycemic control with benefits of significant improvement in body mass index.
Adult ; Blood Glucose ; Body Height ; Body Mass Index ; Body Weight ; Child ; Diabetes Mellitus, Type 2 ; Fasting ; Humans ; Hypoglycemic Agents ; Metformin* ; Obesity ; Weight Gain

PURPOSE: Precocious puberty is defined as the onset of secondary sexual characteristics before 8 year of age in girls and 9 year in boys. The purpose of this study is to analyze the spectrum of diagnoses made in a consecutive group of children referred for signs of precocious puberty and evaluate the clinical and endocrinologic characteristics of patients with precocious puberty. METHODS: The charts of all 948 children referred for evaluation of signs of precocious puberty between January 2003 and June 2007 in several referral centers were reviewed. Clinical features including age of onset, presenting symptoms, yearly growth rate, bone age advancement, weight, height, and body mass index were analysed and endocrine investigations included basal and gonadotropin releasing hormone (GnRH)-stimulated levels of luteinizing hormone (LH) and follicle stimulating hormone (FSH) as well as sex hormones. RESULTS: Of the 948 children referred for signs of precocious puberty, 915 (96.5%) were female and 33 (3.5%) were male. The final diagnoses made were early puberty (39%), premature thelarche (31%), true precocious puberty (27%) and precocious pseudopuberty (1%). The increases in yearly growth rate and bone age advancement were significant in true precious puberty group (P<0.05). The height and weight standard deviation score were significantly increased in true precious puberty and premature thelarche group compared to the average level according to gender and age (P<0.05). Endocrinologic studies showed that the level of basal LH, basal estradiol and GnRH-stimulated peak LH, peak FSH, peak LH/basal LH, peak FSH/basal FSH, peak LH/peak FSH ratio was all significantly higher in true precicous puberty group and early puberty group when compared to premature thelarche group (P<0.05). Neurogenic true precocious puberty among true precocious puberty was more common in boys (3 out of 7, 42.8%) than in girls (27 out of 253, 10.7%). Endocrinologic studies did not show any difference between idiopathic precocious puberty and neurogenic precocious puberty. CONCLUSION: The result of this study showed the proportion of true precocious puberty among the children referred for early pubertal signs was rather high. Collectively assessing all available data including detailed history, growth records, physical findings, laboratory studies and radiological imaging is important in the evaluation of a child with concerns of early pubertal maturation. Foregoing extensive studies regarding incidence and causes of true precocious puberty should be needed.
Adolescent ; Age of Onset ; Body Mass Index ; Child* ; Diagnosis ; Estradiol ; Female ; Follicle Stimulating Hormone ; Gonadal Steroid Hormones ; Gonadotropin-Releasing Hormone ; Humans ; Incidence ; Luteinizing Hormone ; Male ; Puberty ; Puberty, Precocious* ; Referral and Consultation

PURPOSE: Gonadotropin releasing hormone agonist (GnRH agonist) and growth hormone (GH) treatment is widely used in precocious puberty to delay rapid pubertal growth. We studied the effect of these agents on the predicted adult height in girls with precocious puberty. METHODS: 41 girls were selected who had precocious sexual development, with onset from 5 to 8 years of age. They were divided into two groups. Twenty four girls treated only with GnRH agonist were compared with 17 girls treated with GnRH agonist and GH. We analyzed chronologic age (CA), bone age (BA) and predicted adult height (PAH) during and after treatment. RESULTS: Before treatment, there were no differences for CA, BA, body mass index (BMI), PAH and Tanner stage between two groups. After treatment, the PAH [153.7+/-6.85 cm (-1.31+/-1.25 SDS) vs 158.8+/-5.82 cm (-0.30+/-1.24 SDS)] for both age groups were significantly increased. The difference between initial PAH and follow up PAH was significantly increased when the initial PAH was low (P=0.015), and the duration of treatment was long (P=0.009). CONCLUSION: In girls with precocious puberty, GnRH agonist delayed bone maturation and increased PAH. PAH increased more when GnRH agonist and GH treatment was used as opposed to GnRH agonist treatment alone. GH combination therapy should be considered if the initial PAH was very low.
Adult* ; Body Mass Index ; Female* ; Follow-Up Studies ; Gonadotropin-Releasing Hormone* ; Gonadotropins* ; Growth Hormone* ; Humans ; Puberty, Precocious* ; Sexual Development

PURPOSE: Short statue or obesity has been reported in asthmatic children, but the results are inconsistent. Recently eosinophil cationic protein (ECP), eosinophil-derived neurotoxin (EDN) levels has been known as important markers of airway inflammation and reflect asthma severity as well. The aim of this study is to evaluate the growth status and to analyze the possible relation with serum EDN and ECP levels. METHODS: A total of 90 children (57 boys and 33 girls, 4 to 16 years old) who had been admitted for bronchial asthma were included. To standardize the data for age and sex, standard deviation scores (SDS) were calculated for height and weight. Values less than -2 SDS below the mean were considered to be extremely low, -1 SDS to 1 SDS as normal, values higher than 2 SDS considered very high. Serum EDN and ECP levels were measured. RESULTS: The mean height SDS was 0.33+/-0.85 and weight SDS was 0.23+/-1.20. The prevalence of short stature was 2.2%, normal stature 75.5%, and tall stature 22.2%. The prevalence of underweight was 7.8%, normal weight 71.1%, and overweight 21.1%. Height SDS was negatively correlated with serum ECP (r=-0.27, P=0.01) and EDN (r=-0.27, P=0.009) and weight SDS was negatively correlated with serum ECP (r=-0.20, P=0.05). Height SDS were significantly lower in high ECP and EDN groups compared to normal ECP and EDN groups (P<0.01 and P<0.009, respectively). Weight SDS was lower in high ECP group compared to normal ECP group (P<0.05). CONCLUSION: Growth (height and weight) was inversely correlated with serum EDN and ECP levels. These results suggest that high ECP and EDN levels might be related with growth retardation of asthmatic children.
Asthma ; Child* ; Eosinophil Cationic Protein* ; Eosinophil-Derived Neurotoxin ; Eosinophils* ; Female ; Humans ; Inflammation ; Obesity ; Overweight ; Prevalence ; Thinness