Multiple Endocrine Neoplasia Type 1 Presenting as Hypoglycemia due to Insulinoma

Multiple endocrine neoplasia (MEN) mutation is an autosomal dominant disorder characterized by the occurrence of parathyroid, pancreatic islet, and anterior pituitary tumors. The incidence of insulinoma in MEN is relatively uncommon, and there have been a few cases of MEN manifested with insulinoma as the first symptom in children. We experienced a 9-year-old girl having a familial MEN1 mutation. She complained of dizziness, occasional palpitation, weakness, hunger, sweating, and generalized tonic-clonic seizure that lasted for 5 minutes early in the morning. At first, she was only diagnosed with insulinoma by abdominal magnetic resonance images of a 1.3 × 1.5 cm mass in the pancreas and high insulin levels in blood of the hepatic vein, but after her father was diagnosed with MEN1. We found she had familial MEN1 mutation, and she recovered hyperinsulinemic hypoglycemia after enucleation of the mass. Therefore, the early genetic identification of MEN1 mutation is considerable for children with at least one manifestation.

The changes of subtypes in pediatric diabetes and their clinical and laboratory characteristics over the last 20 years

PURPOSE: We studied the changes in subtypes of diabetes mellitus (DM) in children and evaluated the characteristics of each group over the past 20 years. In addition, we also examined the correlation between the glycated hemoglobin (HbA1c) values at the time of diagnosis and lipid profiles. METHODS: The patients were divided into 2 groups: there were a total of 190 patients under 20 years of age firstly diagnosed with DM in Ajou University Hospital. The patients in groups I and II were diagnosed from September 1995 to December 2004 and from January 2005 to April 2014, respectively. RESULTS: The characteristics were compared between the 2 groups of patients. The result showed an increase in percentage of type 2 diabetes and maturity onset diabetes of the young (MODY) patients between the 2 groups. HbA1c and total cholesterol level had statistical significances to explain increasing the low-density lipoprotein cholesterol level among age, HbA1c, total cholesterol level, and z-scores of weight and body mass index (BMI) in type 2 diabetes. R-square was 0.074. However, z-score of BMI and total cholesterol level, not HbA1c, had statistical significances in type 1 diabetic patients. R-square was 0.323. CONCLUSION: The increase in the proportions of both type 2 diabetes and MODY in the last 10 years needed to be reminded when diagnosing the subtypes of DM, and the dyslipidemia should be attended more as a common problem of pediatric diabetic patients.

The changes of subtypes in pediatric diabetes and their clinical and laboratory characteristics over the last 20 years

PURPOSE: We studied the changes in subtypes of diabetes mellitus (DM) in children and evaluated the characteristics of each group over the past 20 years. In addition, we also examined the correlation between the glycated hemoglobin (HbA1c) values at the time of diagnosis and lipid profiles. METHODS: The patients were divided into 2 groups: there were a total of 190 patients under 20 years of age firstly diagnosed with DM in Ajou University Hospital. The patients in groups I and II were diagnosed from September 1995 to December 2004 and from January 2005 to April 2014, respectively. RESULTS: The characteristics were compared between the 2 groups of patients. The result showed an increase in percentage of type 2 diabetes and maturity onset diabetes of the young (MODY) patients between the 2 groups. HbA1c and total cholesterol level had statistical significances to explain increasing the low-density lipoprotein cholesterol level among age, HbA1c, total cholesterol level, and z-scores of weight and body mass index (BMI) in type 2 diabetes. R-square was 0.074. However, z-score of BMI and total cholesterol level, not HbA1c, had statistical significances in type 1 diabetic patients. R-square was 0.323. CONCLUSION: The increase in the proportions of both type 2 diabetes and MODY in the last 10 years needed to be reminded when diagnosing the subtypes of DM, and the dyslipidemia should be attended more as a common problem of pediatric diabetic patients.

Associations between serum vitamin D levels and precocious puberty in girls

PURPOSE: Vitamin D deficiency has been linked to chronic diseases, such as diabetes mellitus, obesity and autoimmune disease. However, data on the vitamin D status and its association with precocious puberty in girls are limited. We aimed to investigate the association between serum 25-hydroxyvitamin D (25OHD) and precocious puberty in girls. METHODS: A total of 60 girls with central precocious puberty (CPP) and 30 control girls were enrolled. Anthropometric measurement and serum level of 25OHD were estimated for all subjects. RESULTS: There was a significant difference in the mean serum 25OHD concentration between the precocious puberty group and the control group (17.1+/-4.5 ng/mL vs. 21.2+/-5.0 ng/mL, P30 ng/mL). Vitamin D deficient girls had a significantly higher odds ratio (OR, 3.05; 95% CI, 1.22-7.57, P=0.021). CONCLUSION: These results showed that vitamin D levels may be associated with precocious puberty. Further studies are required to establish the potential effect of vitamin D status on puberty.

Glycogenic hepatopathy in a Korean girl with poorly controlled type 1 diabetes mellitus

Glycogenic hepatopathy (GH) is a rare complication of type 1 diabetes mellitus. We report the case of a 13-year-old diabetic female with poorly controlled blood sugar levels who presented with abdominal pain and distention 1 month in duration. She exhibited tender hepatomegaly, an elevated lipid profile, and elevated serum transaminase levels. Her liver histology was consistent with GH. The pathophysiology and/or underlying genetic background of GH remains unclear. The optimum treatment for GH is optimal glycemic control, and the prognosis is favorable. Clinicians should be aware of the possibility of GH and observe the clinical response to optimal glycemic control prior to invasive investigation.

Juvenile Rheumatoid Arthritis in Children with Ebstein-barr Virus Infection

OBJECTIVE: Juvenile rheumatoid arthritis (JRA) may occur in the wake of infection with several viruses including Ebstein-barr virus (EBV). EBV remains an interesting target. To determine the possible role of EBV infections in the clinical course of JRA, we attempt to demonstrate the radiologic changes and the frequency prescription of etanercept rather than classic therapy. METHODS: Total of 87 patients with JRA, who were hospitalized in Hangang Sacred Hospital and Kangnam Sacred Hospital in Seoul from 2002 to 2010, were assessed serologically for EBV infection (anti EBV VCA IgM and IgG) at admission. Patients with JRA were devided 2 groups, one is EBV VCA IgG (+) JRA patients who had been infected before and another is EBV VCA IgG (-) JRA patients who had not. RESULTS: EBV VCA IgG (+) were seen in 55 patients (63.2%). 31 boys (76%) and 24 girls (52%) were infected with EBV. The mean age of patients of EBV (+) JRA was 8.2+/-3.6 years and that of EBV (-) JRA was 5.3+/-3.4 years. 7 of EBV (+) JRA (13%) developed radiologic change within 2 years, compare with none of EBV (-) JRA. 22 of EBV (+) JRA (49%) with JRA did not respond to the classic therapy, compare with 7 of EBV (-) JRA (22%). CONCLUSION: JRA patients with past EBV infection were older in ages, more in male, more radiologic changes, needed more biologic treatment than those without past EBV infection.

The Usefulness of Measuring the Second Metacarpal Length as a Predictive Index for Growth Velocity during GnRH Agonist Treatment in Girls with Central Precocious Puberty

PURPOSE: The growth velocity in patients with central precocious puberty during treatment cannot be predicted. There is a positive correlation in growth among the long bones of the body and the length of the femur and tibia may determine individual height. We want to determine whether the second metacarpal bone can be used as a predictive index for growth velocity during gonadotropin-releasing hormone (GnRH) agonist treatment. METHODS: Thirty-four female children who were diagnosed with precocious puberty at our clinic and treated with GnRH agonist for about 1 year were included in this study. Patients who had growth-related disease, such as growth hormone deficiency and thyroid diseases were excluded. We reviewed their medical records retrospectively. We measured their height and the second metacarpal length from the X-ray film (left hand Anterior-Posterior at the time of their diagnosis and about a year after their GnRH agonist treatment. RESULTS: The age of the subjects was 8.5+/-0.6 years. The growth velocity during treatment was 4.9+/-1.2 cm/yr. There was a positive correlation between height and the second metacarpal length at diagnosis (P = 0.000, r = 0.666) and at one year after treatment (P = 0.000, r = 0.654). There was no correlation between the second metacarpal length at diagnosis and growth velocity during treatment for 1 year. CONCLUSION: We could not find the correlation between the second metacarpal length and growth velocity during GnRH agonist treatment for 1 year. However, the second metacarpal length showed a positive correlation with height before and after treatment. Therefore further study should be done to discovering the mechanisms working during GnRH agonist treatment including bone age, midparental height and so on.

The Usefulness of Measuring the Second Metacarpal Length as a Predictive Index for Growth Velocity during GnRH Agonist Treatment in Girls with Central Precocious Puberty

PURPOSE: The growth velocity in patients with central precocious puberty during treatment cannot be predicted. There is a positive correlation in growth among the long bones of the body and the length of the femur and tibia may determine individual height. We want to determine whether the second metacarpal bone can be used as a predictive index for growth velocity during gonadotropin-releasing hormone (GnRH) agonist treatment. METHODS: Thirty-four female children who were diagnosed with precocious puberty at our clinic and treated with GnRH agonist for about 1 year were included in this study. Patients who had growth-related disease, such as growth hormone deficiency and thyroid diseases were excluded. We reviewed their medical records retrospectively. We measured their height and the second metacarpal length from the X-ray film (left hand Anterior-Posterior at the time of their diagnosis and about a year after their GnRH agonist treatment. RESULTS: The age of the subjects was 8.5+/-0.6 years. The growth velocity during treatment was 4.9+/-1.2 cm/yr. There was a positive correlation between height and the second metacarpal length at diagnosis (P = 0.000, r = 0.666) and at one year after treatment (P = 0.000, r = 0.654). There was no correlation between the second metacarpal length at diagnosis and growth velocity during treatment for 1 year. CONCLUSION: We could not find the correlation between the second metacarpal length and growth velocity during GnRH agonist treatment for 1 year. However, the second metacarpal length showed a positive correlation with height before and after treatment. Therefore further study should be done to discovering the mechanisms working during GnRH agonist treatment including bone age, midparental height and so on.

The Treatment of Pernicious Anemia in Children with Graves' Disease

Organ specific autoimmune diseases may occur in the same individual. Type III polyglandular autoimmune disease is defined by the occurrence in the same individual of two or more of the following: autoimmune thyroid disease, pernicious anemia, insulin dependent diabetes, and other organ specific autoimmune diseases not falling into class I or class II categories. A 16-year-old girl developed pernicious anemia during the treatment of Graves' disease. She was diagnosed with Graves' disease 5 years ago and had received methimazole 20 mg/day, but the medication was not well tolerated. Bone marrow findings were compatible with pernicious anemia as macrocytic normochromic red blood cell (RBC) and increased megakaryocyte. The serum value of vitamin B12 was low, and the serum titer of antibody to gastric parietal cell was high. After diagnosis of pernicious anemia, she had treatment by monthly intramuscular vitamin B12 and methimazole (20 mg/day). The values of hemoglobin and RBC indices as well as thyroid function were normalized after 2 months. Vitamin B12 therapy was maintained for 1 year with normal RBC indices. At present, she dose not receive treatment with vitamin B12 but she does receive methimazole treatment. We report a case of treatment of pernicious anemia in a 16 year-old girl during treatment for Graves disease.

The Treatment of Pernicious Anemia in Children with Graves' Disease

Organ specific autoimmune diseases may occur in the same individual. Type III polyglandular autoimmune disease is defined by the occurrence in the same individual of two or more of the following: autoimmune thyroid disease, pernicious anemia, insulin dependent diabetes, and other organ specific autoimmune diseases not falling into class I or class II categories. A 16-year-old girl developed pernicious anemia during the treatment of Graves' disease. She was diagnosed with Graves' disease 5 years ago and had received methimazole 20 mg/day, but the medication was not well tolerated. Bone marrow findings were compatible with pernicious anemia as macrocytic normochromic red blood cell (RBC) and increased megakaryocyte. The serum value of vitamin B12 was low, and the serum titer of antibody to gastric parietal cell was high. After diagnosis of pernicious anemia, she had treatment by monthly intramuscular vitamin B12 and methimazole (20 mg/day). The values of hemoglobin and RBC indices as well as thyroid function were normalized after 2 months. Vitamin B12 therapy was maintained for 1 year with normal RBC indices. At present, she dose not receive treatment with vitamin B12 but she does receive methimazole treatment. We report a case of treatment of pernicious anemia in a 16 year-old girl during treatment for Graves disease.