Turner syndrome is one of the most common chromosomal disorders. It is caused by numerical or structural abnormalities of the X chromosome and results in short stature and gonadal dysgenesis. The short stature arises from haploinsufficiency of the SHOX gene, whereas overdosage contributes to tall stature. This report describes the first Korean case of Turner syndrome with tall stature caused by SHOX overdosage. The patient presented with primary amenorrhea and hypergonadotropic hypogonadism at the age of 17 years. Estrogen replacement therapy was initiated at that time. She displayed tall stature from childhood, with normal growth velocity, and reached a final height of 190 cm (standard deviation score, 4.3) at the age of 30 years. Her karyotype was 46,X, psu idic(X)(q21.2), representing partial monosomy of Xq and partial trisomy of Xp. Analysis by multiplex ligation-dependent probe amplification detected a duplication at Xp22.3-Xp22.2, encompassing the PPP2R3 gene near the 5'-end of the SHOX gene through the FANCD gene at Xp22.2.
Amenorrhea ; Chromosome Deletion ; Chromosome Disorders ; Estrogen Replacement Therapy ; Female ; Gonadal Dysgenesis ; Haploinsufficiency ; Humans ; Hypogonadism ; Karyotype ; Multiplex Polymerase Chain Reaction ; Trisomy ; Turner Syndrome* ; X Chromosome

We report a 13-year-old girl with Graves disease, who showed an increased level of serum creatine kinase (CK) accompanied by myalgia after methimazole (MMI) treatment. This patient developed muscular pain two weeks after MMI administration, along with increased CK levels. The level of thyroid hormone was within the normal range when she showed increased CK levels. After the MMI dose was decreased and levo-thyroxine was added, serum CK levels decreased to normal and the myalgia improved. The pathophysiologic mechanism of this effect has not yet been elucidated. An acute relatively hypothyroid state occurs secondary to antithyroid drug (ATD) administration in chronic hyperthyroidism, which may cause changes in the CK levels. In this report, we present a rare pediatric case, along with a literature review of similar cases. In the initial state of MMI treatment, myalgia should be detected and when it occurs, CK levels should be measured. The clinical strategy of monitoring CK levels with the aim of normalizing thyroid hormones is helpful in case of the development of adverse reactions, such as myalgia, during ATD treatment for Graves disease in children.
Adolescent* ; Antithyroid Agents ; Child ; Creatine Kinase* ; Female ; Graves Disease* ; Humans ; Hyperthyroidism ; Methimazole* ; Myalgia ; Reference Values ; Thyroid Gland ; Thyroid Hormones

Vitamin D deficient rickets is generally known to occur in breast fed infants. And excessive phosphate ingestion is a main cause of late onset hypocalcemia in formula fed infants. Here we introduce 45-day-old formula fed hypocalcemic twins with recurrent seizure attacks. They were diagnosed as having both of vitamin D deficient rickets and hyperphosphatemia. Radiologic findings indicated mild rickets and the twins were treated with calcium and alfacalcidol. After 3-5 months of oral supplementation, medication was discontinued in both twins. They showed normal growth and calcium, phosphorus, and vitamin D levels during the 6-month follow-up period. Twins can be at risk for hypocalcemia because of their high risk of vitamin D deficiency, low birth weight, and premature birth. Therefore twin pregnant women need ingestion of sufficient vitamin D and calcium.
Breast ; Calcium ; Eating ; Female ; Follow-Up Studies ; Humans ; Hyperphosphatemia* ; Hypocalcemia ; Infant* ; Infant, Low Birth Weight ; Infant, Newborn ; Phosphorus ; Pregnant Women ; Premature Birth ; Rickets* ; Seizures* ; Twins* ; Vitamin D Deficiency ; Vitamin D*

A 9-year-, 11-month-old girl was brought to the Emergency Department for sudden dyspnea caused by massive pericardial effusion. In addition to relative bradycardia despite impending cardiac tamponade, short stature, overweight, and hypercholesterolemia were clues for suspected hypothyroidism. During thyroxine supplementation, catch-up growth was incomplete by rapid skeletal maturation. The use of short-term growth hormone showed increased growth velocity. In conclusion, primary hypothyroidism should be included in the etiologic evaluation of pericardial effusion, especially when it is associated with relative bradycardia. Additional growth promoting therapy should be considered for incomplete catch-up growth in prolonged hypothyroidism during thyroxine supplementation.
Bradycardia ; Cardiac Tamponade ; Child* ; Dyspnea ; Emergency Service, Hospital ; Female ; Growth Hormone ; Humans ; Hypercholesterolemia ; Hypothyroidism* ; Infant ; Overweight ; Pericardial Effusion* ; Thyroxine

PURPOSE: We hypothesized that overweight or obese children might develop type 1 diabetes mellitus (T1DM) early despite residual beta-cell function. Factors independently associated with preservation of C-peptide level were analyzed. METHODS: We retrospectively reviewed the medical data of 135 children aged 2.1-16.5 years with autoimmune T1DM. Body mass index (BMI), pubertal stage, and glycosylated hemoglobin (HbA1c) and C-peptide levels were evaluated. Patients were assigned to underweight (22.2%), normal weight (63.7%), and overweight or obese (14.1%) groups according to their BMI. RESULTS: Preservation of serum C-peptide levels (> or =0.6 ng/mL) was found in 43.0% of subjects. With increasing BMI, the proportions of children with preserved C-peptide levels increased from 33.3% to 41.9% to 63.2%, with marginal significance (P=0.051). Interaction analysis indicated no effect of BMI score on age at onset associated with serum C-peptide levels. The lower the C-peptide level, the younger the age of onset (P<0.001), after adjustment for BMI z-score and HbA1c level. However, no significant relationship between BMI z-score or category and onset age was evident. Upon multivariate-adjusted modeling, the odds that the C-peptide level was preserved increased by 1.2 fold (P=0.001) per year of life, by 3.1 folds (P=0.015) in children presenting without (compared to with) ketoacidosis, and by 5.0 folds (P=0.042) in overweight or obese (compared to underweight) children. CONCLUSION: Overweight or obese children had slightly more residual beta-cell function than did underweight children. However, we found no evidence that obesity temporally accelerates T1DM presentation.
Age of Onset ; Body Mass Index ; C-Peptide* ; Child* ; Diabetes Mellitus, Type 1* ; Diagnosis* ; Hemoglobin A, Glycosylated ; Humans ; Ketosis ; Obesity ; Overweight* ; Retrospective Studies ; Thinness*

PURPOSE: To describe the clinical characteristics of full-term neonates with hypocalcemia and to suggest factors associated with neonatal hypocalcemia METHODS: The medical records of full-term neonates with hypocalcemia were reviewed. Hypocalcemia was defined as an ionized calcium (iCa) concentration of <4 mg/dL. Parathyroid hormone (PTH) insufficiency was defined as a serum PTH level of <60 pg/mL or a serum phosphorus level higher than the serum calcium level in the presence of hypocalcemia. RESULTS: Fifty-three neonates were enrolled. The median age at diagnosis of hypocalcemia was 3 days. In all the neonates, formula feeding predominance was observed. Thirty-eight neonates (69.8%) were compatible with PTH insufficiency. The number of formula-fed neonates was significantly higher than that of breast-fed patients among neonates with PTH insufficiency (P=0.017). Intact PTH was negatively correlated with serum phosphorus levels. Twelve out of 14 neonates (85.7%) had 25-hydroxy vitamin D (25OHD) levels <20 ng/mL and 9 neonates (64.3%) had 25OHD levels <10 ng/mL. Twenty-one neonates had hypocalcemic tetany. The serum calcium and iCa concentrations of neonates with tetany were 4.2-8.3 mg/dL and 1.85-3.88 mg/dL, respectively. Three neonates showed symptomatic hypocalcemia with calcium levels over 7.5 mg/dL. Among the 16 neonates who underwent electroencephalography (EEG), 12 had abnormalities, which normalized after 1-2 months. CONCLUSION: Formula milk feeding, PTH insufficiency and low serum vitamin D concentration are associated with the development of neonatal hypocalcemia. Symptoms such as tetany and QT interval prolongation can develop in relatively mild hypocalcemia. Moreover, transient neonatal hypocalcemia can cause transient EEG abnormalities.
Calcium ; Diagnosis ; Electroencephalography ; Humans ; Hypocalcemia* ; Infant, Newborn ; Medical Records ; Milk ; Parathyroid Hormone ; Phosphorus ; Tetany ; Vitamin D

PURPOSE: This study investigated the relationship between height and psychopathology in community children with relatively short stature according to the parents' reports. Also, the matter of parental concern about child's height was explored. METHODS: The child behavior checklist (CBCL), the Brief Encounter Psychosocial Instrument (BEPSI), and the child-health questionnaire-parent form 50 (CHQ-PF50) were administered to 423 parents (from elementary and middle school children's) in Gangnam, South Korea. Subjects were divided into three groups; (1) relatively short (n=30), (2) average stature (n=131), (3) relatively tall (n=153). CBCL, BEPSI, and CHQ-PF50 scores were compared among three groups. RESULTS: There were no significant differences in psychosocial burden associated with relatively short stature measured by Korean version of the BEPSI and Korean version of the CBCL scores among three groups. But general health perception score of relatively short was significantly lower than that of nonshort on the CHQ-PF50. Also, they were more used complementary medicines, milk and growth hormone compared to the nonshort. The parents' expected height of their children was 180.6+/-3.5 cm for boys and 166.7+/-3.5 cm for girls. This is respectively 90 percentile and 75-90 percentile for the Korean standard adult height. CONCLUSION: Our study shows that in Korea, Parents tended to regard relatively short children as having health problems. Also, the parental expectation for their child's attainable height is unrealistically tall, mostly due to lack of correct medical information.
Adult ; Checklist ; Child Behavior ; Child* ; Female ; Growth Hormone ; Humans ; Korea ; Milk ; Parents ; Psychopathology*

The growing attention to alternative glycemic biomarkers including fructosamine, glycated albumin (GA), 1,5-anhydroglucitol (1,5-AG), is attributable to the limitations of the glycated hemoglobin (HbA1c) assay. It is important to recognize the conditions in which HbA1c levels may be difficult to interpret. Serum fructosamine and GA have been proposed useful tools for monitoring of short-term glycemic control. These biomarkers not only reflect well glycemic control in hematologic disorder, but also represent postprandial glucose fluctuation. Serum 1,5-AG may be useful for estimating within-day glucose variation. Use of these nontraditional tests can be more helpful in the management of diabetes as complement traditional measures. Further larger cohort studies are warranted to determine whether nontraditional biomarkers have potential utility for early diagnosis, management of diabetes, and prevention of diabetic complications.
Biological Markers* ; Cohort Studies ; Complement System Proteins ; Diabetes Complications ; Diabetes Mellitus ; Early Diagnosis ; Fructosamine* ; Glucose ; Hemoglobin A, Glycosylated

Increasing evidence suggests an important role of the insulin-like growth factor (IGF)-IGF binding protein (IGFBP) axis in the maintenance of normal glucose and lipid metabolism. Significant changes occur in the local IGF-I-IGFBPs environment in response to the diabetic milieu. A significant reduction of serum IGF-I levels was observed in patients with type 1 diabetes mellitus (T1DM). Inversely, considerably increased serum levels of IGF-I and IGFBP-3 levels were detected in individuals with glucose intolerance including T2DM. Recently, several prospective studies indicated that baseline levels of IGF-I and IGFBPs are associated with the development of diabetes. These findings suggest that disturbances in insulin and IGF-I-IGFBP axis can affect the development of glucose intolerance including diabetes.
Axis* ; Carrier Proteins ; Diabetes Mellitus* ; Diabetes Mellitus, Type 1 ; Glucose ; Glucose Intolerance ; Humans ; Insulin ; Insulin-Like Growth Factor Binding Protein 1 ; Insulin-Like Growth Factor Binding Protein 3 ; Insulin-Like Growth Factor Binding Proteins* ; Insulin-Like Growth Factor I ; Lipid Metabolism

The original published article contains an inaccurate statement in Acknowledgements section.