The corrected QT (QTc) prolongation in hyperthyroidism and the association of thyroid hormone with the QTc interval / 소아과

PURPOSE: Ventricular repolarization is assessed using the QT interval corrected by the heart rate (QTc) via an electrocardiogram (ECG). Prolonged QTc is associated with an increased risk of arrhythmias and cardiac mortality. As there have been few reports regarding the effects of hyperthyroidism on ventricular repolarization, we studied the association between serum free thyroxine (free T4 [fT4]) and thyroid stimulating hormone (TSH) levels and the QTc interval. METHODS: Thirty-eight patients with hyperthyroidism (<30 years old) were included, and we used their clinical records and available ECGs (between August 2003 and August 2011) to evaluate the association between their fT4 and TSH levels and their QTc interval. In addition, we studied the ECGs of 72 age-matched patients with no hyperthyroidism (control group) and compared their data with that from the patients group. RESULTS: The QTc duration in patients with hyperthyroidism was significantly prolonged compared to that in the control subjects (P<0.001). In addition, the number of hyperthyroid patients with abnormal prolonged QTc was significantly higher than that in the control group (P<0.001). Among the patients with hyperthyroidism, patients with prolonged QTc and borderline QTc had higher fT4 levels and there was positive correlation between their fT4 levels and their QTc interval (P<0.05). However, no correlation was observed between their TSH levels and their QTc interval. CONCLUSION: We report that hyperthyroidism is associated with QTc prolongation. The correlation between the fT4 levels and the QTc interval suggests that thyroid status is associated with QTc values and the risk of cardiac mortality.

Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia / 소아과

Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-old boy presented with clinical and laboratory abnormalities including hypocalcemia, hyperphosphatemia, PTH resistance, multihormone resistance and AHO (round face, short stature, obesity, brachydactyly and osteoma cutis) which were typical of PHP Ia. He had a history of repeated convulsive episodes that started from the age of 2 months. A cranial computed tomography scan showed bilateral calcifications in the basal ganglia and his intelligence quotient testing indicated mild mental retardation. Family history revealed that the patient's maternal relatives, including his grandmother and 2 of his mother's siblings, had features suggestive of AHO. Sequencing of the GNAS gene of the patient identified a heterozygous nonsense mutation within exon 11 (c.637 C>T). The C>T transversion results in an amino acid substitution from Gln to stop codon at codon 213 (p.Gln213*). To our knowledge, this is a novel mutation in GNAS.

A Clinical Study of the Relationship between Obesity and Pubertal Development in Girls / 대한소아소화기영양학회지

PURPOSE: Recently, public interest in obesity and earlier pubertal development has been increasing. The purpose of this study was to analyze the relationship between obesity and pubertal development in girls. METHODS: A total of 158 girls presenting with earlier pubertal development from July 2008 to June 2010 were included in the study. Their mean age was 8.27+/-1.3 years and the mean bone age advancement was 1.86+/-0.3 years. RESULTS: Based on weight-for-height percentiles, their obesity rate was 9.2% and overweight rate was 15.8%. However, for body mass index (BMI), the result was a bit different; with an obesity rate of 13.2% and overweight rate of 24.3%. About 40% of the girls had a family history of early maturation. Among them, 25.7% had a maternal history, 4.6% paternal and 7.2% both. However, 60% of them had no family history. We then classified these girls into families with one son and one daughter, and those with two daughters. In one-son/one-daughter families, 69.3% were the first children and 30.7% were second. In two-daughter families, 65.3% were the first and 34.7% were second. We found that 67.5% had a history of taking herbal medicine. CONCLUSION: The obesity and overweight rates in girls with earlier pubertal development were higher than those of normal girls, but with a small discrepancy between weight-for-height percentile and BMI-based results. Furthermore, taking herbal medicine seems to be a potential factor for earlier pubertal development in Korea.

Hutchinson-Gilford Progeria Syndrome with G608G LMNA Mutation

Hutchinson-Gilford progeria syndrome (HGPS) is a rare condition originally described by Hutchinson in 1886. Death result from cardiac complications in the majority of cases and usually occurs at average age of thirteen years. A 4-yr old boy had typical clinical findings such as short stature, craniofacial disproportion, alopecia, prominent scalp veins and sclerodermatous skin. This abnormal appearance began at age of 1 yr. On serological and hormonal evaluation, all values are within normal range. He was neurologically intact with motor and mental development. An echocardiogram showed calcification of aortic and mitral valves. Hypertrophy of internal layer at internal carotid artery suggesting atherosclerosis was found by carotid doppler sonography. He is on low dose aspirin to prevent thromboembolic episodes and on regular follow up. Gene study showed typical G608G (GGC- > GGT) point mutation at exon 11 in LMNA gene. This is a rare case of Hutchinson-Gilford progeria syndrome confirmed by genetic analysis in Korea.

A Case of Mosaic Ring Chromosome 4 with Subtelomeric 4p Deletion / 대한진단검사의학회지

Ring chromosome is a structural abnormality that is thought to be the result of fusion and breakage in the short and long arms of chromosome. Wolf-Hirschhorn syndrome (WHS) is a well-known congenital anomaly in the ring chromosome 4 with a partial deletion of the distal short arm. Here we report a 10-month-old male of mosaic ring chromosome 4 with the chief complaint of severe short stature. He showed the height of -4 standard deviation, subtle hypothyroidism and mild atrial septal defect/ventricular septal defect, and also a mild language developmental delay was suspected. Brain magnetic resonance imaging showed multifocal leukomalacia. Chromosomal analysis of the peripheral blood showed the mosaic karyotype with [46,XY,r(4)(p16q35)[84]/45,XY,-4[9]/91,XXYY, dic r(4;4)(p16q35;p16q35)[5]/46,XY,dic r(4;4)(p16q35;p16q35)[2]]. FISH study showed the deletion of the 4p subtelomeric region with the intact 4q subtelomeric and WHS region. Both paternal and maternal karyotypes were normal. We compared the phenotypic variation with the previously reported cases of ring chromosome 4. The ring chromosome 4 with the subtelomeric deletion of short arm seems to be related with the phenotype of short stature.

Analysis of the Inquiry Types of the Pediatric Endocrinologic Diseases Counseled on the Internet / 대한소아내분비학회지

PURPOSE: On account of the civilization progress and popularization of the internet, we have researched the current public understandings of the pediatric endocrinologic diseases. METHODS: Analyzable 582 cases of 1,160 cases inquired by the online counsel board for the pediatric endocrinologic diseases from March of 2001 to January of 2004 were classified into four groups. RESULTS: There were 187 inquiries related to short stature. Most counsels were taken by their mothers. In the height distribution of them, under 3 percentile were 27 (21.4%). About precocious puberty, there were 82 for girls and 8 for boys of the total 110 inquiries. The number of children among 6-10 year old were 62. The main subject matter of inquiry accounted for the great majority as 67 cases was about breast budding. And there were 117 inquiries related to childhood diabetes. The number of children among 1-5 year old were 43 (49.4%). Lastly, there were 149 inquiries related to the thyroid diseases. The number of children under 1 year old were 55 (45.8%). CONCLUSION: Considering the most cases of the stature under 50 percentile on the current Korean growth curve begun since 1998, a present phase of quite competition of the stature was recognized. And it could be possible to say that the maternal factor for short stature seems more important than the paternal factor, because our data show that the short stature mothers of the short stature children is two folds more than the short stature fathers of them.

Epidemiology and Clincal Analysis of Acute Viral Respiratory Tract Infections in Children(September, 1998-May, 2003) / 소아과

PURPOSE: Acute respiratory tract infections are the most common illnesses in children. The great majority of these infections involving lower respiratory tracts infections(LRTIs) are caused by respiratory viruses such as respiratory syncytial virus(RSV), parainfluenza virus(PIV), influenza virus (Flu), and adenovirus(ADV), etc. Our purpose was to determine seasonal epidemiology and clinical characteristic features of each viral infection. METHODS: Nasopharyngeal aspirate(NPA)s were collected from 4,554 hospitalized children diagnosed as LRTIs on the first day of admission. The study period was from September 1998(Autumn) through May 2003(Spring). Respiratory viruses were detected in 881(19 percent) cases by isolation of the virus or by antigen detection method using indirect immunofluorescent staining. We reviewed the medical records of 837 cases retrospectively. RESULTS: The identified pathogens were RSV in 485 cases(55 percent), PIV in 152 cases(17 percent), FluA in 114 cases(13 percent), ADV in 79 cases(9 percent) and FluB in 51 cases(6 percent). Outbreaks of RSV occurred every year, mostly in the November through December period and of PIV in the April through June period. LRTIs by FluA reached the highest level in January, 2002. FluB infection showed an outbreak in April, 2002. The clinical diagnoses of viral LRTIs were bronchiolitis in 395 cases(47 percent), pneumonia in 305 cases(36 percent), croup in 73 cases(9 percent) and tracheobronchitis in 64 cases(8 percent). CONCLUSION: Viruses are one of the major etiologic agents of acute LRTIs in chidren. Therefore, we must continue to study their seasonal occurrence and clinical features to focus on management, and also for reasons of prevention.

A Case of Idiopathic Interstitial Pneumonia in Childhood / 소아과

Interstitial lung disease refers to a group of pulmonary disorders characterized by inflammation of the interstitium, derangements and loss of alveolar capillary units leading to disruption of alveolar gas exchange, which induces symptoms of restrictive lung disease. Cases of interstitial pneumonia in children are uncommon and mostly have unknown causes. We have experienced an 8-year old boy who had symptoms of cyanosis, dry cough, dyspnea and abrupt weight loss. He had not been exposed to organic dusts, allergens or any other systemic disease infections. Chest radiology showed diffuse ground glass opacity in both lung fields. High resolution computed tomography(HRCT) showed multiple small patchy areas of consolidation with an underlying ground glass appearance in both lungs. The pathologic findings of lung biopsy tissue showed patchy areas of interstitial fibrosis, alveolar obliteration and nodular fibrotic areas, strongly suggesting interstitial pneumonia. No specific finding of viral inclusion or any other evidence of infection was found under electromicroscopy. We used peak flow meters to compare functional improvement. Forced expiratory volume in one second (FEV1) was decreased to 25 percent of predicted value. The boy was given treatment with prednisone and showed improvements in HRCT findings after two months. He was able to tolerate easy exercise in school and showed clinical improvements after one year of follow up.

The Relationship between BMI, Height and Leptin, Insulin, IGF-I and IGFBP-3 in Obese Children / 대한소아내분비학회지

PURPOSE: The prevalence and severity of childhood obesity are increasing rapidly worldwide. Spontaneous and stimulated growth hormone (GH) secretion are impaired in obesity. However, despite the low GH levels, normal or increased insulin-like growth factor-I (IGF-I) levels have been observed in obese subjects. Growth velocity is commonly normal or increased in obese children. As for the possible mechanisms underlying these observations, overnutrition, chronic hyperinsulinemia and increased free IGF-I have been suggested. To explain the possible mechanisms by which obese children are taller than normal weight children, we have compared height, leptin, insulin, IGF-I and IGF binding protein-3 (IGFBP-3) with body mass index and studied the relationship among these parameters in obese and control group. METHODS: Auxological and endocrine evaluation were performed in 33 obese children (18 boys and 15 girls) and 47 non-obese children (24 boys and 23 girls) at Hanyang University Hospital from Jan. 1999 to Dec. 2000. Obesity was defined as a body mass index (BMI) greater than the 95th percentile for age and sex. Fasing blood samples were taken for the measurement of serum leptin, insulin, IGF-I and IGFBP-3 by radioimmunoassay. RESULTS: The serum concentrations of leptin, insulin, IGF-I and IGFBP-3 were significantly higher in obese children than those in non-obese children. The serum concentrations of leptin (r=0.751, P=0.000), insulin (r=0.746, P=0.000) and IGF-I (SDS) (r=0.747, P=0.000) showed positive correlation to BMI. And the serum concentrations of IGFBP-3 showed positive correlation to BMI with low correlation coefficient respectively (r=0.275, P=0.015). The serum concentration of insulin correlated to that of IGF-I (SDS) positively (r=0.585, P=0.000). CONCLUSION: This study suggest that increased sensitivity of GHR modulated by chronic hyperinsulinemia and increased circulating IGF-I produced by accumulated adipose tissue may enhance the growth in obese children.

Two Cases of Transient Neonatal Diabetes Mellitus in Twin Brothers / 대한소아내분비학회지

Neonatal diabetes mellitus (NDM) is defined as hyperglycemia that presents clinical symptoms within the first month of life and requires insulin therapy to maintain euglycemia. The diabetic condition may be transient, permanent, or transient with recurrence later in life. NDM is a rare clinical disorder. Three cases of NDM have been reported in Korea so far. We experienced two cases of NDM in twin brothers who were born with small for gestational ages. Their HLA typings were DR9 and DR14, and insulin autoantibody, islet cell antibody, GAD-reactive autoantibody, and insulin receptor antibody were not found. The genetic analysis with polymorphic DNA markers for chromosome 6 indicated paternal uniparental isodisomy.

A Case of Sertoli Cell Tumor Presented with Sexual Precosity / 대한소아내분비학회지

Some sexual differentiation disorders are associated with gonadal neoplasia and increased incidence of testicular tumors has been discribed in the patients with, XY gonadal dysgenesis. The incidence of testicular tumors in infants and children are rare, representing only 1% of all pediatric solid tumors. In general, gonadal stromal tumors are one of the most characteristic endocrine tumors of the testis, endocrine activity occurs in at least 10-20%, among them Leydig cell tumors and Sertoli cell tumors are clinically important. Although the exact pathogenesis is unknown, endocrine activity due to estrogen secretion can be manifested clinically with gynecomastia or precocious puberty. We experienced and reported a child who visited for sexual precocity and had XY gonadal dysgenesis with Sertoli cell tumor.

A Case of Subdural Abscess Caused by Morganella morganii / 소아과

Morganella morganii, a gram-negative bacillus and part of normal faecal flora, is recognised as a common cause of urinary tract infection. We report a rare case of subdural abscess caused by M. morganii in an infant. It was secondary to purulent meningitis. The patient improved with treatment that consisted of surgical excision and systemic antibiotics.

Changes in High Levels of 17 alpha-Hydroxyprogesterone at Neonatal Screening / 대한소아내분비학회지

PURPOSE:There are some cases of false positive in neonatal screening for congenital adrenal hyperplasia. To understand its significance of the increased 17 alpha-hydroxyprogesterone(17 alpha-OHP) levels in the cases of positive result, we followed its levels during infancy. METHODS:From July 1997 to June 1998, totally 1,730 babies were screened for congenital adrenal hyperplasia(CAH) measuring 17 alpha-hydroxyprogesterone(17 alpha- OHP) using an enzyme immunoassay(EIA) on dried blood spots. In infants of positive result, the radioimmunoassay(RIA) was used measuring 17 alpha-OHP in serum. And we followed up the levels of 17 alpha-OHP during infancy. Cortisol and ACTH were also measured and followed up in the morning simultaneously. RESULTS:No CAH was detected during the study period. With the 13 ng/mL cutoff limit for 17 alpha-OHP before March 1998, the recall rate was 3.09%. With the 20 ng/mL cutoff limit after March 1998, the recall rate was decreased to 1.58%. Follow-up of the high levels of 17 alpha-OHP in positive cases showed a sharply decreased curve according to age. CONCLUSION: In clinically normal neonates, the high levels of 17 alpha-OHP at screening decreased continuously during infancy.

Changes in High Levels of 17 alpha-Hydroxyprogesterone at Neonatal Screening / 대한소아내분비학회지

PURPOSE:There are some cases of false positive in neonatal screening for congenital adrenal hyperplasia. To understand its significance of the increased 17 alpha-hydroxyprogesterone(17 alpha-OHP) levels in the cases of positive result, we followed its levels during infancy. METHODS:From July 1997 to June 1998, totally 1,730 babies were screened for congenital adrenal hyperplasia(CAH) measuring 17 alpha-hydroxyprogesterone(17 alpha- OHP) using an enzyme immunoassay(EIA) on dried blood spots. In infants of positive result, the radioimmunoassay(RIA) was used measuring 17 alpha-OHP in serum. And we followed up the levels of 17 alpha-OHP during infancy. Cortisol and ACTH were also measured and followed up in the morning simultaneously. RESULTS:No CAH was detected during the study period. With the 13 ng/mL cutoff limit for 17 alpha-OHP before March 1998, the recall rate was 3.09%. With the 20 ng/mL cutoff limit after March 1998, the recall rate was decreased to 1.58%. Follow-up of the high levels of 17 alpha-OHP in positive cases showed a sharply decreased curve according to age. CONCLUSION: In clinically normal neonates, the high levels of 17 alpha-OHP at screening decreased continuously during infancy.

A Case of Cerebral Gigantism(Sotos Syndrome) / 대한소아내분비학회지

Cerebral gigantism(Sotos syndrome) is a growth disorder that consists of large size at birth, rapid early growth rate with accompanying advanced bone age, acromegalic features, and developmental delay. Clumsiness in the absence of other abnormal neurologic findings is common. The cause is unknown. We report here a case of 238/12-year-old Sotos syndrome with final adult height above 97 percentile, abnormal brain MRI findings(large ventricles, prominent trigone, prominent occipital horn & thining of corpus callosum), clumsiness, and some behavioral problems.

Diagnostic Evaluation of Hypogonadism / 대한소아내분비학회지

No abstract available.

A Case of Severe Hypertension associated with Growth Hormone Therapy / 대한소아내분비학회지

The use of recombinant DNA technology to produce human growth hormone has resulted in a marked increase in availability of Growth Hormone(GH) to treat short stature due to GH deficiency and other conditions, such as Turner syndrome, familial short stature, chronic renal insufficiency and intrauterine growth retardation (IUGR). But, the GH therapy may result in the adverse events such as sodium and water retention, pseudotumor cerebri, slipped capital femoral epiphysis, growth of nevi, recurrence of tumor. We experienced a case of severe hypertension associated with GH therapy in a 14-year-old male who presented high blood pressure up to 190/100 mmHg and normalized at 2-3 weeks after discontinuation of GH. Therefore, we think that the blood pressure should be carefully monitored during GH therapy.

Nitroblue Tetrazolium(NBT) Test as a Screening Test of Urinary Tract Infection in Children

PURPOSE: It has been reported that the Nitroblue Tetrazolium(NBT) test is more accurate than the urine pH, leukocyte esterase and nitrite test as a screening test of urinary tract infection (UTI). The purpose of this study is to compare the NBT test with other screening tests and evaluate the clinical usefulness of the NBT test as a screening test. METHODS: We selected 298 results out of the 304 urine cultures which were performed from March, 1999 to July, 1999 and compared them with screening tests such as NBT, urine pH, leukocyte esterase and nitrite tests. We interpreted those results as the urinary tract infection when the screening results were urine NBT(+), pH(>6.5), leukocyte esterase(>or=++) and nitrite(+). RESULTS: Urine NBT, pH and leukocyte esterase tests showed the statistical significance in comparison with the urine culture results(chi-square tests; P<0.001, <0.05, <0.001), while urine nitrite tests did not show statistical significance. As time passing, the sensitivity of 10 min, 30 min, 60 min NBT test was increased to 35%, 72%, 80% respectively but the sensitivity of urine pH and leukocyte esterase was as low as 33%, 16% respectively. But, the specificity of NBT test was reduced from 93% to 53% as the time went by, while the specificity of urine pH and leukocyte esterase tests were as high as each 79%, 96% respectively. Urine NBT tests at 10 min and 30 min showed a higher positive and negative predictive value than those of the other screening tests. CONCLUSION: Urine NBT test as a screening test for UTI was more accurate than the urine pH, nitrite and leukocyte esterase tests. But we think that we should develop a more quick and precise screening test in the future, because of the long time it requires to perform it.

A Molecular Genetic Study with EcoRII Restriction Enzyme on the Steroidogenic Acute Regulatory Protein (StAR) Gene / 대한소아내분비학회지

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.

A Recurred Case of Subacute Necrotizing Lymphadenitis(Kikuchi's Disease) During Childhood

Subacute necrotizing lymphadenitis, or Kikuchi's disease, primarily affects the cervical lyrnph nodes of lung adults and has a self-limited clinical course. Differential diagnoses are malignant lymphoma and systemic lupus erythematosus. Recurrence rate is low as 3.3%, and there have been a few reports describing the recurrence of the disease. The symptoms in almost all recurrent cases were similar to those of the early stages of the disease. The etiology of the disease remains unknown, but various viral infections and autoimmune processes have been postulated to be the cause. A 6-year-old boy presented with a fever of approximately 40C degrees, painless lumps on both sides of the neck, and intermittent abdominal pain for 2 weeks. Subacute necrotizing lymphadenitis was diagnosed 3 years before admission, which was reported by us in 1996. Diagnosis of recurred subacute necrotizing lymphadenitis was confirmed by histological examination of the lymph node. We report a recurred case of subacute necrotizing lymphadenitis during childhood.