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Original Article
Endocrinology
Final height of Korean patients with early treated congenital hypothyroidism
Jiyun Lee, Jeongho Lee, Dong Hwan Lee
Clin Exp Pediatr. 2018;61(7):221-225.   Published online July 15, 2018

Purpose: Congenital hypothyroidism (CH) is the most common endocrine disorder in children. Thyroid hormone deprivation results not only in mental retardation but also growth retardation. This study investigates the final height (FH) in Korean patients with CH detected by newborn screening and examines factors that may affect the FH. Methods: The medical records of Korean CH patients (n=45) were reviewed. The...
Characteristics of thyroid nodules in infant with congenital hypothyroidism
Seo Young Youn, Jeong Ho Lee, Yun-Woo Chang, Dong Hwan Lee
Clin Exp Pediatr. 2014;57(2):85-90.   Published online February 24, 2014
Purpose

This study aimed to assess the characteristics of thyroid nodules among infants diagnosed with congenital hypothyroidism.

Methods

A retrospective study of 660 infants (374 males, 286 females) diagnosed with congenital hypothyroidism was carried out at the Pediatric Endocrine Clinic in Soonchunhyang University Hospital, Korea, between May 2003 and February 2013. The average age at diagnosis was 1.16±1.68 months.

Results

Of the 28 patients (4.2%)...

Spectrum of patients with hypermethioninemia based on neonatal screening tests over 14 years
Se Jung Oh, Yong Hee Hong, Yong Wha Lee, Dong Hwan Lee
Clin Exp Pediatr. 2010;53(3):329-334.   Published online March 15, 2010
Purpose : The neonatal screening test for homocystinuria primarily measures methionine by using a dried blood specimen. We investigated the incidence and clinical manifestations of homocystinuria, isolated hypermethioninemia, and transient hypermethioninemia among patients with hypermethioninemia on a neonatal screening test. Methods : We performed a retrospective study of 58 patients transferred to Shoonchunhyang Hospital because of hypermethioninemia on a neonatal...
Case Report
Two cases of Fabry disease identified in brothers
Ji Eun Cho, Yong Hee Hong, Yang Gyun Lee, Han Wook Yoo, Dong Hwan Lee
Clin Exp Pediatr. 2010;53(2):235-238.   Published online February 15, 2010
Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the α-galactosidase A (GLA) enzyme. We report two cases of Fabry disease in a 12-year-old boy who had acroparesthesia and in his elder brother with milder symptoms who were diagnosed by GLA activity assays and the presence of the GLA gene...
Review Article
The prevalence of pediatric endocrine and metabolic diseases in Korea
Dong Hwan Lee
Clin Exp Pediatr. 2008;51(6):559-563.   Published online June 15, 2008
The government neonatal screening program has a 17-years history. Therefore, it can now provide information on the prevalence of endocrine and metabolic diseases which included in neonatal screening. Knowledge of the prevalence of metabolic diseases is very important with these results, the most effective screening methods can be determined and diseases can be identified that should be added to neonatal...
Case Report
Clinical improvement in a case of atypical infantile onset Pompe disease with enzyme replacement therapy
You Hoon Jeon, Baik-Lin Eun, Chang Sung Son, Dong Hwan Lee
Clin Exp Pediatr. 2007;50(2):213-217.   Published online February 15, 2007
Pompe disease is a genetic disorder caused by a deficiency of acid α-glucosidase (GAA). Infantile onset Pompe disease is uniformly lethal. Affected infants generally present in the first few months of life with hypotonia, generalized muscle weakness, and a hypertrophic cardiomyopathy, which is rapidly followed by death, usually by the age of one. The late-onset form is characterized less severe...
Review Article
Newborn screening of inherited metabolic disease in Korea
Dong Hwan Lee
Clin Exp Pediatr. 2006;49(11):1125-1139.   Published online November 15, 2006
In 1991, the Ministry of Health & Social affairs adopted a nationwide service program for neonatal screening of phenylketonuria, galactosemia, maple syrup urine disease, homocystinuria, histidinemia & congenital hypothyroidism for newborns delivered from low class pregnant women registered in health centers. Government decreased the test items from six to two, PKU & congenital hypothyroidism to increase test numbers with same...
Original Article
Evaluation of diagnostic methods in children with nonpalpable undescended testis
Noh Sung Seok, Hong Jin Suh, Dong Hwan Lee
Clin Exp Pediatr. 2006;49(7):732-736.   Published online July 15, 2006
Purpose : Numerous methods exist for diagnosing nonpalpable testis in treatment of cryptochidism. However, there is no clinically established data for the rational diagnostic tool of nonpalpable testis in terms of expenses. We tried to establish a current conventional diagnostic course of nonpalpable testis. We then evaluated the efficacy of ultrasonography, physical examination under general anesthesia and laparoscopy for diagnosing...
Carotid Intima-Media Thickness Measurement in Obese Children
Kyung Ok Park, Suk Ju Choi, Hee Hyun Yeom, Sochung Chung, Jeong Jin Yu, Youngshin Park, Dong Hwan Lee
Clin Exp Pediatr. 2005;48(9):935-938.   Published online September 15, 2005
Purpose : The aim of the present study was to ascertain whether the increase of carotid intima- media thickeness(cIMT) as one of premature pathologic changes of atherosclerosis, was present in obese children compared to normal weight children. Methods : The obese group consisted of 21 obese/overweight(body mass index(BMI) above 85 percentile of age, sex standards) children and the control group of...
A Cost-benefit Analysis on Neonatal Screening of Phenylketonuria and Congenital Hypothyroidism in Korea
Hoe Cheol Yoon, Nyeon Cheon Kim, Dong Hwan Lee
Clin Exp Pediatr. 2005;48(4):369-375.   Published online April 15, 2005
Purpose : Many inborn errors of metabolism can be completely cured with early detection and early treatment. This is why neonatal screening on inborn errors of metabolism is implemented worldwide. In this study, a cost-benefit analysis was performed on the neonatal screening of phenylketonuria and congenital hypothyroidism in Korea. Methods : This study included 2,908,231 neonates who took the neonatal screening...
Trend of Obesity in School Age Children in Seoul Over the Past 23 Years
Young Shin Park, Dong Hwan Lee, Joong-Myung Choi, Yun Ju Kang, Chong Hee Kim
Clin Exp Pediatr. 2004;47(3):247-257.   Published online March 15, 2004
Purpose : The aim of this study was to evaluate the change in prevalence and the epidemiology of obesity in school age children of Seoul, Korea during the last 23 years with coherency and under the same standards. Methods : We used the new 1998 standard weight for height to calculate obesity on the personal data from five years and produced...
Case Report
A Case of Keratitis, Ichthyosis and Deafness(KID) Syndrome
Lan Kim, Dong Hwan Lee
Clin Exp Pediatr. 2003;46(11):1135-1138.   Published online November 15, 2003
KID syndrome was named after the initials of the major three symptoms of the disease; keratitis, ichthyosis, and deafness. The syndrome was first introduced by Dr. Burns in 1915 who described one of his patients with those symptoms. In 1981, Dr. Skinner and his colleagues reported 17 patients who had keratitis, ichthyosis, and deafness. They also called the disease KID...
Original Article
Galactosemia Detected by Neonatal Screening Test
Il Sung Park, Hye Jung Cho, Dong Hwan Lee, Jung Hwan Song
Clin Exp Pediatr. 2003;46(5):440-446.   Published online May 15, 2003
Purpose : The genetic disturbance of galactosemia is expressed as a cellular deficiency of either galactose-1-phosphate uridyltransferase(GALT) or galactokinase(GALK) or UDP galactose 4-epimerase(GALE). To find-out the pattern of galactosemia in Korea, we retrospectively analyzed cases of galactosemia detected by neonatal screening program. Methods : We analyzed medical records of patients who visited Soonchunhyang University Hospital at age of 1...
Case Report
Two Cases of HHH Syndrome in Siblings
Min Ho Hwang, Bo Sun Kim, Dong Hwan Lee
Clin Exp Pediatr. 2001;44(10):1206-1210.   Published online October 15, 2001
Hyperornithinemia-hyperammonemia-homocitrullinuria(HHH) syndrome is a rare autosomal recessive disorder caused by a defect in the urea cycle. Protein intolerance, mental retardation, seizure, ataxia, and stupor are characteristic symptoms. Patients showing these symptoms may also present symptoms of acute hepatic disease at the same time. When fed with a high protein diet, they may refuse to eat, vomit, become lethargic, or go...
Isovaleric Acidemia in Siblings Diagnosed by Organic Acid Analysis
Kyung Soo Cheon, Dong Hwan Lee
Clin Exp Pediatr. 2000;43(6):828-831.   Published online June 15, 2000
Isovaleric acidemia is an inborn error in metabolism due to a defect in isovaleryl-CoA dehydrogenase. Accumulation of serum isovaleric acid causes poor feeding, vomiting, lethargy, hypothermia, convulsion, mental retardation, etc. It is inherited as an autosomal recessive trait. Since the first reports of isovaleric acidemia by Tanaka et al in 1966, more than 60 cases have been reported. There are...
Original Article
Comparison between Thyroid Function Test and Radiographic Size of Knee Epiphysis in Neonates with Congenital Hypothyroidism
An Sung Koh, Jae Ock Park, Dong Hwan Lee
Clin Exp Pediatr. 1999;42(8):1130-1135.   Published online August 15, 1999
Purpose : Biochemical confirmation of congenital hypothyroidism takes about 10 days, which may result in a delay in diagnosis. The delay could be reduced if a faster method of investigation such as knee radiograph is used. The aim of this study is to assess the value of plain radiography of the knee in providing supportive evidence for the diagnosis of...
Case Report
A Case of Congenital Intestinal Lymphangiectasia
Pan Joo Lim, Jae Ock Park, Dong Hwan Lee, Sang Mann Shin, Dong Won Ki
Clin Exp Pediatr. 1998;41(9):1293-1298.   Published online September 15, 1998
Intestinal lymphangiectasia is a primary or secondary disorder of lymphatics which is associated with protein-losing enteropathy, hypoalbuminemia, edema, abdominal distension and growth failure. The patients with this disease lose albumin, immunoglobulins, and lymphocytes through the bowel. We have experienced one case of intestinal lymphangiectasia in 8 month-old boy, whose chief complaint was abdominal distension and watery diarrhea. He had hypoalbuminemia(1.7gm/dl)....
Original Article
Gastroesophageal Reflux Disease in Children with Chronic Cough
Pan Joo Lim, Jae Ock Park, Dong Hwan Lee, Sang Mann Shin, Dong Won Kim
Clin Exp Pediatr. 1998;41(9):1234-1242.   Published online September 15, 1998
Purpose : We investigated the incidence of gastroesophageal reflux disease(GERD) by 24-hour esophageal pH monitoring in patients who had chronic cough for more than 3 weeks. Methods : From January 1995 to August 1996, 33 patients with chronic cough which had lasted for more than 3 weeks were enrolled in the 24-hour esophageal pH monitoring. The result was interpreted with the...
Conversion Rates of Tuberculin Test according to BCG Vaccination Methods
Woo Sung Kim, Chang Hwi Kim, Dong Hwan Lee, Sang Mann Shin
Clin Exp Pediatr. 1997;40(4):489-496.   Published online April 15, 1997
Purpose : Tuberculosis, a major public health problem, is an important cause of childhood morbidity and mortality in developing countries. To decline the tuberculosis morbidity rate, active BCG vaccination is performed worldwide. Recently percutaneous multiple puncture technique of BCG vaccination was introduced and used because of side effects of intradermal BCG vaccination such as scar, local ulceration, regional suppurative lymphadenitis....
Electroencephalogram in Phenylketonuria
Sang Hyun Kim, Eun Sook Suh, Dong Hwan Lee
Clin Exp Pediatr. 1997;40(1):13-20.   Published online January 15, 1997
The Influence of the Use of Iodine during Perinatal Period on the Screening Test for Congenital Hypothyroidism
Gyu Bum Cho, Dong Hwan Lee, Sang Jhoo Lee
Clin Exp Pediatr. 1996;39(2):195-206.   Published online February 15, 1996
Purpose : This study was performed to detect the diseases of congenital hypothyroidism by the neonatal mass screening test early and to demonstrate the possible role of topical iodinated antiseptics(povidone-iodine, PVP-Ⅰ) on transient hyperthyrotropinemia in newborn infants. Methods : We performed neonatal screening tests for inborn errors of metabolism since 1985 by Guthrie test for PKU, maple syrup urine disease, histidinemia,...
Serum Vitamin A Leveland Immunization Status in Serologically Confirmed Measles Patients
Kyung Hwa Park, Seung Hee Choe, Chang Hwi Kim, Dong Hwan Lee, Sang Mann Shin, Sang Jhoo Lee
Clin Exp Pediatr. 1996;39(2):187-194.   Published online February 15, 1996
Purpose : To know the relationship between serum vitamin A level and clinical symptoms in measles patients and to re-evaluate the measles vaccination schedule, we performed this study. Methods : From Jan. to Jun. 1994, we checked serum vitamin A levels and compared with clinical symptoms, laboratory findings, complications and vaccination status in 153 patients with positive measles IgM by ELISA. Results :...
Upper Limit of Normal Value for Antistreptolysin O Titer of Healthy Children in Seoul
Sung Ho Cha, Yong Mook Choi, Sei Won Yang, Dong Hwan Lee, Chong Guk Lee, Chang Ho Hong
Clin Exp Pediatr. 1995;38(8):1061-1068.   Published online August 15, 1995
Purpose : We have found somewhat high titer of antistreptolysin O (ASO) accidentally when we had delineated normal carrier rate of beta hemolytic streptococci in rural area of Kangwon Province in 1991(1). We would like to know upper limit of normal value of ASO and re-valuated results which might be changed with different geographic areas, age, and prevalent rate...
Case Report
A Case of Congenital Lipoid Adrenal Hyperplasia
Hae Kyung Lee, Dong Hwan Lee, Sang Jhoo Lee
Clin Exp Pediatr. 1995;38(4):567-573.   Published online April 15, 1995
Congenital lipoid adrenal hyperplasia is the rarest type among salt losing types of congenital adrenal hyperplasia. The defect of this disorder is in the cholesterol side chain cleavage enzyme(P450SCC)which converts cholesterol to pregnenolone. We experienced a case of 20,22 desmolse deficiency in a 21-day old phenotypically female who was admitted to our hospital due to lethargy and dark skin pigmentation. The...
A Case of Sjören-Larsson Syndrome
Kil Joon Lee, Jong Bock Kim, Dong Hwan Lee, Sang Man Shin, Sang Jhoo Lee
Clin Exp Pediatr. 1994;37(12):1757-1761.   Published online December 15, 1994
Sjören-Larsson Syndrome is a rare disorder chracterized by congenital icthyosis, spastic diplegia or tetraplegia and mental retardation. The inheritance is autosomal recessive, due to deficiency of alcohol dehydrogenase activity of fatty acid matabolism. We have experienced a case of Sjören-Larsson Syndrome in a 16 month-old male children who have dried thick skin, developmental delay, and spastic diplegia. He was much improved clinically...
Original Article
Pterin & DHPR Measurement and DNA Analysis in Korean PKU Patients
Chol Hee Chong, Hye Yong Lee, Dong Hwan Lee, Sang Jhoo Lee, Ki Weon Cha, Jeong Bin Yim, Yoshiyuki Okano
Clin Exp Pediatr. 1993;36(12):1681-1690.   Published online December 15, 1993
Phenylketonuria in metabolic disorder that results from a deficiency of the hepatic phenylalanine hydroxylase. But among patients with hyperphenylalaninemia, the defect resides in one of the enzymes necessary for production or recycling of tetrahydrobiopterin (BH4). The reduction of BH4 affects not only phenylalanine metabolism but also formation of the tyrosine related neurotransmitter, dopamin and tryptophan related neurotransmitter, serotonin. Administration of L-dopa...
Case Report
A Case of Syndrome Associated with Colonic Atresia
Si Whan Koh, Joon Soo Park, Kyung Hwan Oh, Dong Hwan Lee, Sang Jhoo Lee, Chul Moon
Clin Exp Pediatr. 1993;36(7):1030-1033.   Published online July 15, 1993
The association of colonic atresia in patients with Down syndrome is a rare anomaly. The incidence of congenital atresia of the gastrointestinal tract has been estimated to be about one in 1500 births. Colonic atresia is rarer still, and is throut to comprise about 5% to 10% of this group. This intestinal atresia occurs in about 30% to 50% of...
A Case of Laryngeal Cleft
Yong Sik Min, Hye Kyu, Jun Soo Park, Dong Hwan Lee, Sang Jhoo Lee, Hyun Sook Hong
Clin Exp Pediatr. 1993;36(7):1016-1024.   Published online July 15, 1993
Laryngotracheoesophageal cleft is a rare congenital anomaly characterized by a midline defect of variable length between the posterior larynx and trachea and the anterior wall of the esophagus which was first reported by Richter in 1792. The male, birth weight 2780 gm, was born our hospital. After birth the infant breathed spontaneously, cried immediately but weak and did well initially but...
A Case of Neonatal Hypothyroidism due to Maternal TSH-Binding Inhibitor Immunoglobulin
Myung Lye Kim, Rhie Choi, Dong Hwan Lee, Sang Jhoo Lee
Clin Exp Pediatr. 1992;35(6):804-808.   Published online June 15, 1992
Neonatal screening for congenital hypothroidism is important because of the possibility that mental retardation may be avoided if treatment started early. A 1 day old patient was admitted to our department of Pediatrics for congenital hypothyroidism screening. The mother was 33 years old and had been on thyroid replacement therapy since 32 years of age. During the pregnancy she was euthyroid...
Original Article
A Clinical Study in Phenylketonuria
Hye Kyeong Nam, Jin Seop Shim, Dong Hwan Lee, Sang Jhoo Lee, Ki Weon Cha, Jeong Bin Yim
Clin Exp Pediatr. 1992;35(1):69-79.   Published online January 15, 1992
Thirteen cases of phenylketonuria who were diagnosed at department of pediatrics, Soonchunhyang University Hospital, and four cases at other hospitals and other countries from July, 1984 to April, 1991 were reviewed and analyzed. The results were as follow: 1) All 17 cases were between the age of 3 days and 19 years, and the male to female ratio was 1.43:1. 2)...
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