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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...
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