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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...
Thyroid dysfunction in very low birth weight preterm infants
Ji Hoon Lee, Sung Woo Kim, Ga Won Jeon, Jong Beom Sin
Clin Exp Pediatr. 2015;58(6):224-229.   Published online June 22, 2015
Purpose

Thyroid dysfunction is common in preterm infants. Congenital hypothyroidism causes neurodevelopmental impairment, which is preventable if properly treated. This study was conducted to describe the characteristics of thyroid dysfunction in very low birth weight infants (VLBWIs), evaluate risk factors of hypothyroidism, and suggest the reassessment of thyroid function with an initially normal thyroid-stimulating hormone (TSH) as part of a newborn...

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%)...

Case Report
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene
Won Ik Choi, Ji Hye Kim, Han Wook Yoo, Sung Hee Oh
Clin Exp Pediatr. 2010;53(12):1018-1021.   Published online December 31, 2010

Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnormalities, hypoplasia of the thumb, and radial bone abnormalities, which are not usually associated with TBS, help in the differential diagnosis...

Original Article
Reevaluation of the Neonatal Screening Test for Congenital Hypothyroidism
So Young Kang, Young Pyo Chang, Jeesuk Yu
Clin Exp Pediatr. 2005;48(4):387-394.   Published online April 15, 2005
Purpose : We performed this study to compare the TSH and free T4 levels according to gestational age and birth weight, and to reevaluate the cut-off values in the neonatal screening test for congenital hypothyroidism. Methods : Total 2,133 neonates(1,749 healthy newborns and 384 sick neonates) were screened in Dankook University Hospital from May 2000 to January 2003. Neonates with abnormal...
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...
The Correlation Between the TSH Level in Neonatal Screening Test and the Prognosis of Congenital Hypothyroidism
Hong Sun Park, Kye Shik Shim, Kyuchul Choeh
Clin Exp Pediatr. 2001;44(1):25-31.   Published online January 15, 2001
Purpose : It is important to diagnose and treat newborn patients with congenital hypothyroidism as soon as possible because of neurodevelopmental outcome. If we can detect more severe forms of congenital hypothyroidism with neonatal screening test, the results of treatment will improve. Methods : Sixty-four term infants whose TSH levels in neonatal screening test had been higher than 20μIU were recalled....
Follow up of Infants with Congenital Hypothyroidism Who were Detected by Newborn Screening Test
Kyung Ah Kim, Eun Sil Lee, Son Moon Shin, Han Ku Moon, Yong Hoon Park
Clin Exp Pediatr. 1999;42(8):1141-1148.   Published online August 15, 1999
Purpose : Developmental delay in congenital hypothyroidism can be prevented by early detection and treatment. We conducted a follow-up study to assess the growth and development of infants with congenital hypothyroidism who were detected by newborn screening test and received thyroid hormone therapy. Methods : Nineteen hypothyroid infants were detected by newborn screening test from April 1995 to May 1997. Measurements...
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...
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,...
Re-evaluation of TSH Screening TEST in Neonates
Jin Young Song, Dong Woo Son, Beyong Il Kim, Sei Won Yang, Jung-Hwan Choi, Chong Ku Yoon, Hyung Ro Moon
Clin Exp Pediatr. 1993;36(11):1502-1506.   Published online November 15, 1993
Five years ago, we made the cut-off value of TSH by dry filter paper method as 15μU/ml to screening congenital hypothyrodism. Since then, 1,210 term neonates, who had no perinatal problems, screening test with this cut-off point. Neonates had been recalled for measurement of serum T4/TSH to rule out congenital hypothyroidism if their TSH value by screening tests reveal more...
Case Report
A Case of Congenital Goiter with Congenital Hypothyroidism due to Organification Defect
Ik Hee Lee, Sung Yong Jung, Thi Hyung Park, Sa Jun Chung, Chang Il Ahn
Clin Exp Pediatr. 1993;36(7):1002-1008.   Published online July 15, 1993
We experienced a case of congenital goiter with congenital hypothyroidism in 45 dayold male, who complained of respiratory difficulty and anterior neck mass. After admission, he was diagnosed congenital hypothyroidism by the clinical manifestations and laboratory tests including biochemistry, radioimmunoassay, radioisotope study, perchlorate discharge test, and bone radiography. We obtained positive finding at the perchlorate discharge test and found that his...
Original Article
Growth Outcome in Congenital Hypothyroidism
Mi Jung Park, Ho Seong Kim, Duk Hi Kim
Clin Exp Pediatr. 1993;36(5):713-720.   Published online May 15, 1993
Congenital hypothyroidism is one of the most common endocrine disease in childhood and it causes not only mental retardation but also growth retardation. There were many papers about evaluation of developmental outcome in congenital hypothyroidism, The aim of this study was to evaluate growth outcome in congenital hypothyroidism. We evaluated 65 patients with congenital hypothyroidism diagnosed at yonsei University College...
Clinical Observation on isolated TRH deficient Congenital Hypothyroidism.
Heon Seok Han, Hyung Ro Moon
Clin Exp Pediatr. 1990;33(10):1388-1393.   Published online October 31, 1990
Clinical features and endocrine function of 3 children with isolated TRH deficient congenital hypothyroidism followed at Seoul National University Children’s Hospital from Aug, 1986 to Aug. 1990 were reviewed. During above period 262 congenital hypothyroid patients were followed at endocrine clinic, number of congenital primary hypothyroidism was 218 cases (83.2%), and that of congenital secondary hypothyroidism was 44 cases (16.8%). Of the congenital primary hypothyroidism,...
A Case of Congenital Hypothyroidism.
Woo Hyon Kwon, Soon Young Song, Chang Ho Han, Hyae Ri Chung, Soo Yong Kim, Young Dae Kwon
Clin Exp Pediatr. 1990;33(5):708-713.   Published online May 31, 1990
Recently, we experienced a case of congenital hypothyroidism in 3month-old girl, who came with chief complaints of prolonged jaundice for 2 months after birth. After admission, she was diagnosed congenital hypothyroidism by the laboratory tests, including biochemistry, radioimmunoassay, radioisotope study, and bony radiography, and since then treated with sodium-L-thyroxine orally. The case was presented with brief review of literatures.
Prognosis according to Etiology and Age at Diagnosis in Congenital Hypothyroidism.
Myoung Sook Nam, Young Jong Oh, Byung Hee Kim, Young Jong Woo, Young Youn Choi, Tai Ju Hwang
Clin Exp Pediatr. 1990;33(4):506-513.   Published online April 30, 1990
A retrospective study on patients with congenital hypothyroidism was undertaken. The following results were obtained from 17 patients, on whom follow up investigations were available. 1) Males outnumbered females. The etiologic classification revealed: thyroid agenesis (64.7%), dyshormonogenesis (23.5%), and ectopic thyroid (11.8%). 2) In two-thirds of cases the diagnosis were made under 1 year of age, with 23.5% of cases being diagnoses below 3 month and 41.2%...
Two Siblings of Congenital Hypothyroidsm due to Organification Defect.
Young Kie Park, Kwang Sun Park, Byung Churl Lee
Clin Exp Pediatr. 1989;32(4):582-588.   Published online April 30, 1989
Congenital hypothyroidism due to a variety of defects in the biosynthesis of thyroid hormone is detected in 1/30,000-50,000 live births. In the iodide organification defect which is one of defect in the biosynthesis of thyroid hormone, iodide is not organified and may be rapidly discharged from the thyroid by administration of perchlorate. We experienced two siblings who had short stature, goiter, mental retardation, constipation and other...
Normal TSH Levels in Neonates by TSH Screening test.
Jae Won Song, Jong Lin Rhi, Sei Won Yang, Jung Hwan Choi, Chong Ku Yun, Hyung Ro Moon, Bo Youn Cho, Chang Soon Koh
Clin Exp Pediatr. 1988;31(6):754-761.   Published online June 30, 1988
In 110 term neonates without perinatal problems who were bom in SNUH, blood TSH levels were measured by TSH screening test for congenital hypothyroidism. The results are as follows 1) Normal TSH level was 14.8±7.8 µU/ml, 8.8±4.7 µU/ml, and 6.5±2.7 µU/ml in neonates of age 0 〜24 hours, 24—48 hours, and 48〜72 hours respectively, and all TSH values in neonates of age 48〜72 hours were...
Clinical Study of Congenital Hypothyroidism.
Byung Churl Lee, Soon Joo Lee, Sung Hoon Cho
Clin Exp Pediatr. 1987;30(12):1401-1408.   Published online December 31, 1987
We reviewed 24 patients with congenital hypothyroidism to observe the etiology, clinical symptoms and signs, bone age, height age, the degree of mental retardation and growth velocity after treatment form Jan. 1983 to June 1987. The results were as follows: 1) The male to female ratio was about 1:3.8. The cases diagnosed under 1 year old were only 12.5%. 2) In etiologic classification, thyroid dysgenesis...
Case Report
3 Cases of Congenital Hypothyroidism.
Chul Hwan Park, Moo Young Oh, Tae Gyu Hwang, Soon Yong Lee, Yeon Soon Kim
Clin Exp Pediatr. 1987;30(3):320-326.   Published online March 31, 1987
We observed 3 cases of congenital hypothyroidism. A 43-day-old girl, a 372-month-old boy and a 5-year-old girl were presented. The causes were thyroid agenesis of case I, defective TSH receptor (suspect) of case II and undetermined in case III respectively. The diagnosis was made by clinical manifestations, thyroid function test, A brief review of literatures was made.
A Case Study of Conjenital Hypothyroidism.
Youn Suk Chung, Tae Sook Song, Ho Jin Park, Mi Ja Shin
Clin Exp Pediatr. 1985;28(3):283-287.   Published online March 31, 1985
Congenital hypothyroidism is one of the important causes of retardation of growth and development. A 4 year 2 month old male patient was admitted to our department of Pediatrics, who showed marked growth failure and developmental retardation. Congenital hypothyroidism was suspected by history and physical examination, and confirmed by thyroid function test and thyroid scan, which showed ectopic lingual thyroid. A brief...
A Case Study of Congenital Hypothyroidism Caused by Ectopic Thyroid.
Eui Soo Park, Sang Hee Cho, Gwi Jong Choi, Chong Moo Park, Suk Shin Cho
Clin Exp Pediatr. 1983;26(8):803-807.   Published online August 31, 1983
Congenital hypothyroidism can be caused by ectopic thyroid which classified as aberrant type and accesory type. The authors eyperienced a case, having congenital hypothyroidism caused by ectopic thyroid (lingual thyroid) which confirmed by abnormal physical findings, biochemical studies, radio- logical studies, radioisotope uptake test and thyroid scintigram, in 1 year and 7 months old age female patients with chief problems of growth retardation. A brief review...
A Case of 18p- Syndrome with Congenital Hypothyroidism.
Ji Young Kang, In Soon Lee, Woon Sik Kim
Clin Exp Pediatr. 1983;26(1):102-105.   Published online January 31, 1983
We have experienced a case of 18p- syndrome with congenital hypothyroidism in a 16-month-old girl who had microcephaly, flat nasal bridge, failure to thrive, left inguinal hernia and umbilical hernia. The diagnosis was confirmed by physical findings, cytogenetic study, thyroid function test and thyroid scanning. The review of the related literature was made briefly.
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