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Case Report
Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C
Keun Hee Choi, Choong Ho Shin, Sei Won Yang, Hae Il Cheong
Clin Exp Pediatr. 2015;58(4):148-153.   Published online April 22, 2015

The calcium sensing receptor (CaSR) plays an important role in calcium homeostasis. Activating mutations of CaSR cause autosomal dominant hypocalcemia by affecting parathyroid hormone secretion in parathyroid gland and calcium resorption in kidney. They can also cause a type 5 Bartter syndrome by inhibiting the apical potassium channel in the thick ascending limb of the loop of Henle in the...

Original Article
Urinary 6-sulfatoxymelatonin level in girls and its relationship with obesity
Jieun Lee, Juyoung Yoon, Jin A Lee, Seong Yong Lee, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2012;55(9):344-349.   Published online September 14, 2012
Purpose

Short sleep duration is associated with obesity. Urinary 6-sulfatoxymelatonin (6-OHMS), the principal metabolite of melatonin, is closely related with sleep. We evaluated the difference in urinary 6-OHMS levels between obese girls and normal weight girls, and the relationship of urinary 6-OHMS with other hormones regulating body weight and metabolism.

Methods

A total of 79 girls (6.3 to 12.4 years) were included in...

Excess of leptin inhibits hypothalamic KiSS-1 expression in pubertal mice
Sung Yeon Ahn, Sei Won Yang, Hee Jae Lee, Jong Seon Byun, Ji Yeon Om, Choong Ho Shin
Clin Exp Pediatr. 2012;55(9):337-343.   Published online September 14, 2012
Purpose

Leptin has been considered a link between metabolic state and reproductive activity. Defective reproductive function can occur in leptin-deficient and leptin-excessive conditions. The aim of this study was to examine the effects of centrally injected leptin on the hypothalamic KiSS-1 system in relation to gonadotropin-releasing hormone (GnRH) action in the initial stage of puberty.

Methods

Leptin (1 µg) was injected directly into...

Prevalence and risk factors of the metabolic syndrome in young adults with childhood-onset hypopituitary growth hormone deficiency
Han Hyuk Lim, Min Jae Kang, In Suk Yun, Young Ah Lee, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2010;53(10):892-897.   Published online October 31, 2010
Purpose

This study evaluated the prevalence of the metabolic syndrome (MetS) and risk factors for metabolic derangement in young adults with childhood-onset hypopituitary growth hormone deficiency (ACOHGHD).

Methods

Thirty patients with ACOHGHD who were treated with hormone-replacement therapy, aged 18 to 29 years, who visited the Seoul National University Children's Hospital between September 2009 and February 2010 were enrolled. Height, weight, waist circumference,...

Remission rate and remission predictors of Graves disease in children and adolescents
Sun Hee Lee, Seong Yong Lee, Hye Rim Chung, Jae Hyun Kim, Ji Hyun Kim, Young Ah Lee, Sei Won Yang, Choong Ho Shin
Clin Exp Pediatr. 2009;52(9):1021-1028.   Published online September 15, 2009
Purpose : Medical therapy is the initial treatment for children with Graves disease to avoid complications of other treatments. However, optimal treatment for childhood Graves disease is controversial because most patients require relatively long periods of medical therapy and relapse is common after medication discontinuation. Therefore, this study aimed to search clinical or biochemical characteristics that could be used as...
Growth responses to growth hormone therapy in children with attenuated growth who showed normal growth hormone response to stimulation tests
Jae Hyun Kim, Hey Rim Chung, Young Ah Lee, Sun Hee Lee, Ji Hyub Kim, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2009;52(8):922-929.   Published online August 15, 2009

Purpose:The aim was to investigate the clinical characteristics and responses to growth hormone (GH) therapy in children with attenuated growth who showed normal GH responses to GH stimulation tests (GHST). Methods:The study included 39 patients with height velocity (HV) of less than 4 cm/yr and normal GHST results. Clinical characteristics of patients were analyzed retrospectively. Results:Eleven were born as small for gestational age (SGA)...
Development of metabolic syndrome and its correlation with insulin resistance in adult patients with Turner syndrome
Joo Hwa Kim, Min Jae Kang, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2009;52(3):370-375.   Published online March 15, 2009
Purpose : The risk of metabolic syndrome (MS) and cardiovascular disease in Turner syndrome (TS) patients is high. We analyzed metabolic factors in adults with TS and evaluated the metabolic risk of insulin resistance. Methods : Forty-three adults with TS were enrolled. The frequency of MS and the values of the metabolic factors were analyzed. Patients were divided into insulin...
Factors for persistent growth hormone deficiency in young adults with childhood onset growth hormone deficiency
Young Ah Lee, Hye Rim Chung, Se Min Lee, Jae Hyun Kim, Ji Hyun Kim, Sun Hee Lee, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2009;52(2):227-233.   Published online February 15, 2009
Purpose : Growth hormone (GH) replacement after retesting is necessary because impairment of body composition and cardiovascular health has been more severe in adult patients with persistent GH deficiency (GHD) from childhood to adulthood. This study aimed to investigate the factors for persistent GHD and define a highly probable group of persistent GHD in young adults with childhood-onset GHD. Methods :...
A study of the development of macrovascular complications and factors related to these complications in young adults with childhood/adolescence-onset type 1 diabetes mellitus
Min Jae Kang, Joo Hwa Kim, Hye Rim Chung, Young Ah Lee, Choong Ho Shin, Sei Won Yang, You Yeh Kim, Seon Mi Jin, Chung Il Noh
Clin Exp Pediatr. 2009;52(2):220-226.   Published online February 15, 2009
Purpose : Macrovascular complications are the main cause of mortality in type 1 diabetes mellitus (T1DM). The purpose of this study was to clarify the presence of early vascular changes and to assess the risk factors of macrovascular complications in young adults with T1DM diagnosed in childhood and adolescence. Methods : Seventy-two patients (23.9¡¾2.4 years) with T1DM diagnosed before 18 years...
Case Report
A case of testicular adrenal rest tumor in a male child with congenital adrenal hyperplasia
Joo Hwa Kim, Kyong Ah Yun, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2008;51(9):1018-1022.   Published online September 15, 2008
Testicular adrenal rest tumors are a well-known complication in male patients with congenital adrenal hyperplasia. Corticosteroid suppressive therapy usually results in the regression of these tumors. We describe a patient with 21-hydroxylase deficiency who developed bilateral testicular masses. Despite steroid suppressive therapy, the tumors did not regress and hormonal control was poor. Consequently, bilateral partial orchiectomies were performed.
Erratum
ERRATUM: Epidemiologic characteristics of type 1 diabetes in children aged 14 years or under in Korea, 1985-2000.
Choong Ho Shin
Clin Exp Pediatr. 2008;51(8):896-897.   Published online August 15, 2008
Case Report
A case of simultaneously identified glycogen storage disease and mucopolysaccharidosis
Ju Young Lee, Jeong Ok Shim, Hye Ran Yang, Ju Young Chang, Choong Ho Shin, Jae Sung Ko, Jeong Kee Seo, Woo Sun Kim, Gyeong Hoon Kang, Jeong Han Song, Jong Won Kim
Clin Exp Pediatr. 2008;51(6):650-654.   Published online June 15, 2008
Glycogen storage disease (GSD) and mucopolysaccharidosis (MPS) are both independently inherited disorders. GSD is a member of a group of genetic disorders involving enzymes responsible for the synthesis and degradation of glycogen. GSD leads to abnormal tissue concentrations of glycogen, primarily in the liver, muscle, or both. MPS is a member of a group of inherited lysosomal storage diseases, which...
Original Article
Interpretation of screening for congenital adrenal hyperplasia in preterm infants
Hye Rim Chung, Choong Ho Shin, Sei Won Yang, Kyong Ah Yun, Young Ah Lee, So Eun Park, Chang Won Choi, Byung Il Kim, Jung Hwan Choi, Junghan Song
Clin Exp Pediatr. 2008;51(6):616-621.   Published online June 15, 2008
Purpose : This study was undertaken to identify factors that influence 17-OHP levels in preterm infants and to suggest a reasonable follow-up schedule of screening for congenital adrenal hyperplasia (CAH) in preterm infants. Methods : The 17-OHP concentrations in filter paper blood spots of 427 preterm infants were obtained. The effects of gestational age (GA), systemic diseases, and antenatal dexamethasone...
Review Article
Epidemiologic characteristics of type 1 diabetes in children aged 14 years or under in Korea, 1985-2000
Choong Ho Shin
Clin Exp Pediatr. 2008;51(6):569-575.   Published online June 15, 2008
Type 1 diabetes mellitus (T1DM) develops in genetically susceptible individuals as a result of progressive autoimmune destruction of beta cells. There is a large global variation in incidence among children aged 0-14 years. The incidence of T1DM in Korea is very low. The latest survey in Korea was conducted in 2001 by the Korean Society of Pediatrics to analyze ...
Case Report
Pheochromocytoma associated with cyanotic congenital heart disease
Seung Joon Chung, Young Ah Lee, Choong Ho Shin, Sei Won Yang, Eun Jung Bae, Jung Il Noh
Clin Exp Pediatr. 2008;51(1):93-97.   Published online January 15, 2008
Pheochromocytoma is a rare tumor of childhood, arising from adrenal medullary and chromaffin tissue. Because chronic hypoxia may induce pheochromocytoma, there have been several reports of pheochromocytoma development in cyanotic patients after corrective or palliative cardiac surgery. The variable clinical presentation of pheochromocytoma is obscured by both underlying heart disease and medications. If sudden hypertension, aggravation of a heart condition,...
Original Article
Clinical, endocrinological and radiological courses in patients who was initially diagnosed as idiopathic central diabetes insipidus
Seung Joon Chung, Seong Yong Lee, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2007;50(11):1110-1115.   Published online November 15, 2007
Purpose : Idiopathic central diabetes insipidus (CDI) is defined in CDI patients without definite etiology. Some patients initially diagnosed as idiopathic CDI progressed to organic causes. We reviewed clinical, endocrinological, and radiological courses of 20 patients who was initially diagnosed as idiopathic CDI, to assess the predicting factors for progression to brain tumors. Methods : We reviewed the medical data and...
A study and the growth and the development of microvascular complications in patients with type 1 diabetes mellitus
Young Ah Lee, Kyong-Ah Yun, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2007;50(2):190-197.   Published online February 15, 2007
Purpose : Reduced growth and microvascular complications have been recognized as consequences of type 1 diabetes mellitus (T1DM). We assessed the effect of T1DM on growth and factors associated with the development of microvascular complications. Methods : We conducted a retrospective longitudinal evaluation of 154 patients above 16 years of age. We analyzed factors which affect final height standard deviation scores...
Factors affecting the final adult height in survivors of childhood brain tumors
Kyong-Ah Yun, Young Ah Lee, Choong Ho Shin, Sei Won Yang, Hee Young Shin, Hyo Seop Ahn, Il Han Kim
Clin Exp Pediatr. 2007;50(1):65-73.   Published online January 15, 2007
Purpose : Short stature is an important complication that impairs the quality of life in survivors of childhood brain tumors. We studied their final adult height (FAH) to evaluate risk factors for short stature. Methods : We reviewed the medical data of 95 survivors of childhood brain tumors (64 males and 31 females) who had been followed up from 1982 to...
Review Article
Current use of growth hormone in children
Choong Ho Shin
Clin Exp Pediatr. 2006;49(7):703-709.   Published online July 15, 2006
Since the advent of growth hormone(GH), children with a wide variety of growth disorders have received GH treatment. In GH deficiency(GHD), Turner syndrome, chronic renal failure, children born small for gestational age, Prader-Willi syndrome, and idiopathic short stature, the therapeutic effects and safety profile of GH are reviewed. GH therapy has been clearly shown to improve height velocity and final...
Case Report
A case of Rothmund-Thomson syndrome
Seung Hyo Kim, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2006;49(5):565-569.   Published online May 15, 2006
Rothmund-Thomson syndrome (RTS), is a rare autosomal recessive disorder, characterized by : skin photosensitivity, poikiloderma, sparse hair, sparse eyebrows/lashes, short stature, skeletal abnormalities, cataracts, and an increased risk of malignancy. Skeletal abnormalities include : dysplasia, absent or malformed bones, such as absent radii, osteopenia, and delayed bone formation. RTS is thought to result from chromosomal instability, and children with RTS...
Original Article
Endocrine dysfunction and growth in children with medulloblastoma
In Suk Yoon, Ji Young Seo, Choong Ho Shin, Il Han Kim, Hee Young Shin, Sei Won Yang, Hyo Seop Ahn
Clin Exp Pediatr. 2006;49(3):292-297.   Published online March 15, 2006
Purpose : In medulloblastoma, craniospinal radiation therapy combined with chemotherapy improves the prognosis of tumors but results in significant endocrine morbidities. We studied the endocrine morbidity, especially growth pattern changes. Methods : The medical records of 37 patients with medulloblastoma were reviewed retrospectively for evaluation of endocrine function and growth. We performed the growth hormone stimulation test in 16 patients whose...
Case Report
Hyperthyroidism Caused by a Mutation in the Thyrotropin Receptor Gene in Two Brothers
Jae Hyun Kim, Sung Soo Lee, Jung Sub Lim, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2005;48(3):337-341.   Published online March 15, 2005
Thyrotropin receptor(TSHR) mutations must be considered when congenital hyperthyroidism has persisted, but there has been no evidence for autoimmunity. TSHR mutations leading to constitutive activation of the thyroid gland were identified as the molecular cause of autosomal dominant nonautoimmune hyperthyroidism and sporadic congenital hyperthyroidism. We report two cases of hyperthyroidism caused by germline TSHR mutation who presented with exessive sweating...
Original Article
Clinical Characteristics of Autoimmune Thyroid Disease Developed in Patients with Type 1 Diabetes Mellitus
Se Min Lee, Hye Rim Chung, Su Young Hong, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2005;48(3):292-297.   Published online March 15, 2005
Purpose : It is known that 3-50 percent of type 1 diabetes mellitus(T1DM) patients develop autoimmune thyroid disease. We analyzed the clinical characteristics of autoimmune thyroid disease(AITD) developed in patients with T1DM in Korean. Methods : The medical records of 139 patients, who were followed up in Department of Pediatrics, Seoul National University Children's Hospital from Jan. 1981 to Jul. 2004,...
Factors Affecting Final Adult Height in Patients with Turner Syndrome
Jae Hyun Kim, Sung Soo Lee, Su Young Hong, Hye Rim Chung, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2005;48(2):191-196.   Published online February 15, 2005
Purpose : Short stature is one of the characteristic features of Turner syndrome. We investigated the factors affecting final adult height(FAH) in patients with Turner syndrome. Methods : The study group was comprised of 60 patients who were diagnosed with Turner syndrome by chromosomal study and clinical phenotypes and attained FAH. Data were obtained from retrospective review of the medical records....
Factors Affecting the Increments of Body Mass Index in Adult Survivors of Childhood Brain Tumors
Jae Ho Yoo, Sung Yeon Ahn, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2004;47(9):970-977.   Published online September 15, 2004
Purpose : The purpose of this study was to evaluate the factors affecting the increments of body mass index(BMI) in adult survivors from childhood brain tumors. Methods : We retrospectively reviewed medical records of 63 patients who were diagnosed with brain tumors and treated at Seoul National University Children's Hospital between 1982 and 2000. We evaluated the factors affecting adult BMI(aBMI)...
The Effects of Gonadotropin-Releasing Hormone Agonists on Final Height and its Related Factors in Patients with True Precocious Puberty
Sung Yeon Ahn, Jae Ho Yoo, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2004;47(6):647-655.   Published online June 15, 2004
Purpose : The aim of this study was to evaluate the effects of treatment with GnRH agonists on final height(FH) and the influencing factors on height gains. Methods : Twenty-five girls and five boys with true precocious puberty, who were treated with GnRH agonists for more than one year and had attained final height, were evaluated retrospectively. We analysed auxological parameters...
Alteration of Bone Metabolism Markers According to the Progression of Puberty
Seong Yong Lee, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2004;47(2):140-149.   Published online February 15, 2004
Purpose : The object of this study is to evaluate bone metabolism in healthy adolescents according to the progression of puberty. Methods : Forty boys(13.9?.7 years) and 42 girls(12.1?.6 years) were classified by Tanner stage (TS) and bone age. Serum levels of osteocalcin(OC) and bone specific alkaline phosphatase(BALP) were measured as bone formation markers. Serum level of C-terminal telopeptide of type...
Clinical Characteristic of Chronic Autoimmune Thyroiditis in Children
Hye Rim Chung, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2004;47(1):76-80.   Published online January 15, 2004
Purpose : Although chronic autoimmune thyroiditis(AIT) is known to progress into overt hypothyroidism in adults, the outcomes of this disorder in pediatric patients are different from those in adults, so it is hard to predict its course. We reviewed clinical characteristics of chronic AIT in children. Methods : The medical records of 94 children, who were diagnosed as AIT, were analyzed,...
Factors Affecting on Final Adult Height and Total Height Gain in Children with Idiopathic and Organic Growth Hormone Deficiency after Growth Hormone Treatment
Im Jeong Choi, Jin Soon Hwang, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2003;46(8):803-810.   Published online August 15, 2003
Purpose : The purpose of this study was to evaluate the factors affecting the final adult height and total height gain in idiopathic and organic growth hormone deficient(GHD) children after growth hormone(GH) treatment. Methods : Thirteen patients with idiopathic GHD and 22 patients with organic GHD who had been treated with GH and attained adult final height were included in this...
The Separate and Combined Effects of Insulin, Dexamethasone and Growth Hormone on the OB Gene Expression and Leptin Secretion from Cultured Human Visceral Adipose Tissue
Il Tae Hwang, Kyung Hee Kim, Jin Soon Hwang, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2003;46(8):795-802.   Published online August 15, 2003
Purpose : We investigated the hormonal control of OB gene expression and leptin secretion in cultured human visceral adipose tissue. Methods : Visceral adipose tissues were cultured for up to 48 hrs in modified Eagle's medium with varying concentration of hormones : Control(no hormone), bovine insulin(100 nM), Dexamethasone(DEX, 100 nM), growth hormone(GH, 40 ng/mL), insulin＋DEX(100 nM each), insulin＋DEX＋GH(100 nM insulin...