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Review Article
Genetic factors in precocious puberty
Young Suk Shim, Hae Sang Lee, Jin Soon Hwang
Clin Exp Pediatr. 2022;65(4):172-181.   Published online October 18, 2021
· Mutations in the kisspeptin (KISS1), kisspeptin receptor (KISS1R), makorin ring finger protein 3 (MKRN3), and delta-like homolog 1 (DLK1) genes are associated with idiopathic central precocious puberty (ICPP).
· A few genes related to pubertal onset have been implicated in ICPP.
· Epigenetic factors such as DNA methylation, histone posttranslational modifications, and noncoding ribonucleic acids may be related to ICPP
The genes associated with gonadotropin-releasing hormone-dependent precocious puberty
Jin Soon Hwang
Clin Exp Pediatr. 2012;55(1):6-10.   Published online January 31, 2012

Human puberty is a complex, coordinated biological process with multiple levels of regulations. The timing of puberty varies greatly in children and is influenced by both environmental and genetic factors. The key genes of pubertal onset, KISS1, GPR54, GNRH1 and GNRHR, may be major causal factors underlying gonadotropin-releasing hormone-dependent precocious puberty (GDPP). Two gain-of-function mutations in KISS1 and GPR54 have...

Type 2 diabetes mellitus and metabolic syndrome
Jin Soon Hwang
Clin Exp Pediatr. 2006;49(7):710-717.   Published online July 15, 2006
Type 2 diabetes mellitus in children and adolescents has been increasing for last 10 years. The increase in frequency of type 2 diabetes appears to parallel the increase in prevalence and severity of obesity in children and adolescents. The metabolic syndrome, cluster of potent risk factors for atherosclerotic cardiovascular disease and type 2 diabetes, consists of insulin resistance, obesity, hypertension...
Original Article
Review of Chromosomal Analyses Performed in a Single Hospital
Hong Kug Kim, Nam Hyang Koo, Jin Soon Hwang, Sung Hwan Kim
Clin Exp Pediatr. 2004;47(11):1157-1160.   Published online November 15, 2004
Purpose : Chromosomal aberration has an effect on the lives of both patients and families. Peripheral blood chromosomal analysis is useful to make a diagnosis and counsel the patient with chromosomal abnormality. We studied the cases with peripheral blood chromosomal analyses and investigated the positivity of peripheral blood chromosomal analysis. Methods : We analyzed 650 patients with chromosomal analyses in Ajou...
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...
Case Report
A Case of Townes-Brocks Syndrome
Hong Seop So, Hyun Ju Choi, Hye Sun Yoon, Jin Soon Hwang, Keun Chan Sohn
Clin Exp Pediatr. 2003;46(4):382-384.   Published online April 15, 2003
Townes-Brocks syndrome is an uncommon autosomal dominant condition first described by Townes and Brocks in 1972. We experienced a newborn female who presented with clinical findings of Townes-Brocks syndrome in an otherwise unaffected family. The patient showed the full spectrum of anomalies including anterior placed anus, triphalangeal thumb, preaxial polydactyly, pre-auricular tags, microtia without opening, sensorineural hearing loss and unilateral...
Original Article
Factors Affecting the Presence of Menarche and Final Adult Height in Adult Female Patients with Congenital Adrenal Hyperplasia of 21-Hydroxylase Deficiency
Seong Yong Lee, Chae Kyoung Song, Min Ho Jung, Jin Soon Hwang, Sei Won Yang
Clin Exp Pediatr. 2001;44(1):75-82.   Published online January 15, 2001
Purpose : Amenorrhea and short stature are serious complications in patients with congenital adrenal hyperplasia of 21-hydroxylase deficiency(CAH). We analysed several factors influencing the presence of menarche and final adult height in these patients. Methods : We retrospectively reviewed medical records of 24 female patients with CAH. We analysed possible factors affecting the menarche and final adult height, such as clinical...
Factors Influencing the Onset of Honeymoon Period in Children with Type I Diabetes Mellitus
Jin Soon Hwang, Sei Won Yang
Clin Exp Pediatr. 2000;43(8):1106-1110.   Published online August 15, 2000
Purpose : Type I diabetes mellitus(DM) is an autoimmune disease which decreases insulin secretion of pancreatic β-cell. The honeymoon period in type I DM is known to be related to the partial recovery of C-peptide and preservation of pancreatic β-cell function. The aim of this study was to determine factors influencing the onset of honeymoon period in children with type...
Re-Evaluation of Neonatal Screening Tests for Inborn Errors of Metabolism with Dried Filter Paper Blood Spots
Kye Shik Shim, Jin Soon Hwang, Jung Sub Lim, Se Young Kim, Choong Ho Shin, Sei Won Yang, Jung Hwan Choi, Chong Ku Yun, Jung-Han Song
Clin Exp Pediatr. 1999;42(12):1639-1644.   Published online December 15, 1999
Purpose : There have been high rates of false positive and recall in neonatal screening test using the cut-off points set by the manufacturing company. So, it is necessary to re-evaluate the cut off values to minimize the false positive rates. Methods : We collected capillary blood in dry filter paper from 996 healthy neonates on the third day in cases...
A Case of Successful Treatment of Pulmonary Alveolar Hemorrhage with Plasmapheresis in Child with Systemic Lupus Erythematosus
Jae Hong Min, Kyung Hoon Paek, Kyung Mi Park, Jin Soon Hwang, Jung Sue Kim, Il Soo Ha, Hae Il Cheong, Kyou Seup Han, Yong Choi
Clin Exp Pediatr. 1998;41(7):974-978.   Published online July 15, 1998
Seoul National University College of Medicine, Seoul, Korea Pulmonary hemorrhage is a rare but possibly fatal complication of systemic lupus erythematosus(SLE). We report a case of massive pulmonary hemorrhage in a 14-year-old boy recently diagnosed as SLE. He developed massive pulmonary hemorrhage during the courses of i.v. methylprednisolone pulse therapy, and did not respond to i.v. cyclophosphamide. However, he rapidly...
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