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Review Article
Endocrinology
Lifelong medical challenges and immunogenetics of Turner syndrome
Won Kyoung Cho
Clin Exp Pediatr. 2024;67(11):560-568.   Published online July 31, 2024
· This summary emphasizes the importance of the early diagnosis of Turner syndrome (TS) and presents a multidisciplinary approach to its prevention and management, high-lighting the need for customized care.
· Advancements in immunogenetic research may improve our understanding of TS and improve its outcomes.
· TS encompasses a wide array of medical challenges, including cardiovascular, endocrine, autoimmune, and mental health issues, as well as a heightened cancer risk.
Case Report
Endocrinology
Concomitant occurrence of Turner syndrome and growth hormone deficiency
Jung Yu, Ha Young Shin, Chong Guk Lee, Jae Hyun Kim
Clin Exp Pediatr. 2016;59(Suppl 1):S121-S124.   Published online November 30, 2016

Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported...

Original Article
Clinical disease characteristics according to karyotype in Turner syndrome
Chae Young Yeo, Chan Jong Kim, Young Jong Woo, Dae Yeol Lee, Min Sun Kim, Eun Young Kim, Jong Duck Kim
Clin Exp Pediatr. 2010;53(2):158-162.   Published online February 15, 2010
Purpose : Turner syndrome (TS) is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the incidence of these disorders in patients with TS according to karyotype. Methods : We reviewed medical records of 90 patients with TS diagnosed by chromosomal analysis in 4 hospitals...
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...
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...
Original Article
A Cytogenetic Study in Patients with Sex Chromosome Abnormalities
Hyun Ji Seo, Ji Hye Lee, Heung Kyo Lee, Seung Hee Jung, Kun Soo Lee
Clin Exp Pediatr. 2005;48(12):1317-1323.   Published online December 15, 2005
Purpose : This study was performed to evaluate the recent frequency of karyotypes in different sex chromosome abnormalities and to evaluate the age and clinical manifestations at diagnosis. Methods : Peripheral blood leukocytes were obtained from subjects who were clinically suspected to have sex chromosome abnormalities and referred to the cytogenetic laboratory in the Department of Pediatrics, Kyungpook National University Hospital...
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....
Renal Anomalies in Children with Turner Syndrome
Ji Young Kim, Sun Young Hong, Young Mi Park, Yong Hoon Park, Woo Yeong Chung
Clin Exp Pediatr. 2002;45(7):891-895.   Published online July 15, 2002
Purpose : The prevalence of renal anomalies in Turner syndrome(TS) has been reported to vary from 33% to 60%. The purpose of this study was to clarify the true incidence of renal malformations in Korean TS. Methods : We evaluated 33 patients with Turner syndrome diagnosed by karyotype in Inje University Busan Paik hospital and Youngnam University from January 1995....
Radiologic Findings of Hands in Turner Syndrome
Young Sim Han, Moo Young Oh, Young Joon Lee, Woo Yeong Chung
Clin Exp Pediatr. 2001;44(7):817-822.   Published online July 15, 2001
Purposes : Radiologic findings of hands in Turner syndrome(TS) which have been reported were metacarpal sign(MS), carpal sign(CS), phalangeal sign(PS), osteopenia, and delayed bone maturation. The aim of this study is to evaluate the difference of radiologic findings in TS, idiopathic short stature(ISS), and growth hormone deficiency(GHD). Methods : Sixty girls with short stature were studied for chromosome analysis, and...
Case Report
Two Cases of Kabuki Make-up Syndrome Including One Case Associated with Xq Isochromosome
Ki Hea Cho, Jung Hwa Lee, Kee Hyoung Lee, Kwang Chul Lee, Ji Tae Choung, Chang Sung Son, Young Chang Tockgo
Clin Exp Pediatr. 2000;43(8):1111-1115.   Published online August 15, 2000
Kabuki make-up syndrome(KMS) is characterized by mental and developmental retardation and peculiar facial features including long palpebral fissures with eversion of the lateral portion of lower eyelid and arching of eyebrows, resembling the actors in Japanese Kabuki. In addition, dermatoglyphic and skeletal abnormalities are commonly associated. Although most karyotypes of KMS are shown to be normal, there have been some...
Original Article
Role of Polymorphism in HLA DQ-α and -β Chain Loci in the Pathophysiology of Autoimmune Thyroid Disease in Children with and without Turner Syndrome
Kye Shik Shim, Kyu Chul Choeh, Sei Won Yang, Sa Jun Chung, Jin Sung Lee, Kyung Tae Lee, Sung Ho Goh, Yong Sung Kim
Clin Exp Pediatr. 1999;42(7):980-990.   Published online July 15, 1999
Purpose : About 10% of girls with Turner syndrome may have autoimmune thyroid disease(AIT), but the disease's pathophysiology has not yet been elucidated. Accordingly, this study was performed to observe whether the pathogenesis of AIT in children with Turner syndrome and without Turner syndrome correlate with special loci of DQ α and β chain in HLA. Methods : Blood samples were...
Molecular Genetic Screening for the SRY(Sex Determining Region of the Y chromosme) Gene in Turner Syndrome Patients
Jung-Yeon Shim, Han-Wook Yoo
Clin Exp Pediatr. 1996;39(7):915-923.   Published online July 15, 1996
Purpose : Turner syndrome is among the most common cytogenetic abnormalities associated with X chromosome. In only 40-60% of Turner syndrome, 45,X monosomy is found and the high prenatal mortality of non-mosaic 45,X has led to the hypothesis that liveborn 45,X individuals may be cryptic mosaics. The presence of Y chromosome is significant because it predisposes affected individuals with Turner syndrome to gonadoblastoma formation....
The Changes of the Bone Mineral Density in the Girls with Turner Syndrome, using Recombinant Human Growth Hormone
Sei Won Yang
Clin Exp Pediatr. 1996;39(6):839-845.   Published online June 15, 1996
Purpose : Estrogen deficiency causes sexual infantilism in Turner syndrome, which could decrease the bone mineral density(BMD) since birth. This decreased BMD might be contributed by the decreased growth hormone(GH) secretion. To improve the decreased BMD, estrogen therapy is recommended, especially after the pubertal age, but estrogen therpay during childhood can accelerate the epiphyseal fusion, resulting in shorter final height. There is...
Clinical Characteristics of Patients with Tumer' Syndrome according to Karyotypic Differences
Eun Young Kim, Kyoung Sim Kim, Kibok Kim, Won Jin Kee
Clin Exp Pediatr. 1995;38(11):1460-1469.   Published online November 15, 1995
Purpose : To assess the differences of clinical features according to various karyotypes in Turner syndrome. Methods : Subjected to study were 45 patients with Turner syndrome, including 5 newborns, from March 1974 to April 1994. They were divided into 3 groups according to karyotypes: 45,X, mosaicism, and structural aberration; and the clinical features were compared. Also structural aberration groups, 46,XXp-and...
Clinical Differences by Karyotype in Patients with Turner Syndrome
Mi Jung Park, Jin Sung Lee, Kir Young Kim, Duk Hi Kim, Ho Seoung Kim
Clin Exp Pediatr. 1995;38(2):143-150.   Published online February 15, 1995
Purpose : The aim of this study was to evaluate clinical differences by karyotype in Turner Syndrome. Methods : We evaluated 66 patients with Turner syndrome diagnosed at Yonsei University College of medicine from Mar.1985 to Feb.1993. We divided subproups as pure 45,X groups, mosaisism groups and structural aberration groups. Clinical features, serum estrogen, LH, FSH, concentrations, gonadotropin release after GnRH...
Case Report
A Case of Hypomelanosis of Ito Accompanying Turner Syndrome
Kyung Un No, Dong Wook Kim, Dong Joo Shin, Hyung Ro Moon
Clin Exp Pediatr. 1992;35(8):1157-1163.   Published online August 15, 1992
Hypomelanosis of Ito has been known to show the characteristic hypopigmentation of the skin over the trunk and the extremities following Blaschko lines, and to accompany abnormalities of the central nervous system, the skeletal system, the eye and so on. Lately, a variety of chromosomal anomalies, especially mosaicism, have been reported in association with hypomelanosis of Ito, which is believed...
A Case of Prune Belly Syndrome ssociated with Turner Syndrome
Chang Soo Oh, Sang Muk Choi, Jae Ock Park, Chang Hwi Kim, Sang Jhoo Lee
Clin Exp Pediatr. 1992;35(7):978-983.   Published online July 15, 1992
The Prune belly syndrome is a rare congenital anomaly characterized by lax, wrinkled abdominal wall, cryptorchidism and urinary tract anomalies. But it has a wide spectrum of clinical presentation and combine with other anomalies such as pulmonary, skeletal, digestive, cardiovascular and other system. We experienced a case of prune-belly syndrome associated with Turner syndrome in a 18 month old female...
Original Article
Study on Antithyroid Antibody and Thyroid Functional Status in Patients with Turner Syndrome.
Bo Young Lee, Duk Hi Kim, Kir Young Kim
Clin Exp Pediatr. 1989;32(10):1397-1401.   Published online October 31, 1989
This study is a systematic cytogenetic and clinico-hormonal analysis of 26 cases who were diagnosed as Turner syndrome at the Yonsei Medical Center from Jan. 1978 to Jan. 1988. Antithyroid antibody and thyroid function tests were performed in Turner syndrome(3 groups according to karyotypes) and control group. The results were as follows: 1) The incidence of positive antithyroid antibody in the 26 cases was 42.3% and...
Case Report
Eleven Cases of Turner Syndrome.
Jong Sub Lee, Hack Joo Cha, Ki Bok Kim
Clin Exp Pediatr. 1983;26(1):91-96.   Published online January 31, 1983
Among the patients who have been referred to our Cytogenetic Laboratory with the suspicion of Turner Syndrome during the past 8 years, eleven were confirmed by cytogenetic analyses. Clinical features and the results of cytogenetic analyses of those cases are summarized as follows: 1) The patients, all females, ranged in age from 16 to 25 years at the time of first consultation, and their...
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