• Clinical and Experimental Pediatrics
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• v.48 no.2
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• pp.191-196
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• 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. We analyzed the factors influencing FAH in growth hormone(GH) treated and GH untreated groups. Results : Sixty patients were enrolled; 48 patients received GH treatment, and 12 patients did not. Mean duration of GH treatment was 35.8 months(range 4 to 120 months), and mean dosage of GH was $0.8{\pm}0.2IU/kg/wk$ in GH treated group. Mean growth velocity was $5.6{\pm}2.0cm/yr$, which was significantly higher than that during pretreatment period. In the GH treated group, mean chronological age, bone age, mean height, and height standard deviation(SD) score at GH treatment were $12.2{\pm}2.7yr$ $10.3{\pm}2.5yr$ $127.5{\pm}10.1cm$ and $-3.1{\pm}1.1$, respectively. In the GH treated group, the mean FAH and SD score of FAH were $146.9{\pm}5.8cm$ and $-2.7{\pm}1.2$, respectively, which showed significant differences compared with those of the GH untreated group. Analyzing the factors affecting FAH in GH-treated patients, only the SD score of height at the time of treatment was significantly related to FAH. Conclusion : GH treatment leads to an increment in FAH in patients with Turner syndrome. Average FAH gain was as much as 5.8 cm. SD score of height at the time of GH treatment was the only factor influencing FAH.

• Clinical and Experimental Pediatrics
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• v.52 no.3
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• pp.370-375
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• 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 resistant and non-resistant groups according to values of homeostasis model assessment of insulin resistance (HOMA-IR). The correlations of HOMA-IR with metabolic parameters were analyzed. Results : The frequency of MS was 7% and those of each metabolic parameter were as follows: insulin resistance, 16.3%; central obesity, 15.4%; hypertriglyceridemia, 2.3%; low HDL cholesterol, 9.3%; hypertension, 36.8%. The insulin-resistant group had significantly higher values of body mass index (BMI), waist circumference (WC), fasting plasma glucose (FPG), HOMA-IR, and systolic blood pressure (SBP) than the non-resistant group (P<0.05). HOMA-IR showed a significantly positive correlation with BMI, WC, FPG, and SBP and showed a negative correlation with HDL cholesterol. Conclusion : This study suggests that adults with TS have a high risk of metabolic syndrome, and insulin resistance is correlated with metabolic factors. Therefore, TS patients should have their metabolic parameters monitored regularly to minimize metabolic complications and prevent cardiovascular diseases.

• Clinical and Experimental Reproductive Medicine
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• v.9 no.1_2
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• pp.79-93
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• 1982

We collected a total of 109 patients with intersex during the past 16 years (1966-1982). They were summerized as follows: Klinefelter's syndrome, the most common disease, was found in 76 cases, Turner's syndrome in 3 cases, true hermaphroditism in 5 cases, male pseudohermaphroditism in 5 cases, female pseudohermaphroditism in 13 cases and others in 7 cases in which 2 cases of XX male syndrome, 1 case of agonadism, 1 case of hernia uteri inguinale and 3 cases of unclassified intersex were included. 2 mosaic Klinefelter's syndrome showed 46/47 XX/XXY and 1 mosaic Turner's syndrome showed 45/46 XO/XX. The 5 patients with true hermaphroditism included 2 cases that had an ovary on one side and a testis on the other, 1 case, seperate ovary and testis on each side, 1 case, an ovary on one side and a seperate testis and ovary on the other and 1 case, an ovary on one side and an ovotestis on the other. Sex chromosome study on the true hermaphroditism revealed 46 XX in 2 patients and 46/46 XX/XY mosaicism in 3 patients. In male pseudohermaphroditism, all patients had a short and blind vagina. Of which, familial tendency was found in 1 case. Her sister had operation for sex reversal for female. In female psedohermaphroditism, all the patients were adrenogenital syndrome. Operations for clitoridectomy and vaginoplasty were performed on 10 patients. Hydrocortisone was given to 6 patients. Menstruation started to occur 6 months and 4 months after the medical therapy respectively in 2 cases.

• Journal of Chest Surgery
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• v.34 no.7
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• pp.552-555
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• 2001

Noonan syndrome is characterized by a Turner-like phenotype and a normal karyotype associated with congenital abnormalities, such as short stature, variable mental retardation, hypertelorism, webbed neck, low posterior hair line, skeletal malformation and congenital cardiovascular defect. Two third of Noonan syndrome have cardiac anormalies, half with pulmonary stenosis. We have experienced two cases of pulmonary stenosis associated with other cardiac anomalies in Noonan syndrome. The first 31-year-old male patient had characteristic appearance of Noonan syndrome with severe infundibular pulmonic stenosis and patent foramen ovate. The second 28-year-old male patient had valvular and subvalvular Pulmonary stenosis with typical Noonan\`s face and stature. Pulmonary valvotomy and hypertrophied muscle bundles in the right ventricular cavity were resected in both cases. Patent foramen ovate was closed directly in the first case. Postoperative follow-up examinations revealed no symptoms and successful outcome.

• Korean Circulation Journal
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• v.54 no.7
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• pp.425-426
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• 2024

• Journal of Chest Surgery
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• v.33 no.5
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• pp.419-421
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• 2000

Noonan syndrome is characterized by typical facies, congenital heart defect, and some clinical features similar to Turner syndrome, but with normal chromosomes. The most commonly associated cardiac defects are pulmonary valvular stenosis and strial septal defect. We experienced a case of Nonan syndrome associated with pulmonay valve stenosis with double-chambered right ventricle and atrial septal defect and cryptorchidism. Pulmonary valvotomy was done through transannular incision. Hypertrophied muscle bundles were excised. Atrial septal defect was closed directly. RVOT was reconstructed with pericardial transannular patch. Orchiopexy was performed simultaneously without any problem.

• Journal of Chest Surgery
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• v.55 no.5
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• pp.413-416
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• 2022

A 32-year-old woman diagnosed with Turner syndrome presented to the hospital for an evaluation of cardiovascular complications. Preoperative computed tomography (CT) and echocardiography showed progression of aortic root and ascending aorta dilatation, as well as a bicuspid aortic valve. There was no evidence of aortic regurgitation. We planned valve-sparing aortic root replacement and ascending aorta replacement with a high risk of aortic rupture. Intraoperatively, we incidentally found a juxtacommissural origin of the right coronary artery (RCA). We performed aortic valve reimplantation using a graft designed with a key-shaped hole to wrap the juxtacommissural-origin RCA by modifying the Florida sleeve technique. Coronary blood flow was patent on postoperative CT angiography, and there was no evidence of aortic regurgitation on postoperative echocardiography. The patient was discharged from the hospital on postoperative day 7 without any complications.

• Korean Journal of Clinical Laboratory Science
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• v.42 no.3
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• pp.111-115
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• 2010

A 15-year-old female with primary amenorrhea and Tuner's syndrome feature was referred for a chromosome analysis. The karyotype of the patient was 45,X/46,X,der(Y) mosaicism under initial GTG-banding analysis. Fluorescence in situ hybridization (FISH) analysis with probe for CEP X probes and SRY probe (Vysis, Inc. Downers Grove, IL 60515, USA) was carried out. This probe is direct labeled with SpectrumOrange (SRY, Yp11.3) and is available as a single probe or mixed with the CEP X SpectrumGreen probe. SRY SpectrumOrange/CEP X SpectrumGreen hybridized to a specimen obtained from an two isodicentric Y chromosomes. The karyotype of the patient was ish Xcen(DXZ1x1)/Xcen(DXZ1x1), Yp11.3(SRYx2) by using FISH. This karyotype was considered a variant of Tuner syndrome with mixed gonadal dysgenesis (MGD), male pseudohermaphroitism (MPH) and apparently normal male.

• Clinical and Experimental Pediatrics
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• v.45 no.7
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• pp.891-895
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• 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. Intravenous pyelography(IVP) was performed on all patients; abdominal ultrasonography and 99mTc-DMSA renal scan were performed on some. Cytogenetic analysis was performed on all patients with peripheral blood lymphocytes. Results : Of the total 33 patients, the karyotype showed 45, X in 18(54.5%) patients, mosaicism in 11(33.3%) patients and structural aberration in 4(12.2%) patients. The overall incidence of renal anomalies was 36.4%. The renal anomalies included four cases of horeshoe kidney, six cases of abnormal renal collecting system one case of single kidney and one case of malrotation. The incidence of renal anomalies in 45, X karotype(44.4%) showed a higher rate than that of mosaicism and structural aberration(26.7%), but there is no statistical significance. Conclusion : The incidence of renal anomalies in Korean TS reveals 36.4%. This rate is similar to other foreign TS studies. We recommend that renal ultrasonography or IVP for investigation of renal anomalies should be done as a screening procedure for the better quality of life in patients with TS.

• Journal of the korean academy of Pediatric Dentistry
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• v.45 no.3
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• pp.386-392
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• 2018

Turner syndrome (TS) is a chromosomal disorder caused by monosomy of the X chromosome, with complete or partial absence of the second sex chromosome. Anomalies of root morphology have been found to occur more often in patients with TS, which make endodontic treatment challenging and requires special handling. The patients with TS may also have systematic problems such as cardiac or renal malformations, so in treating these patients it is important for clinicians not only to be aware of the characteristic intraoral findings, but also to make the patients have regular dental check-ups to prevent oral complications in advance. An 12-year-old girl who had been diagnosed with TS at the age of 10 years was referred due to discomfort in the bilateral mandibular premolar regions. Dens evaginatus and taurodontism were detected in all the mandibular premolars characteristically. The bilateral mandibular first premolars had three roots and the bilateral mandibular second premolars had periapical lesion with two roots. Due to the complexity of the root canal anatomy, root canal treatment were completed with a dental microscope to ensure adequate visualization. After 2 years of regular follow-up examinations, there were no clinical sign or symptom associated with the teeth, and no periapical lesion, was found. This case report describes the characteristic oral features and dental management of TS patients.