1.Otological and hearing characteristics in children with Turner syndrome.
Ze Bin WU ; Hong Guang PAN ; Guo XU ; Guo Wei CHEN ; Lan LI
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2021;56(6):590-595
Objective: To explore the otological and hearing characteristics in children with Turner syndrome (TS), to determine risk factors of hearing loss, and to discuss algorithms for future surveillance. Methods: The clinical data of otolaryngology in children with TS from January 2018 to April 2020 were reviewed retrospectively. A total of 46 female children with TS, aged from 5 to 18 years were enrolled. Karyotypes included 17 cases (37.0%) of monosomy, 16 cases (34.7%) of mosaicism, and 13 cases (28.3%) of abnormal X chromosome structures. The otoscopic characteristics, audiological performance, and otologic diagnoses were evaluated. Multivariate logistic regression and Mann-Whitney U test were used for statistical analysis. Results: The most common otologic comorbidity was otitis media with effusion (OME), including 20 cases (43.5%) with 33 ears (35.9%). 14 cases (30.4%) were diagnosed with hearing loss. The regression analysis revealed that the age (OR=1.345, 95%CI: 1.072-1.760) and comorbidity of OME (OR=9.460, 95%CI: 2.065-60.350) were risk factors associated with hearing loss. In TS with OME, when compared with the mean air conduction threshold, the hearing loss of the group with pars flaccida retractions was significantly higher ((24.3±13.8) dB HL vs. (14.4±4.2) dB HL, U=59.500, P=0.008) than that of the group with none retractions. Conclusion: OME and hearing loss are common in children with TS. As age increases or suffers from OME, the risk of hearing loss increases.
Child
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Female
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Hearing
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Hearing Tests
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Humans
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Otitis Media with Effusion
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Retrospective Studies
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Turner Syndrome/epidemiology*
2.Chromosome abnormalities in a referred population for suspected chromosomal aberrations: a report of 4117 cases.
Sung Soo KIM ; Sung Chul JUNG ; Hyon Ju KIM ; Hae Ran MOON ; Jin Sung LEE
Journal of Korean Medical Science 1999;14(4):373-376
A cytogenetic study was performed on 4,117 Korean patients referred for suspected chromosomal abnormalities. Chromosome aberrations were identified in 17.5% of the referred cases. The most common autosomal abnormality was Down syndrome and Turner syndrome in abnormalities of sex chromosome. The proportions of different karyotypes in Down syndrome (trisomy 21 92.5%, translocation 5.1%, mosaic 2.4%) were similar to those reported in other countries. However, it was different in Turner syndrome (45, X 28.1%, mosaic 50.8%, 46, X, del (Xq) 4.4%, 46, X, i (Xq) 16.7%), in which proportions of mosaics and isochromosome, 46, X, i(Xq), were higher than those reported in other countries. In structural chromosome aberrations of autosome, translocation was the most common (43.6%), and duplication (21.3%), deletion (14.4%), marker chromosome (7.9%) and ring chromosome (4.0%) followed in order of frequency. Rates of several normal variant karyotypes were also described. Inversion of chromosome 9 was observed in 1.7% of total referred cases.
Adolescence
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Chromosomes, Human, Pair 6
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Down Syndrome/genetics*
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Down Syndrome/epidemiology*
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Family Health
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Female
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Gene Deletion
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Human
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Infant, Newborn
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Inversion (Genetics)
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Karyotyping
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Klinefelter's Syndrome/genetics
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Klinefelter's Syndrome/epidemiology
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Korea/epidemiology
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Male
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Mosaicism
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Prevalence
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Translocation (Genetics)
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Turner's Syndrome/genetics*
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Turner's Syndrome/epidemiology*
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X Chromosome
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Y Chromosome
3.Evaluation of Cardiovascular Anomalies in Patients with Asymptomatic Turner Syndrome Using Multidetector Computed Tomography.
Sun Hee LEE ; Ji Mi JUNG ; Min Seob SONG ; Seok jin CHOI ; Woo Yeong CHUNG
Journal of Korean Medical Science 2013;28(8):1169-1173
Turner syndrome is well known to be associated with significant cardiovascular abnormalities. This paper studied the incidence of cardiovascular abnormalities in asymptomatic adolescent patients with Turner syndrome using multidetector computed tomography (MDCT) instead of echocardiography. Twenty subjects diagnosed with Turner syndrome who had no cardiac symptoms were included. Blood pressure and electrocardiography (ECG) was checked. Cardiovascular abnormalities were checked by MDCT. According to the ECG results, 11 had a prolonged QTc interval, 5 had a posterior fascicular block, 3 had a ventricular conduction disorder. MDCT revealed vascular abnormalities in 13 patients (65%). Three patients had an aberrant right subclavian artery, 2 had dilatation of left subclavian artery, and others had an aortic root dilatation, aortic diverticulum, and abnormal left vertebral artery. As for venous abnormalities, 3 patients had partial anomalous pulmonary venous return and 2 had a persistent left superior vena cava. This study found cardiovascular abnormalities in 65% of asymptomatic Turner syndrome patients using MDCT. Even though, there are no cardiac symptoms in Turner syndrome patients, a complete evaluation of the heart with echocardiography or MDCT at transition period to adults must be performed.
Adolescent
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Blood Pressure
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Cardiovascular Abnormalities/complications/epidemiology
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Electrocardiography
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Humans
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Karyotyping
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Multidetector Computed Tomography
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Prevalence
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Turner Syndrome/complications/*diagnosis/radiography
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Vascular Malformations/complications/epidemiology
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Vertebral Artery/abnormalities
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Young Adult
4.Evaluation of referrals for genetic investigation of short stature in Hong Kong.
Wai Fan Fanny LAM ; Wai Lok Edgar HAU ; Tak Sum Stephen LAM
Chinese Medical Journal 2002;115(4):607-611
OBJECTIVETo establish a profile of the causes of apparently unexplained SS in genetic referral center and evaluate the current referral system.
METHODSThis was a retrospective database survey on patients who were referred our clinical genetic service from 1988 - 1998 primarily because of SS. We retrieved the study population from our computer database using "short stature"as a search handle and then studied the demographic, clinical and laboratory data from their medical records.
RESULTSThree hundred and fifty-three subjects were referred for genetic evaluation of SS in 1988 - 1998. The mean age of referred subjects was 11.5 years and the female to male ratio was 7.6. All referrals had undergone cytogenetic studies to exclude chromosomal abnormalities, 19% of girls with apparently unexplained short stature had Turner syndrome; at least 47.9% of the study population were normal variants and 25% of the referrals had inadequate information for classification.
CONCLUSIONSGenetic investigation is essential in the management of patients with SS, especially for girls suspected of having Turner syndrome, in which growth hormone treatment has shown to improve final height. We also highlight the inherited causes of short stature, which were often misdiagnosed as benign familial short stature, and discussed the drawbacks of the current referral system.
Child ; Databases as Topic ; statistics & numerical data ; Family Health ; Female ; Growth Disorders ; diagnosis ; epidemiology ; genetics ; Hong Kong ; epidemiology ; Humans ; Karyotyping ; Male ; Referral and Consultation ; statistics & numerical data ; Retrospective Studies ; Turner Syndrome ; genetics