Ear health and hearing surveillance in girls and women with Turner's syndrome: recommendations from the Turner's Syndrome Support Society

Kubba, Haytham; Smyth, Arlene; Wong, Sze Choong; Mason, Avril

doi:10.1111/coa.12750

Cited by 12 publications

(21 citation statements)

References 27 publications

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“…These results are in agreement with a similar study, which evaluated 52 individuals with TS, aged between 7 and 37 years old, which observed that the participants with hearing loss had a higher frequency of mild, moderate and moderately severe hearing loss, in decreasing order, whereas none had a profound degree of loss. 17 We believe this finding may be related to the fact that the sample is under 40 years old, considering that hearing loss in TS may be progressive 18 and that individuals with TS need regular audiological monitoring, as new hearing problems can arise throughout life. 19 …”

Section: Discussionmentioning

confidence: 98%

Association between cytogenetic alteration and the audiometric profile of individuals with Turner syndrome

Bazilio¹,

Santos²,

Almeida³

et al. 2021

Brazilian Journal of Otorhinolaryngology

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Section: Discussionmentioning

confidence: 98%

Association between cytogenetic alteration and the audiometric profile of individuals with Turner syndrome

Bazilio¹,

Santos²,

Almeida³

et al. 2021

Brazilian Journal of Otorhinolaryngology

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“…Out of the 14034 pregnant women recruited in our research, a total of 46 cases of sex chromosome mosaicism were found, and the sex chromosome mosaicism rate was 0.328%, mainly including four types of mosaicism: mos45,X/46,XX(12); mos45,X/46,XY (11); mos47XXX(or XXY or XYY)/46XX(or XY) (11); and other types of abnormal karyotype mosaic (12). The detailed information is in the Table 1.…”

Section: Resultsmentioning

confidence: 94%

“…Among these mosaic cases, 45,X(Turner Syndrome) is the most common chromosome abnormality. 31 out of 46 were 45, X mosaicism, which usually causes infertility, cardiac and kidney malformation, and ear and hearing problems 12 . Sex chromosome trisomies mosaicism, including 47,XXY, 47,XXX, 47,XYY, that is an extra X or Y chromosome in karyotype, are less than 45,X mosaicism.…”

Section: Discussionmentioning

confidence: 99%

The Karyotype Analysis of Sex Chromosome Mosaicism in Prenatal Diagnosis and Their Clinical Outcomes

Hu¹,

Lü²,

Kong³

2020

Preprint

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Objective To analyze the karyotype of sex chromosome mosaicism in our prenatal diagnosis of 14034 pregnant women in their second trimester, and report the rate of sex chromosome mosaicism and their clinical outcomes.Methods A retrospective analysis of cytogenetic studies of 14043 cases of pregnant women from the Genetic Counseling Clinic from May 2017 to January 2020 by amniocentesis, were performed. Results A total of 46 cases of sex chromosome mosaicism were found, and the sex chromosome mosaicism rate was 0.328%, mainly including four types of mosaicism: mos45,X/46,XX(12); mos45,X/46,XY (11); mos47XXX(or XXY or XYY)/46XX(or XY)(11); and other types of complex abnormal karyotype mosaic(12). Among the 46 fetuses with sex chromosome mosaicism, the indications of prenatal diagnosis includes the numerical abnormality of sex chromosome by NIPT(23/46)，the high risk of trisomy 21 by serum screening(12/46)，abnomal ultrosound(4/46), the advanced maternal age(age ≥35)(4/46), and the histories of abnormal pregnancy(3/46). According to the results of cytogenetic analysis and genetic counseling, the pregnant women would decide to continue or terminate their pregnancy. Conclusion Prenatal cytogenetic diagnosis by amniocentesis is an accurate and convenient method and helps to avoid the delivery of fetuses with chromosomal diseases and reduce the risk of fetal malformation.

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“…Hearing problems can occur at all ages in TS patients, and the incidence is higher than that of normal people ( 5 , 20 – 22 ). The types of HL in TS patients included conductive hearing loss (CHL), sensorineural hearing loss (SNHL), and mixed hearing loss (MHL).…”

Section: Discussionmentioning

confidence: 99%

Incidence and risk factors of hearing loss in patients with Turner Syndrome

Lin

Wang²,

Qin³

et al. 2023

Front. Public Health

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BackgroundHearing loss (HL) is one of the main medical complications for Turner Syndrome (TS) patients, with an earlier presentation and higher incidence than normal women. However, the etiology of HL in TS is unclear. The aim of this study was to investigate the hearing status of TS patients in China and the influencing factors, so as to provide a theoretical basis for early intervention treatment for TS patients with HL.MethodsIn total 46 female patients aged 14–32 diagnosed with TS received tympanic membrane and audiological examinations, including pure tone audiometry and tympanometry. In addition, the effects of karyotype, sex hormone levels, thyroid function, insulin, blood lipids, bone mineral density, age and other factors on hearing levels were analyzed, and the possible risk factors associated with HL in TS patients were explored.ResultsIn 9 patients (19.6%) had HL, including 1 (2.2%) with mild conductive hearing loss, 5 (10.9%) with mild sensorineural hearing loss, 3 (6.5%) with moderate sensorineural hearing loss. TS is often associated with age-related mid-frequency and high-frequency HL, and the incidence of HL increases with age. Compared with other karyotypes, patients with 45, X haplotype have an increased risk of mid-frequency HL.ConclusionsTherefore, karyotype may be a predictor of hearing problems in TS.

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Ear health and hearing surveillance in girls and women with Turner's syndrome: recommendations from the Turner's Syndrome Support Society

Abstract: Otolaryngologists should be aware of the high prevalence and challenging nature of all forms of ear disease in individuals with TS. Early intervention may offer benefits to health and education, and we advocate routine lifelong annual hearing screening in this group.

Cited by 12 publications

References 27 publications

Association between cytogenetic alteration and the audiometric profile of individuals with Turner syndrome

Association between cytogenetic alteration and the audiometric profile of individuals with Turner syndrome

The Karyotype Analysis of Sex Chromosome Mosaicism in Prenatal Diagnosis and Their Clinical Outcomes

Incidence and risk factors of hearing loss in patients with Turner Syndrome

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