Characterization of hearing in an X,0 'Turner mouse'

Turner's syndrome is due to total (45,X) or partial (mosaicism) loss of one X-chromosome. The main features are short stature, ovarian dysgenesis with no estrogen production and infertility. In addition to ear and hearing disorders, middle ear problems including acute/serous otitis media and chronic middle ear disease are frequent. Sensorineural hearing loss is often seen with a dip in the mid-frequencies and also an early high frequency loss. In this study, middle-and inner-ear pathology was characterized using physiological and morphological techniques in a 'Turner mouse' that has been generated with the chromosomal aberration X,0. Otitis media was found in some of these X,0 animals, a symptom that is seldom found in control animals. The auditory brainstem responses (ABR) of the Turner mouse showed a progressive hearing loss in the high frequency region that exceeded the normal age-related hearing loss of control mice and increased latencies of the first ABR wave. Outer hair cell loss was apparent in the cochlear basal turn of Turner mice. Decreases in the amplitude of distortion product otoacoustic emissions were correlated with the loss of ABR threshold sensitivity. These results indicate that hearing problems in the Turner mouse seems to be of cochlear origin with an eighth nerve component. This Turner mouse model appears to have ear and hearing problems quite similar to humans and can therefore be used as a model to determine the auditory pathology underlying this syndrome.     

Sudden hearing loss in chronic hepatitis C patient suffering from Turner syndrome, treated with pegylated interferon and ribavirin

Sudden hearing loss is a very rare complication of interferon-alpha treatment. At this time, hearing loss in patients treated with pegylated interferon and ribavirin has only been described in two reports. We present a case of a 27-year-old patient who was diagnosed with Turner syndrome, treated for hepatitis C with pegylated interferon and ribavirin, and suffered from hearing loss during the 10th week of treatment. Audiometric examination revealed a bilateral sensorineural hearing loss (SNHL). Auditory brainstem response (ABR) measures confirmed the diagnosis. We decided to comply with the patient's request to continue therapy, which only led to slight further deterioration of the patient's hearing ability. However, 18 months after the end of therapy a follow-up audiometric examination disclosed a bilateral SNHL.     

Otolaryngologic markers for the early diagnosis of Turner syndrome

Objective

To identify and characterize otolaryngologic markers for the early diagnosis of Turner syndrome (TS).

Study design

Prospective cohort survey.

Methods

Setting: Clinical Center of the National Institutes of Health (NIH). Patients: Ninety-one females, 7-61 years old (average = 28.7 y), enrolled in a multidisciplinary study of karyotype-phenotype correlations in TS. Main outcome measures: Age at diagnosis, X chromosome karyotype, history of chronic or recurrent otitis media (OM), sensorineural hearing loss (SNHL), palate dysmorphism, pinna deformity, pterygium colli, low posterior hairline, low-set ears, and micrognathia.

Results

Sixty-nine (76%) patients had a history of chronic or recurrent OM, 62 (68%) had a dysmorphic palate, 57 (63%) had SNHL, and 90 (99%) had one or more of these findings. 83 (91%; average age at diagnosis = 9.4 y) had one or more external craniofacial signs: pinna abnormalities, pterygium colli, low-set ears, micrognathia or a low posterior hairline. Eight patients (average age at diagnosis = 13.2 y) had no external craniofacial signs, although seven (88%) of these eight patients had a history of chronic or recurrent OM, dysmorphic palate or SNHL. The age at diagnosis was not significantly different between groups with or without external craniofacial signs (P = 0.126).

Conclusions

Patients with mild or incompletely penetrant TS phenotypes often present with otitis media, hearing loss, or both before the diagnosis of TS is established. Palatal dysmorphism, including ogival morphology, is another otolaryngologic marker for TS. Prompt recognition of these manifestations of TS could hasten its diagnosis and appropriate medical care.     

Audio-vestibular evaluation in patients with Behçet's syndrome

A prospective controlled clinical study was carried out at the Department of Ophthalmology and ENT, In?nü University Medical Faculty, Turgut Ozal Medical Center, Research Hospital, to evaluate the audio-vestibular involvement in patients with Beh?et's syndrome compared with controls. Twenty-five consecutive patients with Beh?et's syndrome (mean age +/- SD, 34.96 +/- 8.50) and 20 age- and sex-matched healthy volunteers (hospital staff) as control subjects (mean age +/- SD, 34.45 +/- 9.16) were included in this study. Beh?et's patients were divided into two groups according to the number of criteria, complete (all four major criteria) and incomplete (three major criteria without ocular involvement). The groups were compared with each other or controls regarding inner ear involvement. Audiometric pure-tone thresholds at 125 to 8000 Hz were obtained in all subjects in both groups, and pure tone average (PTA) hearing thresholds were calculated for the middle, high and low frequencies. In addition, short increment sensitivity index (SISI), tone decay and BERA examinations were performed in all Beh?et's patients. Sensorineural hearing loss (SNHL) was present in six of 25 patients with Beh?et's syndrome. Two Beh?et's patients had unilateral total SNHL, two had bilateral moderate level SNHL, one had bilateral low-frequency SNHL and one bilateral high frequency SNHL. In two, BERA, and in five SISI, examination disclosed inner ear involvement. In control subjects, the past medical history was normal and there was no consistent audio-vestibular complaint. Their PTA thresholds were all in the normal range. Otoscopic examination findings were normal, with intact, mobile tympanic membranes in both groups. The present study showed that audio-vestibular involvement is not infrequent in Beh?et's syndrome compared with age- and sex-matched healthy controls, and it is under-estimated. All Beh?et's patients should regularly be followed by an otolaryngologists and be given information about the possibility of inner ear involvement. According to our results, hearing loss occurs more often in older patients and also in the complete form of Beh?et's syndrome.     

The influence of karyotype on the auricle, otitis media and hearing in Turner syndrome

The study has investigated the relationship between the chromosomal aberration and ear and/or hearing disorders in 115 girls/women with Turner syndrome (TS). A dose-response relationship was found between the karyotype and hearing function. Hearing deteriorated more rapidly with increasing age in TS women lacking the whole p-arm of chromosome X (i.e. monosomy 45,X, or isochromosome cases 46,X,i(Xq)) as compared to women having a partial deletion of the p-arm (structural deletions or mosaicism cases), who, in turn, had poorer hearing than a female random population sample (46,XX) (P<0.001). Moreover, TS subjects having total deletion of the p-arm were three times more likely to have auricular anomalies or conductive hearing loss due to otitis media than subjects with partial deletion (P<0. 05). The results support the hypothesis that lack of growth-regulating genes such as the short stature homeobox-containing gene (SHOX), which is located within the pseudo-autosomal region on the p-arm of the X chromosome, may increase the occurrence of auricular malformations and otitis media and also induce an earlier loss of hearing function. Accordingly, the ear and hearing disorders in TS may be a result of growth disturbances of the auricle, the mastoid, the Eustachian tube and the organ of Corti during development. It is suggested that karyotype may be used as a predictor for future ear and hearing problems in TS.     

Sudden hearing loss in chronic hepatitis C patient suffering from Turner syndrome,treated with pegylated interferon and ribavirin

Sudden hearing loss is a very rare complication of interferon–alpha treatment. At this time, hearing loss in patients treated with pegylated interferon and ribavirin has only been described in two reports. We present a case of a 27-year-old patient who was diagnosed with Turner syndrome, treated for hepatitis C with pegylated interferon and ribavirin, and suffered from hearing loss during the 10^th week of treatment. Audiometric examination revealed a bilateral sensorineural hearing loss (SNHL). Auditory brainstem response (ABR) measures confirmed the diagnosis. We decided to comply with the patient's request to continue therapy, which only led to slight further deterioration of the patient's hearing ability. However, 18 months after the end of therapy a follow-up audiometric examination disclosed a bilateral SNHL.     

Mondini deformity in a case of Turner syndrome. A radiological finding

Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented progressive sensorineural hearing loss. The computed tomography of the ears showed bilateral Mondini deformity.     

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

IntroductionTurner syndrome is a frequent genetic disorder that affects female individuals and covers a large phenotypic variability. Scientific literature suggests an association between hearing loss and Turner syndrome, but it remains a controversial topic.ObjectiveTo associate the cytogenetic alteration with the audiometric profile of individuals with Turner syndrome.MethodsCross-sectional study, with a hospital-based, convenience sample. Patients diagnosed with Turner syndrome were included and those with difficulty understanding the audiometry and/or other associated syndromes were excluded. The participants were studied with pure tone audiometry.ResultsOf the 65 patients included, 36.9% had X chromosome monosomy and 63.0% had other alterations. Regarding the audiometry, 64.6% had normal thresholds and 35.3% had hearing impairment. Of these, 30.4% had hybrid hearing loss, 26.0% alteration at 6 and/or 8 kHz, 17.3% had conductive hearing loss, 13.0% sensorineural loss and 13.0% had mixed hearing loss. We observed that the mild degree was the most frequent one. There was no statistically significant association between the cytogenetic type of Turner syndrome and the presence or absence of hearing loss, or with the type and degree of hearing loss.ConclusionThe cytogenetic alteration in Turner syndrome was not associated with the audiometric profile, which showed variability regarding the type and degree of hearing loss.     

The MELAS syndrome. Review of the literature: the role of the otologist

The mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare congenital disorder of mitochondrial DNA (mt-DNA). Patients with this syndrome may present to the otolaryngologist with sensorineural hearing loss (SNHL), which is genetic in origin. A high index of suspicion is required because this hearing loss is part of a syndrome for which early diagnosis and intervention is required.     

Otologic disorders in Turner syndrome

IntroductionPatients with Turner syndrome (TS) have craniofacial malformations, such as Eustachian tube hypoplasia and dysfunction and velar dysfunction, which foster acute otitis media. The aim of this study was to inventory pediatric otologic disorders in patients with TS at their first ENT consultation in our center.Patients and methodsWe reviewed the ENT consultation data of pediatric TS patients followed in our center between 2005 and 2015: otoscopy, hearing threshold, and history of acute otitis media or ENT surgery. Data were compared according to karyotype: X monosomy (45,X), mosaic (45,X/46,XX), isochromosome (46,Xi [Xq]), X ring chromosome X (XrX), with Y material, and “other”.ResultsNinety patients, with mean age 11.9 years (± 4.8 years) at first ENT consultation, were included: 29% showed tympanic abnormality on otoscopy, 21% had hearing loss, 24% had history of recurrent acute otitis media; 18% had undergone adenoidectomy, 24% T-tube insertion, and 5.6% tympanoplasty. No particular karyotype was associated with higher risk of hearing loss or acute otitis media.ConclusionPatients with TS showed high prevalence of pediatric otologic disorders; they therefore require close and prolonged ENT follow-up.     

Cochlear nerve size evaluation in children with sensorineural hearing loss by high-resolution magnetic resonance imaging

PURPOSE: To determine differences in size of cochlear nerves among subjects with deafness due to connexin 26 (Cx26) mutations, subjects with deafness of unknown origin, and normal hearing subjects by sagittal high-resolution magnetic resonance (HRMR) imaging of the temporal bone. MATERIALS AND METHODS: Cross-sectional and surface areas and volumetric measurements of the cochlear nerve and modiolus were made on HRMR images of the internal auditory canal (IAC) and inner ear in the 3 groups of children (groups 1, 2, and 3). Three-way comparisons of in vivo cochlear nerve measurements on HRMR imaging were made among 17 children with sensorineural hearing loss (SNHL) and no obvious etiology for the hearing loss (group 1), 7 children with profound SNHL due to a Cx26 mutation (group 2), and 10 normal hearing children (group 3). RESULTS: Children with profound SNHL of unknown cause and children with profound SNHL due to a connexin mutation displayed hypoplastic cochlear nerves as compared with normal controls. HRMR imaging of the temporal bone was accurately delineated potential problems with cochlear nerves in 2 of 17 instances where high-resolution computed tomography did not do so. CONCLUSIONS: Accurate and specific measurements of the cochlear nerve and related structures is possible on HRMR imaging of the temporal bone. The size of the cochlear nerve is mildly hypoplastic in children with profound SNHL of unknown causes or children with a deafness-causing Cx26 mutation. HRMR imaging is superior to high-resolution computed tomography in the investigation of profound SNHL in children.     

Audiometric features in young adults with Turner syndrome

Objective: Hearing loss (HL) is a known problem in adults with Turner syndrome (TS). The aim of this study was to investigate audiometric features in young adults with TS and the extent of hearing aid provision. Design: Patients were recruited from the Turner centre at Karolinska University Hospital. Analysis of audiograms was made in relation to hearing aid use, a Swedish normal hearing cohort and the need for hearing rehabilitation. Study sample: Sixty-four women with TS aged 25–38 years at the time of their audiological testing. Results: Fifty-two percent had impaired hearing in at least one ear. Sensorineural hearing loss (SNHL) was the most common type of HL, most often characterised by a high-frequency loss and/or a mid-frequency dip. Conductive HL was uncommon in young adults with TS, even though 47 percent were otitis prone as children. Eight of 64 women had previously been fitted with hearing aids. Conclusions: There is undoubtedly a need for hearing rehabilitation in young adults with TS. Questions about hearing must be asked by all doctors treating women with TS to identify those in need for hearing rehabilitation, even if they have an audiogram with a normal pure tone average.     

Cochlear implantation in patients with MELAS syndrome

MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) is a rare congenital disorder of mitochondrial DNA (mt-DNA). Patients with this syndrome may present to the otolaryngologist with sensorineural hearing loss (SNHL) that is genetic in origin. Mitochondrial cytopathies can present with a variety of symptoms, but they occasionally present with SNHL as their first manifestation. Two cases of MELAS patients who responded well to cochlear implantation are presented. A review of the literature is also carried out focusing mainly on diagnosis, anesthetic considerations and management of these patients.     

3p-- syndrome defines a hearing loss locus in 3p25.3

Deletions affecting the terminal end of chromosome 3p result in a characteristic set of clinical features termed 3p-- syndrome. Bilateral, sensorineural hearing loss (SNHL) has been found in some but not all cases, suggesting the possibility that it is due to loss of a critical gene in band 3p25. To date, no genetic locus in this region has been shown to cause human hearing loss. However, the ATP2B2 gene is located in 3p25.3, and haploinsufficiency of the mouse homolog results in SNHL with similar severity. We compared auditory test results with fine deletion mapping in seven previously unreported 3p-- syndrome patients and identified a 1.38Mb region in 3p25.3 in which deletions were associated with moderate to severe, bilateral SNHL. This novel hearing loss locus contains 18 genes, including ATP2B2. ATP2B2 encodes the plasma membrane calcium pump PMCA2. We used immunohistochemistry in human cochlear sections to show that PMCA2 is located in the stereocilia of hair cells, suggesting its function in the auditory system is conserved between humans and mice. Although other genes in this region remain candidates, we conclude that haploinsufficiency of ATP2B2 is the most likely cause of SNHL in 3p-- syndrome.     

Evaluation of cochlear nerve diameter and cross-sectional area in ANSD patients by 3.0-Tesla MRI

Conclusions: The size of cochlear nerve (CN) is atrophic in adult auditory neuropathy spectrum disorder (ANSD) patients compared with non-ANSD sensorineural hearing loss (SNHL) patients and normal hearing subjects, and CN deficiency is one of the lesions for ANSD patients. Objectives: To evaluate the dimensions of CN in adult ANSD patients on magnetic resonance imaging (MRI) and confirm the hypothesis that CN deficiency is one of the lesions for ANSD patients. Methods: Medical records and MRI of 24 adult ANSD patients reviewed retrospectively and 20 non-ANSD SNHL and 24 volunteers with normal hearing were recruited as control groups. The long diameter (LD), short diameter (SD), and cross-sectional area (CSA) of CN and facial nerve (FN) were measured. Results: Among the 24 ANSD patients, this study was able to reconstruct and measure the CN of 91.7% (22/24, total 43 ears) of patients and FN of 83.3% (20/24, total 38 ears) of patients. The mean values and standard deviations of LD, SD, and CSA of CN in ANSD patients were 0.65?±?0.20?mm, 0.44?±?0.15?mm, and 0.30?±?0.19?mm², respectively. They were significantly smaller in ANSD patients than in control groups (p?相似文献   

Fluctuating sensorineural hearing loss in children

Childhood sensorineural hearing loss (SNHL) that fluctuates or is progressive enhances parental concern and complicates medical management, hearing aid selection, and individualized educational planning for the affected child. Despite intensive multidisciplinary evaluation and intervention, continued threshold fluctuation or a gradual decline in auditory acuity may proceed unabated in a significant percentage of these youngsters. With the adoption of universal newborn hearing screening mandates by an increasing number of states, any challenges to the accurate determination of auditory thresholds must be addressed within the first few months of life.     

Longitudinal investigation of hearing disorders in children with congenital cytomegalovirus

This investigation consisted of a longitudinal study of the effects of congenital cytomegalovirus (CMV) infection on hearing sensitivity in 860 children with documented asymptomatic or symptomatic congenital CMV infection. Of the 651 children with asymptomatic CMV infection, 48 (7.4%) developed sensorineural hearing loss (SNHL), compared to 85 (40.7%) of the children with symptomatic CMV infection. Children in both groups experienced latent effects consisting of delayed onset of loss, threshold fluctuations, and/or progressive loss of hearing. It can be concluded that congenital CMV infection is a leading cause of SNHL in children. The late onset and progression of loss necessitates continued monitoring of hearing sensitivity in this population.