scholarly journals Kalmann syndrome in monozygous twins as an isolated manifestation of the SOX10 gene defect

2021 ◽  
Vol 67 (5) ◽  
pp. 43-47
Author(s):  
E. B. Frolova ◽  
V. M. Petrov ◽  
E. V. Vasilyev ◽  
N. A. Makretskaya ◽  
O. V. Pilipenko ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Exome Sequencing ◽  
Neuronal Migration ◽  
Hypogonadotropic Hypogonadism ◽  
Sensorineural Hearing ◽  
The Other ◽  
Heterozygous Mutation ◽  
General Group ◽  
Monozygous Twins

More than 30 genes are known to take part in hypothalamic-pituitary-gonadal axis development at the date and role of more than 10 other genes is studied. Despite it about 50% of isolated hypogonadotropic hypogonadism cases still have no molecular genetic explanation.A number of specific associations between iHH and different not-reproductive manifestations called syndromic forms are distinguished in general group of iHH. For example, the combination of Kalmann syndrome with sensorineural hearing loss is known as manifestation for defects of some genes encoding factors of neuronal migration; in patients with this phenotype CHD7, SOX10 genes defects are most frequent. However, defects in the genes of neuronal migration factors are characterized by a wide variability of phenotype, which is explained by the epigenetic mechanisms influence. Carriers of the mutation within the same family may lack some non-reproductive manifestations as well as hypogonadism.Here we present a case of Kalmann syndrome in monozygous twins, caused by a previously not described heterozygous mutation c.462C> G: p.I154M in the SOX10 gene in the absence of sensorineural hearing loss. The mutation was inherited from a father who has only isolated anosmia in the phenotype. This mutation was identified during full exome sequencing. This unique observation for Russia shows on the one hand expediency to check SOX10 sequence in addition to the other factors of neuronal migration and differentiation and, on the other hand, the prospect of full exome sequencing in a group of patients with undifferentiated iHH.

Hearing Rehabilitation in a Patient with Sudden Sensorineural Hearing Loss in the Only Hearing Ear

2008 ◽  
Vol 19 (03) ◽  
pp. 267-274 ◽  
Author(s):  
David B. Hawkins
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sudden Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
The Other ◽  
Profound Hearing Loss ◽  
Hearing Rehabilitation ◽  
Aural Rehabilitation ◽  
Product Manager ◽  
Software Product

A case report is presented of a 62-year-old software product manager who had normal hearing in one ear and a congenital profound hearing loss in the other ear and then sustained a sudden sensorineural hearing loss in the only hearing ear. The approach to amplification decisions, cochlear implant evaluation, and rehabilitation options are discussed. Providing aural rehabilitation and continually updating and providing new amplification options and accessories are described. Se presenta un reporte de caso de un gerente de productos de software de 62 años de edad quien tenía audición normal en un oído y un sordera congénita profunda en el otro, y quién súbitamente sufrió una sordera sensorineural súbita en el único oído con audición. Se discute el enfoque de decisiones de amplificación, la evaluación para implante coclear, y las opciones de rehabilitación. Se describen las pautas para proveer rehabilitación aural y para actualizar continuamente y aportar nuevas opciones de amplificación.

The Effects of Hearing Loss and Noise Masking on the Masking Release for Speech in Temporally Complex Backgrounds

1998 ◽  
Vol 41 (3) ◽  
pp. 549-563 ◽  
Author(s):  
Sid P. Bacon ◽  
Jane M. Opie ◽  
Danielle Y. Montoya
Keyword(s):  
Hearing Loss ◽  
Steady State ◽  
Sensorineural Hearing Loss ◽  
Pure Tone ◽  
Normal Hearing ◽  
Sensorineural Hearing ◽  
The Other ◽  
Signal To Noise ◽  
Noise Masking ◽  
Masking Release

Speech recognition was measured in three groups of listeners: those with sensorineural hearing loss of (presumably) cochlear origin (HL), those with normal hearing (NH), and those with normal hearing who listened in the presence of a spectrally shaped noise that elevated their pure-tone thresholds to match those of individual listeners in the HL group (NM). Performance was measured in four backgrounds that differed only in their temporal envelope: steady-state (SS) speech-shaped noise, speech-shaped noise modulated by the envelope of multi-talker babble (MT), speech-shaped noise modulated by the envelope of single-talker speech (ST), and speech-shaped noise modulated by a 10-Hz square wave (SQ). Threshold signal-to-noise ratios (SNRs) were typically best in the ST and especially the SQ conditions, indicating a masking release in those modulated backgrounds. SNRs in the SS and MT conditions were essentially identical to one another. The masking release was largest in the listeners in the NH group, and it tended to decrease as hearing loss increased. In 5 of the 11 listeners in the HL group, the masking release was nearly identical to that obtained in the NM group matched to those listeners; in the other 6 listeners, the release was smaller than that in the NM group. The reduced masking release was simulated best in those HL listeners for whom the masking release was relatively large. These results suggest that reduced masking release for speech in listeners with sensorineural hearing loss can only sometimes be accounted for entirely by reduced audibility.

Otosclerotic Involvement of the Cochlea: A Histologic and Audiologic Study

1981 ◽  
Vol 89 (2) ◽  
pp. 343-351 ◽  
Author(s):  
Dennis R. Elonka ◽  
Edward L. Applebaum
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Bone Conduction ◽  
Sensorineural Hearing ◽  
The Other ◽  
Poor Correlation ◽  
Stapes Footplate ◽  
Temporal Bones ◽  
Similar Incidence ◽  
Sensorineural Loss

This study sought correlations between sensorineural hearing loss and otosclerotic endosteal involvement in 29 temporal bones examined histologically. The sensorineural hearing loss of the affected parts of the cochlea was determined by the last antemortum bone conduction audiogram available. There were eight temporal bones with only stapes footplate involvement, six with one discrete focus of otosclerotic endosteal involvement, and 15 with two or more foci of endosteal involvement. Analysis of audiometric data showed that the group of bones with two or more foci of endosteal involvement had a similar incidence of 45 dB sensorineural loss (9 of 15 or 60%) as did the group with no endosteal involvement (5 of 8 or 62%). The group with two or more foci had a greater incidence of 60 dB or greater sensorineural loss (46%) compared with the groups with none (12%) or one focus (16%) involved. Correlation between hearing toss and involvement of cochlear endosteum was poor. Correlation existed in only 2 of 15 ears with two or more foci involving the cochlear endosteum. There was no correlation in the other groups. It appears that cochlear endosteal involvement alone may not be sufficient explanation for the sensorineural hearing loss found with otosclerosis, except in the most severely involved ears.

scholarly journals Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population

2015 ◽  
Vol 17 (11) ◽  
pp. 901-911 ◽  
Author(s):  
Nayoung K. D. Kim ◽  
Ah Reum Kim ◽  
Kyung Tae Park ◽  
So Young Kim ◽  
Min Young Kim ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Pediatric Population ◽  
Sensorineural Hearing ◽  
Whole Exome

Congenital hearing loss in patients with Cornelia de Lange syndrome

1987 ◽  
Vol 101 (12) ◽  
pp. 1276-1279 ◽  
Author(s):  
Elisabeth P. Egelund
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Short Review ◽  
Sensorineural Hearing ◽  
The Other ◽  
Cornelia De Lange Syndrome ◽  
Congenital Hearing Loss ◽  
Cornelia De Lange

AbstractTwo children with a congenital Cornelia de Lange syndrome and a verified sensorineural hearing loss are presented. One could be tested by conventional audiometry, the other only with the help of the newer computerized electronic methods. A short review of some earlier reports on congenital hearing loss in this syndrome is made.

Audiometric Bing Test for Determination of Minimum Masking Levels for Bone-Conduction Tests

1974 ◽  
Vol 39 (2) ◽  
pp. 148-152 ◽  
Author(s):  
Frederick N. Martin ◽  
Ernest C. Butler ◽  
Paul Burns
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Conductive Hearing Loss ◽  
Bone Conduction ◽  
Sensorineural Hearing ◽  
The Other ◽  
Occlusion Effect ◽  
Conductive Hearing

Occlusion effects were determined and compared on three groups of subjects (20 normal hearers, 20 with conductive hearing loss, and 20 with sensorineural hearing loss). As in previous studies, the occlusion effects of the conductive group were clearly different from those of the other two groups, especially at 250 Hz. Two procedures are discussed which use the principle of the Bing test to determine when and how to compensate for the occlusion effect while masking for bone conduction.

scholarly journals Genetic background in late-onset sensorineural hearing loss patients

2021 ◽  
Author(s):  
Natsumi Uehara ◽  
Takeshi Fujita ◽  
Daisuke Yamashita ◽  
Jun Yokoi ◽  
Sayaka Katsunuma ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Sensorineural Hearing Loss ◽  
Late Onset ◽  
Japanese Patients ◽  
Sensorineural Hearing ◽  
The Other ◽  
Mild Phenotype ◽  
Appropriate Treatment ◽  
Bilateral Sensorineural Hearing Loss

AbstractGenetic testing for congenital or early-onset hearing loss patients has become a common diagnostic option in many countries. On the other hand, there are few late-onset hearing loss patients receiving genetic testing, as late-onset hearing loss is believed to be a complex disorder and the diagnostic rate for genetic testing in late-onset patients is lower than that for the congenital cases. To date, the etiology of late-onset hearing loss is largely unknown. In the present study, we recruited 48 unrelated Japanese patients with late-onset bilateral sensorineural hearing loss, and performed genetic analysis of 63 known deafness gene using massively parallel DNA sequencing. As a result, we identified 25 possibly causative variants in 29 patients (60.4%). The present results clearly indicated that various genes are involved in late-onset hearing loss and a significant portion of cases of late-onset hearing loss is due to genetic causes. In addition, we identified two interesting cases for whom we could expand the phenotypic description. One case with a novel MYO7A variant showed a milder phenotype with progressive hearing loss and late-onset retinitis pigmentosa. The other case presented with Stickler syndrome with a mild phenotype caused by a homozygous frameshift COL9A3 variant. In conclusion, comprehensive genetic testing for late-onset hearing loss patients is necessary to obtain accurate diagnosis and to provide more appropriate treatment for these patients.

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