Objective

2

A case of Turner syndrome with cochlear implant was analyzed to summarize the clinical features of Turner syndrome.

Methods

2

Clinical data

karyotype analysis and bioinformatics were used to identify pathogenic genes and mutations

and to evaluate hearing and speech ability before and after cochlear implantation.

Results

2

The patient had typical TURNER syndrome phenotype and was diagnosed as total deafness in the left ear and conductive deafness in the right ear. Chromosome karyotype analysis showed that the patient carried X haplotype (45

X0) and underwent cochlear implantation in the left ear. The auditory behavior rating (CAP) was level 5 and the speech intelligibility rating (SIR) was level 4 at 1 year follow-up.

Conclusion

2

Chromosome karyotype analysis of peripheral blood is helpful to determine the clinical diagnosis of TURNER syndrome deafness

and cochlear implantation is helpful to improve the hearing and speech ability of children with Turner syndrome.