Audiometric features in young adults with Turner syndrome

Bonnard, Åsa; Hederstierna, Christina; Bark, Rusana; Hultcrantz, Malou

doi:10.1080/14992027.2017.1314559

Cited by 15 publications

(16 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Hearing loss is a well-known problem in patients with TS ( 34 ). Evaluation is indicated in all girls with TS at the time of diagnosis and at 2- to 5-year intervals ( 3 , 4 ).…”

Section: Discussionmentioning

confidence: 99%

A Synopsis of Current Practice in the Diagnosis and Management of Patients with Turner Syndrome in Turkey: A Survey of 18 Pediatric Endocrinology Centers

Uçar

Abacı

Pirgon

et al. 2018

Jcrpe

View full text Add to dashboard Cite

Objective:A comprehensive survey was conducted to evaluate the shortcomings of clinical care in patients with Turner syndrome (TS) in Turkey.Methods:A structured questionnaire prepared by the Turner study group in Turkey, which covered relevant aspects of patient care in TS was sent to 44 pediatric endocrinology centers.Results:Eighteen centers (41%) responded to the questionnaire. In the majority of the centers, diagnostic genetic testing, screening for Y chromosomal material, protocols regarding the timing and posology of growth hormone (GH) and estrogen, thrombophilia screening, fertility information and screening for glucose intolerance, thyroid, and coeliac diseases in patients with TS were in line with the current consensus. Thirteen centers (72.2%) performed GH stimulation tests. Only four centers (22.2%) used oxandrolone in patients with TS with very short stature. The majority of the centers relied on bone age and breast development to assess estrogen adequacy, though together with variable combinations of oestrogen surrogates. Two centers (11.1%) reported performing serum estradiol measurements. Eight centers (44.4%) routinely conducted cardiac/thoracic aorta magnetic resonance imaging. Screening for hearing, dental and ophthalmologic problems were performed by thirteen (72.2%), six (33.3%) and ten (55.6%) centers, respectively. Psychiatric assessments were made by four centers (22.2%) at diagnosis, with only one center (5.6%) requiring annual reassessments.Conclusion:Although we found some conformity between the current consensus and practice of the participating centers in Turkey regarding TS, further improvements are mandatory in the multi-disciplinary approach to address co-morbidities, which if unrecognized, may be associated with reduced quality of life and even mortality.

show abstract

“…Hearing loss is a well-known problem in patients with TS ( 34 ). Evaluation is indicated in all girls with TS at the time of diagnosis and at 2- to 5-year intervals ( 3 , 4 ).…”

Section: Discussionmentioning

confidence: 99%

A Synopsis of Current Practice in the Diagnosis and Management of Patients with Turner Syndrome in Turkey: A Survey of 18 Pediatric Endocrinology Centers

Uçar

Abacı

Pirgon

et al. 2018

Jcrpe

View full text Add to dashboard Cite

show abstract

“…Among many older women with Turner syndrome, hearing loss is the chief complaint. Only approximately one‐third of Turner syndrome patients have normal hearing (Bonnard, Hederstierna, Bark, & Hultcrantz, ; Verver et al, ). The hearing loss progresses with age and is present in nearly all women over 50 years of age (Beckman et al, ; King et al, ; Ros et al, ).…”

Section: Otorhinolaryngologic Aspectsmentioning

confidence: 99%

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

Lin

Prakash

Andersen

et al. 2019

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Turner syndrome is recognized now as a syndrome familiar not only to pediatricians and pediatric specialists, medical geneticists, adult endocrinologists, and cardiologists, but also increasingly to primary care providers, internal medicine specialists, obstetricians, and reproductive medicine specialists. In addition, the care of women with Turner syndrome may involve social services, and various educational and neuropsychologic therapies. This article focuses on the recognition and management of Turner syndrome

show abstract

“…TS is a typical chromosomal situation caused by the loss of part or all of an X chromosome in females ( Lowenstein et al, 2004 ). Recently, many studies have proven that the incidence of secretory otitis media, cholesteatoma, and hearing loss in TS patients is remarkably higher than that of healthy people and has a younger age of onset ( Roush et al, 2000 ; Bonnard et al, 2017 ). Although ear and hearing problems do not endanger the lives of TS patients, they have a certain impact on learning, psychology, and quality of life ( McCarthy and Bondy, 2008 ; Kosteria and Kanaka-Gantenbein, 2018 ).…”

Section: Discussionmentioning

confidence: 99%

Integrative Analyses of Genes Associated With Otologic Disorders in Turner Syndrome

et al. 2022

View full text Add to dashboard Cite

Background: Loss or partial loss of one X chromosome induces Turner syndrome (TS) in females, causing major medical concerns, including otologic disorders. However, the underlying genetic pathophysiology of otologic disorders in TS is mostly unclear.Methods: Ear-related genes of TS (TSEs) were identified by analyzing differentially expressed genes (DEGs) in two Gene Expression Omnibus (GEO)-derived expression profiles and ear-genes in the Comparative Toxicogenomic Database (CTD). Subsequently, Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG), and Disease Ontology (DO) analyses; Gene Set Enrichment Analysis (GSEA); and Gene Set Variation Analysis (GSVA) were adopted to study biological functions. Moreover, hub genes within the TSEs were identified by assessing protein-protein interaction (PPI), gene-microRNA, and gene-transcription factor (TF) networks. Drug-Gene Interaction Database (DGIdb) analysis was performed to predict molecular drugs for TS. Furthermore, three machine-learning analysis outcomes were comprehensively compared to explore optimal biomarkers of otologic disorders in TS. Finally, immune cell infiltration was analyzed.Results: The TSEs included 30 significantly upregulated genes and 14 significantly downregulated genes. Enrichment analyses suggested that TSEs play crucial roles in inflammatory responses, phospholipid and glycerolipid metabolism, transcriptional processes, and epigenetic processes, such as histone acetylation, and their importance for inner ear development. Subsequently, we described three hub genes in the PPI network and confirmed their involvement in Wnt/β-catenin signaling pathway and immune cell regulation and roles in maintaining normal auditory function. We also constructed gene-microRNA and gene-TF networks. A novel biomarker (SLC25A6) of the pathogenesis of otologic disorders in TS was identified by comprehensive comparisons of three machine-learning analyses with the best predictive performance. Potential therapeutic agents in TS were predicted using the DGIdb. Immune cell infiltration analysis showed that TSEs are related to immune-infiltrating cells.Conclusion: Overall, our findings have deepened the understanding of the pathophysiology of otologic disorders in TS and made contributions to present a promising biomarker and treatment targets for in-depth research.

show abstract

Audiometric features in young adults with Turner syndrome

Abstract: 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.

Cited by 15 publications

References 27 publications

A Synopsis of Current Practice in the Diagnosis and Management of Patients with Turner Syndrome in Turkey: A Survey of 18 Pediatric Endocrinology Centers

A Synopsis of Current Practice in the Diagnosis and Management of Patients with Turner Syndrome in Turkey: A Survey of 18 Pediatric Endocrinology Centers

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

Integrative Analyses of Genes Associated With Otologic Disorders in Turner Syndrome

Contact Info

Product

Resources

About