Genetic etiologies are the most common cause of pre-lingual hearing loss and deafness. Identification of a genetic diagnosis of hearing loss allows for tailored medical and audiological management as well as genetic counseling. In this session, two genetic case studies will be presented by interdisciplinary teams including otolaryngologists, mid-level providers, and genetic counselors. Presenters will describe the characteristics of the genetic diagnoses as well as implications for treatment and management of these patients.
The audience will see two case studies:
1. The first case is a six-year-old male who recently underwent cholesteatoma surgery. A complicated case in that this patient had a congenital cholesteatoma and stigmata of branchiotorenal syndrome. Of great interest, the patient’s mother had the same findings. This is an extremely rare case and likely represents an inherited condition.
2. The second case reviews the early genetic diagnosis of DFNX2 hearing loss which was critical in subsequent management and counseling of the patient and family.
Upon completion of this course, participants will be able to:
1. Describe the characteristics of BOR syndrome.
2. Develop a diagnosis and treatment plan for patients exhibiting signs and symptoms of BOR syndrome.
3. Summarize key features of DFNX2 (POU3F4-related hearing loss) and impact on surgical management, audiologic habilitation, and family counseling.
4. Illustrate interdisciplinary approach to caring for patient with genetic diagnosis of hearing loss.