# Jacob's Syndrome and Hearing Loss: A Case Study

## TL;DR

A four-year-old boy with Jacob's syndrome was found to have hearing loss, highlighting the need for early audiological assessments in such cases to support speech and language development.

## Contribution

This case study is among the few to examine hearing loss in Jacob's syndrome and emphasizes the importance of early audiological evaluation in these patients.

## Key findings

- A four-year-old boy with Jacob's syndrome showed bilateral conductive hearing loss confirmed by multiple audiological tests.
- Medical imaging and audiological findings suggested stapes fixation as a potential cause of the hearing loss.
- Early audiological and otological assessments are recommended for children with Jacob's syndrome to identify hearing impairments.

## Abstract

Jacob's syndrome, or XYY syndrome, is caused by the presence of an extra Y chromosome in each male human cell. Although this extra Y chromosome makes these people taller than the average, they do not show any other unusual physical characteristics. Until now, very few studies have specifically examined the hearing abnormalities of individuals with this syndrome. A four‐year‐old boy with Jacob's syndrome was referred for an auditory assessment due to speech delay. The test battery results revealed a conductive hearing loss bilaterally based on existing air–bone gaps in pure‐tone audiometry, absence of distortion product otoacoustic emissions, and stapedial reflexes. Furthermore, the auditory brainstem responses confirmed a conductive hearing loss, as the interwave interval between waves one, three, and five was normal. Still, the absolute latency of all waves was delayed. These results were consistent with the CT (Computed Tomography) scan images demonstrating stapes footplate fixation. The audiological and imaging findings were supportive of stapes fixation; however, they were not sufficient to establish a definitive etiological diagnosis. Bilateral stapes fixation was suspected in a young boy with Jacob's syndrome. Behavioral, physiological, and electrophysiological hearing assessments indicated mild bilateral conductive hearing loss, with findings that were consistent with and supported by medical imaging. Although the exact etiology of the stapes fixation could not be determined, both congenital and acquired causes were considered. Incorporating comprehensive audiological and otological evaluations into the routine follow‐up of children with Jacob's syndrome may facilitate early identification of hearing impairment, particularly during critical periods of speech and language development.

Early audiological and otological assessment is essential in children with Jacob's syndrome. This case highlights the importance of evaluating conductive hearing loss in syndromic patients, including consideration of stapes fixation as a potential etiology. Early identification of hearing impairment ensures timely management and supports optimal speech and language development outcomes.

Bilateral mild‐to‐moderate hearing loss identified in a child with Jacob’s syndrome (47,XYY). This case highlights the importance of early audiological assessment in children with chromosomal abnormalities to facilitate timely intervention and optimize developmental outcomes.