Background/Objectives: Auditory neuropathy is a form of hearing loss marked by preserved outer hair cell function and abnormal or absent auditory brainstem responses. Monogenic causes play a significant role in its aetiology. This systematic review aims to identify the genetic causes of auditory neuropathy reported in the literature and to determine the diagnostic yield of genetic testing in affected individuals. Methods: A systematic search of MEDLINE, Embase, and PubMed was conducted. Studies were included if participants had a diagnosis of auditory neuropathy and if genetic testing results were reported with variant interpretation based on American College of Medical Genetics and Genomics criteria. Results/Discussion: Twenty-nine studies involving 441 children and adults with auditory neuropathy were included. Overall, 21 different genes and 136 pathogenic and likely pathogenic variants were found to be causative of auditory neuropathy, with both syndromic and non-syndromic presentations. Variants in OTOF were the most common cause, responsible for 59% of all genetic diagnoses found. A genetic diagnosis was confirmed in 195 of 362 individuals who underwent genetic testing, resulting in a diagnostic yield of 54%. After adjusting for study bias and new gene associations with AN, the diagnostic yield was 31%. Conclusions: This review identifies gene and variant-level associations with auditory neuropathy that enhance our understanding of the condition. It highlights the high diagnostic yield of genetic testing in auditory neuropathy which supports consideration of genetic testing early in the diagnostic pathway. A genetic diagnosis may support precision-based approaches to treatment, including cochlear implants and participation in gene therapy trials.

Sensory processing abnormalities represent a high-impact clinical feature in individuals with Autism Spectrum Disorder (ASD). Sensory alterations can be classified by modality and behavioral responses to stimuli. The literature presents conflicting results regarding the association between the sensory profile and other clinical elements. Therefore, this study aimed to characterize the clinical variables that influence sensory anomalies in subjects with ASD.

Osteosarcoma of the head and neck is an uncommon malignancy with heterogeneous clinical and radiological presentations, often leading to diagnostic challenges. Its occurrence during pregnancy further complicates management due to the need to balance maternal and fetal outcomes. We report the case of a 23-year-old pregnant woman who initially presented with right-sided otalgia, managed as otitis externa. She subsequently developed a rapidly progressive, highly vascular mass protruding through the external auditory canal, associated with conductive hearing loss and vestibular symptoms. Magnetic resonance imaging revealed an aggressive lesion involving the external auditory canal, middle ear, and mastoid air cells and extending to the dura of the middle and posterior cranial fossae. An initial biopsy performed at 17.5 weeks of gestation was suggestive of cholesteatoma. However, due to clinical progression, surgical resection via mastoidectomy was performed. Definitive histopathological analysis revealed a high-grade spindle cell and epithelioid sarcoma with osteoid formation, consistent with osteosarcoma. The patient developed early recurrence with intracranial progression, requiring multidisciplinary management. Radiotherapy was initiated at 28 weeks of gestation, followed by termination of pregnancy at 29 weeks due to maternal oncologic progression and oligohydramnios. Systemic chemotherapy was subsequently administered, achieving a partial response. In our case, the lesion was initially approached as a benign otologic condition, which delayed definitive diagnosis despite imaging findings suggestive of aggressive disease. Both clinical evaluation and initial histopathological assessment failed to establish the correct diagnosis. This case also underscores the complexity of oncologic decision-making during pregnancy and the critical importance of a multidisciplinary approach.

Diabetic populations are predisposed to atypical, or sometimes silent, responses to myocardial ischemia. This is often the result of chronic neuropathy involving the nociceptive sympathetic pathways of the heart that converge at the T1-T4/5 spinal columns. When these signals are blunted, ischemic pain signals may be delivered via the "Arnold's nerve," the auricular branch of the vagus that innervates the external auditory canal. A 70-year-old woman with a history of type 2 diabetes (diagnosed 14 years before presentation), hypertension, hyperlipidemia, and chronic obstructive pulmonary disease presented to the urgent care for a 24-hour history of left ear pain. Following a negative otoscopic exam, she was advised to apply warm compresses and use Tylenol. The subsequent day, she developed intractable nausea, vomiting, and generalized weakness. Emergency medical services were notified and en route identified an acute inferior ST-elevation myocardial infarction (STEMI) via 12-lead electrocardiogram. Emergent left heart catheterization revealed total right coronary artery occlusion, which resolved after deployment of two drug-eluting stents. Her symptoms of left ear pain and nausea resolved postintervention, and she was discharged the following day. This case thus underscores an exceedingly rare but critical anginal equivalent in diabetics, left otalgia.

External auditory canal cholesteatoma is a rare and potentially destructive otologic condition characterized by the accumulation of keratinizing squamous epithelium within the external auditory canal, leading to progressive bony erosion. Despite being described in the 19th century, EACC remains an uncommon and frequently underrecognized entity, often misdiagnosed as keratosis obturans or chronic otitis externa. Its pathogenesis is multifactorial and incompletely understood, involving impaired epithelial migration, chronic microtrauma, local inflammation, and ischemic changes of the canal skin. Clinical presentation is usually nonspecific and includes otalgia, otorrhea, aural fullness, and conductive hearing loss, contributing to diagnostic delay. Otoscopic examination typically reveals keratin debris associated with focal bone exposure. High-resolution computed tomography of the temporal bone plays a key role in evaluating bony erosion and disease extent; however, it lacks specificity for definitive tissue characterization, and magnetic resonance imaging may be useful in selected cases for differential diagnosis. We report the case of a 25-year-old patient with no relevant medical history who presented with persistent unilateral otorrhea of 3 months' duration, associated with severe otalgia and progressive hearing loss. A comprehensive clinical and radiological assessment suggested the diagnosis of primary external auditory canal cholesteatoma, which was subsequently confirmed by histopathological examination. The patient underwent surgical management with favorable clinical and functional outcomes. This case highlights the importance of a multidisciplinary diagnostic approach and early stage-adapted management to prevent complications and reduce the risk of recurrence.

The relationship between auditory input and cognitive development is fundamental, as early sensory deprivation can impair social communication and mimic neurodevelopmental disorders. Comprehensive audiological assessment is critical for children suspected of autism spectrum disorder to prevent "diagnostic overshadowing," where behavioral symptoms of hearing loss-such as social withdrawal and speech delay-are mislabeled as neurodevelopmental deficits. Although autism spectrum disorder involves social communication deficits under DSM-5 criteria, congenital progressive sensorineural hearing loss often presents with similar clinical features. Enlarged vestibular aqueduct syndrome is the most common congenital inner ear anomaly associated with progressive hearing loss and must be considered in differential diagnoses. This report describes a patient in his early teens, misdiagnosed with autism spectrum disorder for 8 years, whose diagnosis was corrected to enlarged vestibular aqueduct syndrome based on high-resolution imaging. Early identification is vital for timely interventions such as cochlear implantation.

Noise-induced hearing loss (NIHL) is a sensorineural disorder that provokes complex neuroplastic and neurodegenerative changes within the central nervous system (CNS). This study investigated the temporal dynamics of neuronal density, axonal integrity and glutamatergic and GABAergic neurotransmission in the central inferior colliculus (CIC) and the ventral medial geniculate body of the thalamus (MGV) after NIHL. To achieve this, a correlative multimodal approach combining audiometric, magnetic resonance imaging (MRI) and histological biomarkers was performed. Adult mice were noise-exposed to broadband white noise (5-20 kHz) for 3 h at either high (115 dB SPL) or moderate (90 dB SPL) intensity, while unexposed mice served as controls. Separate cohorts of mice were investigated 1, 7, 56 and 84 days post-exposure using in vivo magnetic resonance imaging (MRI) techniques: Voxel-based morphometry (VBM) of gray matter density (GMD), diffusion MRI (dMRI) of microstructural connectivity, and proton magnetic resonance spectroscopy (1H-MRS) for glutamate and GABA quantification. Frequency-specific auditory brainstem responses (ABR) were recorded at 4, 8, 16 and 32 kHz before and after exposure to examine hearing threshold (HT) shifts. Brains were subsequently processed for fluorescence immunohistochemistry (FIHC) targeting NeuN, DAPI, NF, VGAT, VGLUT1 and VGLUT2. Mice exposed to 115 dB exhibited sustained HT elevations up to 84 days, suggesting a NIHL phenotype. Neurofilament (NF) expression significantly increased in the CIC and MGV 1d after 115 dB noise exposure, suggesting early axonal stress followed by normalization. dMRI alterations were observed 7d after 90 dB noise exposure. Glutamate and GABA decreases 84d after 90 dB exposure were also detected by 1H-MRS. No consistent changes in GMD or neuronal density were observed. Correlation analyses revealed weak relationships across audiometric, MRI and histological parameters. Overall, these findings reveal rapid neuroplastic adaptations following NIHL, and underscore the need for more sensitive biomarkers to detect early CNS consequences of NIHL.