Unraveling the Enigma: A Rare Case of Recurrent Idiopathic Gynecomastia in an Adolescent.

Gynecomastia presents as abnormal hypertrophy of mammary tissue in males that is typically asymptomatic and usually does not require intervention. Gynecomastia responds well to medical and surgical treatment, when necessary, with low recurrence rates. The authors report an atypical case of recurrent idiopathic unilateral gynecomastia first presenting in an adolescent male. Physical examination, hormonal, and oncologic evaluations were normal. After subcutaneous mastectomy with liposuction and treatment with Tamoxifen at 19 years old, his unilateral gynecomastia recurred over the course of 3 years, requiring a second surgery. Furthermore, we review the literature for recurrent gynecomastia after surgical management to examine prevalence and risk factors.

Predictors of Clinical Outcomes in Adult Laryngotracheal Stenosis.

OBJECTIVES: Sequelae of laryngotracheal stenosis (LTS) can be devastating, often necessitating tracheostomy. This study aims to describe the characteristics and outcomes of patients with LTS and identify risk factors for long-term tracheostomy dependence stratified by etiology. METHODS: A retrospective chart review was performed on 215 patients diagnosed with LTS from 09/01/2011 to 12/31/2020. Patients were grouped based on the cause of LTS. Patient factors were compared to evaluate risk factors for long-term tracheostomy dependence. RESULTS: Of the 215 patients, 129 (60%) were classified as iatrogenic, 41 (19%) idiopathic, 10 (4.7%) cancer treatment, 18 (8.3%) autoimmune, and 17 (8%) patients unknown. Idiopathic patients were significantly less likely to be tracheostomy-dependent compared with iatrogenic patients (p < 0.001) and cancer patients (p < 0.05). The mortality rate did not significantly differ among the categories (p = 0.1078). Significant improvement was seen after treatment, as the median percent of stenosis at presentation was 52.5%, and the median percent of stenosis at the most recent visit was 10% (p < 0.001). The autoimmune group received the most steroid injections (mean = 6.56; SD = 11.96). The idiopathic group had the longest surgery-free interval (mean = 30.8 months; SD = 27.7). CONCLUSION: Iatrogenic and cancer patients were more likely to be tracheostomy-dependent. There was a significant improvement in percent and length of stenosis after treatment, with the idiopathic group having the longest surgery-free interval. Mortality risk did not differ among the different etiologies of LTS. LEVEL OF EVIDENCE: 3 Laryngoscope, 134:257-263, 2024.

Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity.

Purpose: Though copy number variants (CNVs) have been suggested to play a significant role in inborn errors of immunity (IEI), the precise nature of this role remains largely unexplored. We sought to determine the diagnostic contribution of CNVs using genome-wide chromosomal microarray analysis (CMA) in children with IEI. Methods: We performed exome sequencing (ES) and CMA for 332 unrelated pediatric probands referred for evaluation of IEI. The analysis included primary, secondary, and incidental findings. Results: Of the 332 probands, 134 (40.4%) received molecular diagnoses. Of these, 116/134 (86.6%) were diagnosed by ES alone. An additional 15/134 (11.2%) were diagnosed by CMA alone, including two likely de novo changes. Three (2.2%) participants had diagnostic molecular findings from both ES and CMA, including two compound heterozygotes and one participant with two distinct diagnoses. Half of the participants with CMA contribution to diagnosis had CNVs in at least one non-immune gene, highlighting the clinical complexity of these cases. Overall, CMA contributed to 18/134 diagnoses (13.4%), increasing the overall diagnostic yield by 15.5% beyond ES alone. Conclusion: Pairing ES and CMA can provide a comprehensive evaluation to clarify the complex factors that contribute to both immune and non-immune phenotypes. Such a combined approach to genetic testing helps untangle complex phenotypes, not only by clarifying the differential diagnosis, but in some cases by identifying multiple diagnoses contributing to the overall clinical presentation.

Diagnosis and Management of Craniofacial Osteomas.

IMPORTANCE: Osteoid osteomas are benign bony overgrowths that can occur in any region of the body. However, they have a predilection to occur in the craniofacial region. Because of the rarity of this entity, there is a lack of literature detailing the management and prognosis of craniofacial osteoid osteomas. OBSERVATIONS: Craniofacial osteomas have a predilection to involve the paranasal sinuses, but can also be found within the jaw, skull base, and facial bones. Because of their slow-growing nature, craniofacial osteomas are often incidentally discovered on routine imaging or after they compress nearby structures or distort nearby anatomy. Osteoid osteomas of the face can be treated with resection via various approaches. Recent advancements describe minimally invasive endoscopic techniques and adjuvant therapy with radiofrequency ablation guided by cone biopsy computed tomography. Osteoid osteomas have an excellent prognosis with complete resection. They demonstrate a low incidence of recurrence when compared with other osteoblastic lesions of the craniofacial structures. CONCLUSIONS AND RELEVANCE: Craniofacial osteoid osteomas remain a developing topic within the field of craniofacial surgery. Their removal may be trending toward minimally invasive techniques. However, all treatment modalities appear to result in improved cosmetic outcomes and low recurrence rates.

Cross-sectional Evaluation of Neurotology Fellowship Directors: A Present-day Snapshot of Leadership.

Objective: To identify demographic, training, and career trends of neurotology fellowship directors (FDs). Study Design: Cross-sectional study. Setting: United States. Subjects: All 26 neurotology FDs identified using the American Neurotology Society (ANS) ACGME Accredited Neurotology Fellowship Program Directory, accessed November 2021. Main Outcome Measures: Data were collected via CVs, institutional biographies, and emailed questionnaires. Data collected includes age, gender, race and ethnicity, residency and fellowship training institution, time since training completion until FD, length of time as FD, and Hirsch-index (h-index). Results: Twenty-six FDs were identified, and 17/26 (65.4%) FDs responded to the questionnaire. The majority (23/26; 88.5%) were male. The mean age of male and female FDs was 56 versus 47 years, respectively. Of the 17 that responded to the survey, 82.4% (14/17) self-identified as Caucasian. The mean h-index was 25.4. Older age correlated with a higher h-index (r = 0.46, P = 0.019). The duration (mean ± SD, years) from fellowship graduation to FD appointment was 10.7 ± 8.1 and 6.3 ± 4.8 from institutional hire. Six (23.1%) FDs had secondary graduate degrees, and 9 (34.6%) held a leadership position at a national otolaryngology organization. Conclusion: This observational study assesses demographic data on current neurotology FDs in the United States with an analysis of gender disparities. The objective measures identified can provide a baseline for growth in FD leadership.

The Use of Antioxidants in the Prevention and Treatment of Noise-Induced Hearing Loss.

As of today, there are no therapeutic measures for the prevention or treatment of noise-induced hearing loss (NIHL). The current preventative measures, including avoidance and personal protective hearing equipment, do not appear to be sufficient because there is an increasing number of people with NIHL, especially in the adolescent population. Therefore, we must find a therapy that prevents the impact of noise on hearing. Antioxidants are a promising option in preventing the damaging effects of noise by targeting free radicals but further studies are needed to confirm their efficacy in humans.

Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.

BACKGROUND: Prospective genetic evaluation of patients at this referral research hospital presents clinical research challenges. OBJECTIVES: This study sought not only a single-gene explanation for participants' immune-related presentations, but viewed each participant holistically, with the potential to have multiple genetic contributions to their immune phenotype and other heritable comorbidities relevant to their presentation and health. METHODS: This study developed a program integrating exome sequencing, chromosomal microarray, phenotyping, results return with genetic counseling, and reanalysis in 1505 individuals from 1000 families with suspected or known inborn errors of immunity. RESULTS: Probands were 50.8% female, 71.5% were ≥18 years, and had diverse immune presentations. Overall, 327 of 1000 probands (32.7%) received 361 molecular diagnoses. These included 17 probands with diagnostic copy number variants, 32 probands with secondary findings, and 31 probands with multiple molecular diagnoses. Reanalysis added 22 molecular diagnoses, predominantly due to new disease-gene associations (9 of 22, 40.9%). One-quarter of the molecular diagnoses (92 of 361) did not involve immune-associated genes. Molecular diagnosis was correlated with younger age, male sex, and a higher number of organ systems involved. This program also facilitated the discovery of new gene-disease associations such as SASH3-related immunodeficiency. A review of treatment options and ClinGen actionability curations suggest that at least 251 of 361 of these molecular diagnoses (69.5%) could translate into ≥1 management option. CONCLUSIONS: This program contributes to our understanding of the diagnostic and clinical utility whole exome analysis on a large scale.