Abstracts for NAPCON 2025

Aardra Prem Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India Introduction: Young syndrome, also known as primary ciliary dyskinesia (PCD) with bronchiectasis, sinusitis, and azoospermia, is a rare autosomal recessive condition. This case report describes the clinical presentation, diagnostic workup, and management of a patient with Young’s Syndrome, emphasizing the importance of early recognition and multidisciplinary care. Case: A 20 year old male, student, with no known comorbidities, presented with complaints of fever since 2 weeks, cough with expectoration since 4 years, breathlessness since 4 years and history of recurrent upper respiratory tract infection since childhood. On examination vitals were stable, Grade II clubbing was present and on auscultation bilateral inspiratory crepitations heard. Chest X-ray showed bilateral lower zone bronchiectatic changes. HRCT Thorax showed Cystic bronchiectasis in bilateral lower lobe bronchial segments. Sputum Culture showed Enterobacter cloacae growth and CBNAAT MTB not detected.Bronchoscopy showed Ectatic segments in right middle and lower lobe. BAL gene xpert MTB not detected.ENT opinion sought for chronic upper respiratory symptoms and was adviced CT Paranasal sinuses- which revealed bilateral maxillary and ethmoidal sinusitis. Scrotal Ultrasonography done -showed prominent bilateral epididymis with tubular ectasia with no obstruction. Semen Analysis no spermatozoa seen. Serum Testosterone, LH, FSH were normal. Patient was diagnosed as a case of Youngs Syndrome based on clinicoradiological features.He was discharged with antibiotics,mucolytics ,adviced chest physiotherapy ,and instructed to Follow up in OPD .He was also explained on vaccination, Genetic Testing and anticipated fertility issues. Conclusions: As Young’s Syndrome links respiratory and reproductive health, it is important not to miss out on its diagnosis and always be considered in differential diagnosis. This case report underscores the need for awareness regarding this rare condition. A comprehensive diagnostic workup, multidisciplinary approach and timely intervention can alleviate symptoms, improve fertility prospects, and enhance overall well-being and quality of life.