Kartagener syndrome with ectodermal anomalies in an adolescent female

Abstract

Background: Kartagener syndrome is a rare autosomal recessive disorder characterized by bronchiectasis, chronic sinusitis, and situs inversus totalis resulting from defective motile cilia. Ectodermal abnormalities involving teeth, hair, and nails are uncommon and may indicate overlap between ciliary dysfunction and ectodermal development. Recognition of this atypical multisystem presentation is important for comprehensive evaluation and understanding possible shared genetic mechanisms. Case summary: A 17-year-old female born to consanguineous parents presented with recurrent productive cough since childhood, progressive hearing loss, delayed eruption and agenesis of permanent teeth, patchy scalp hair loss, and dystrophic nails. Menarche occurred at 13 years of age, followed by regular menstrual cycles and normal secondary sexual characteristics. Examination revealed dextrocardia, bilateral coarse crepitations and rhonchi, multiple absent permanent teeth, gingival atrophy, scarring alopecia, and predominantly pedal nail dystrophy. Chest radiography demonstrated dextrocardia, high-resolution computed tomography showed bronchiectatic changes, and abdominal ultrasonography confirmed situs inversus totalis. Audiometry demonstrated right-sided conductive hearing loss. Endocrine evaluation revealed transient thyrotoxicosis with subsequent spontaneous normalization, attributed to subacute thyroiditis. Genetic and specialized ciliary investigations were unavailable. She received multidisciplinary respiratory, sinus, dental, dermatological, endocrine, psychological, and preventive care, with ongoing follow-up planned. Conclusions: This case highlights a rare overlap of Kartagener syndrome with dental, hair, and nail abnormalities. The combination suggests a possible shared developmental or genetic mechanism and emphasizes the importance of multisystem assessment in atypical ciliary disorders. Genetic evaluation may clarify the underlying genotype and guide counselling and long-term management. [J Assoc Clin Endocrinol Diabetol Bangladesh, 2026;5(Suppl 1): S71]