Otolaryngologic markers for early diagnosis of turner syndrome

Abstract

Problem: Turner syndrome (TS) affects up to one in 2,000 live female births and is characterized by the total or partial loss of one X chromosome in females with short stature and gonadal dysgenesis. Less penetrant features include sensorineural hearing loss (SNHL), otitis media (OM), pterygium colli, and craniofacial dysmorphism. We report the otolaryngologic features observed in a TS cohort. Methods: A cohort with a wide spectrum of phenotypic severity has been prospectively ascertained through a multidisciplinary study of genotype-phenotype correlation in TS at the National Institutes of Health. Subjects were evaluated by otolaryngologic examination, pure tone and speech audiometry, tympanometry, and stapedial reflex testing. Results: Ninety-nine TS patients (age range, 7 to 61 years; average, 30 ) with an average age at diagnosis of 10 years old (range, prenatal to 38 years) were studied. Sixty-three percent of the subjects had a high-arched or a peaked, ogival hard palate. Seventy-one percent had a history of recurrent OM and 64% had SNHL. Cross-sectional analysis revealed 2 predominant patterns of SNHL: adult-onset SNHL affecting high frequencies, and childhood-onset SNHL, initially affecting high or middle frequencies, with eventual progression to severe impairment across all frequencies. Conclusion: Diagnosis of TS is often delayed until the second decade or later. Almost all TS patients, even the least affected individuals with no external craniofacial stigmata of TS, had at least 1 of 3 otolaryngologic findings: recurrent OM, SNHL, and high-arched or ogival palate. Significance: The diagnosis of TS is often missed in female children presenting with OM and short stature. In association with a high-arched or ogival palate, or SNHL, these features are useful clinical markers for the initial detection and timely treatment of TS patients. Support: NIH intramural research funds Z01-DC-000064-03 and NICHD DIR Protocol 00-CH-0219.