Otolaryngologic Markers for Early Diagnosis of Turner Syndrome

Abstract

Objective-To identify and characterize otolaryngologic markers for the early diagnosis of Turner Syndrome (TS).Study Design-Prospective cohort survey. Setting: Clinical Center of the National Institutes of Health (NIH).Patients: Ninety-one females, 7 -61 years old (average = 28.7 y), enrolled in a multidisciplinary study of karyotype-phenotype correlations in TS. Main Outcome Measures:Age at diagnosis, X chromosome karyotype, history of chronic or recurrent otitis media (OM), sensorineural hearing loss (SNHL), palate dysmorphism, pinna deformity, pterygium colli, low posterior hairline, low-set ears, and micrognathia.Results-Sixty-nine (76%) patients had a history of chronic or recurrent OM, 62 (68%) had a dysmorphic palate, 57 (63%) had SNHL, and 90 (99%) had one or more of these findings. 83 (91%; average age at diagnosis = 9.4 y) had one or more external craniofacial signs: pinna abnormalities, pterygium colli, low-set ears, micrognathia or a low posterior hairline. Eight patients (average age at diagnosis = 13.2 y) had no external craniofacial signs, although seven (88%) of these eight patients had a history of chronic or recurrent OM, dysmorphic palate or SNHL. The age at diagnosis was not significantly different between groups with or without external craniofacial signs (P = 0.126).Conclusions-Patients with mild or incompletely penetrant TS phenotypes often present with otitis media, hearing loss, or both before the diagnosis of TS is established. Palatal dysmorphism, including ogival morphology, is another otolaryngologic marker for TS. Prompt recognition of these manifestations of TS could hasten its diagnosis and appropriate medical care.

Otologic and audiologic features of ethnic Chinese patients with Turner syndrome in Taiwan

“…22 According to several studies, the incidence of SNHL among different age groups in TS patients varies from 9% to 83% (Table 1). 12,20 Our study showed a relative low incidence (17.4%, age range: 5e34 years), similar to the incidence (19%, age range: 6e25 years) reported by Serra and others. 11 The fact that most of our patients were teenagers (mean age 17.3 years) likely explains a lower incidence of SNHL when compared with other studies involving young and middle-age women.…”

“…2e20 The reported incidence of recurrent OM varies from 12% to 91%, 16,20 although the exact cause remains unknown. According to a large-scale population study (200 cases), approximately 50% of TS patients suffer from hearing loss with conductive, sensorineural, or mixed pattern.…”

Ear and hearing problems in relation to karyotype in children with Turner syndrome

“…CTscanning (Dhooge et al, 2005) could not demonstrate anomalies of the inner ear or vestibular system responsible for the hearing loss. Only one study showed hypoplastic lateral semicircular canals by CT-scanning in two TS patients with SNHL (Makishima et al, 2009).…”

“…Many TS patients have an abnormal craniofacial morphology. A retarded development of the cranial skeleton, an unusual downward slope of the external auditory canal and palatal anomalies such as a high arched palate are frequently seen (Anderson et al, 1969;Filipsson et al, 1965;Gungor et al, 2000;Makishima et al, 2009;Midtbo et al, 1996;Sculerati et al, 1990). These findings have impact on the Eustachian tube function causing recurrent middle ear infections.…”