Otolaryngologic markers for the early diagnosis of Turner syndrome.
OBJECTIVE
To identify and characterize otolaryngologic markers for the early diagnosis of Turner syndrome (TS).


METHODS
Prospective cohort survey.


METHODS



METHODS
Clinical Center of the National Institutes of Health (NIH).


METHODS
Ninety-one females, 7-61 years old (average=28.7 y), enrolled in a multidisciplinary study of karyotype-phenotype correlations in TS.


METHODS
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.
Makishima
Tomoko
T
Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20850-3320, USA.
King
Kelly
K
Brewer
Carmen C
CC
Zalewski
Christopher K
CK
Butman
John
J
Bakalov
Vladimir K
VK
Bondy
Carolyn
C
Griffith
Andrew J
AJ
D000293:Adolescent; D000328:Adult; D002648:Child; D042241:Early Diagnosis; D005260:Female; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D009059:Mouth Diseases / Q000151:congenital / Q000235:genetics*; D010033:Otitis Media / Q000235:genetics*; D010159:Palate / Q000002:abnormalities; D011446:Prospective Studies; D014424:Turner Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D055815:Young Adult