Hearing Growth Defects in Turner Syndrome

  • Rosalba Bergamaschi
  • Cristina Bergonzoni
  • Laura Mazzanti
  • Emanuela Scarano
  • Francesca Mencarelli
  • Valentina Rosetti
  • Francesca Messina
  • Lorenzo Iughetti
  • Alessandro Cicognani


Turner syndrome (TS) is one of the most common chromosomal abnormalities, occurring in about 50 per 100,000 female live births characterized by the total or partial loss of one X-chromosome in all or some cells. Frequently observed manifestations of TS include short stature, lymphedema, cardiac abnormalities, gonadal dysgenesis, dysmorphic features, ear and hearing problems, and a variety of other problems. Conductive hearing loss (CHL) in patients (pts) with TS is due to recurrent otitis media with effusion, chronic middle ear infection, and cholesteatoma probably as the result of malfunction of the Eustachian tube associated with lymphedema and anatomic shortening of the skull base. The high prevalence of middle ear infections and CHL in TS are probably due to growth disturbances of the structures from the first and second branchial arches. Sensorineural hearing loss (SNHL) is also reported in TS and the hearing decline seems to consist of two patterns: a mid-frequency dip (0.5–3 kHz region) (MF-HL) and a high-frequency loss (>3 kHz region) (HF-HL). SNHL is associated with genotype and phenotype. It seems that SNHL in these pts can become clinically evident during childhood or adolescence, progressive with time, and is independent of middle ear diseases. The evaluation in follow-up of hearing impairment shows that the high-frequency HL remained stable in time. Instead, SNHL with typical dip had a progressive decline. The rate of hearing loss is high at all frequencies but most prominent in the mid-frequency region and the presence of a mid-frequency dip is an especially strong predictor for a progressive decline of hearing. Hearing loss (HL) could have an important impact on social functioning for pts with TS. Clinicians proposed a regular audiological follow-up in TS, especially during childhood, to prevent important middle ear anatomic sequelae and to identify HL at an early stage.


Hearing Loss Sensorineural Hearing Loss Eustachian Tube Turner Syndrome Branchial Arch 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Conductive hearing loss


High-frequency HL


Hearing loss


Middle -frequency HL


Secretory otitis media


Short-stature homeobox-containing gene


Sensorineural hearing loss


Turner syndrome


  1. Anderson H, Filipsson R, Fluur E, Koch B, Lindsten J, Wedenberg E. Hearing impairment in Turner’s syndrome. Acta Otolaryngol. 1969;247(S):1–26.Google Scholar
  2. Bergamaschi R, et al. Hearing loss in Turner syndrome: results of a multicentric study. J Endocrinol Invest. 2008;31:779–83.PubMedGoogle Scholar
  3. Barrenas M, Landin-Wilhelmsen K, Hanson C. Ear and hearing in relation to genotype and growth in Turner syndrome. Hear Res. 2000;144:21–8.PubMedCrossRefGoogle Scholar
  4. Barrenas ML, Nylen O, Hanson C. The influence of karyotype on the auricle, otitis media and hearing in Turner syndrome. Hear Res. 1999;138:163–70.PubMedCrossRefGoogle Scholar
  5. Cacciari E, Mazzanti L. Final height of patients with Turner’s syndrome treated with growth hormone (GH). Indications for GH therapy alone at high doses and late estrogen therapy. Italian Study Group for Turner Syndrome. J Clin Endrocrinol Metab. 1999;84:4510–5.CrossRefGoogle Scholar
  6. Coleman JR, Campbell D, Cooper WA, Welsh MG, Moyer J. Related articles, links auditory brainstem responses after ovariectomy and estrogen replacement in rat. Hear Res. 1994;80:209–15.PubMedCrossRefGoogle Scholar
  7. Dhooge IJ, De Vel E, Verhoye C, Lemmerling M, Vinck B. Otologic disease in turner syndrome. Otol Neurotol. 2005;26:145–50.PubMedCrossRefGoogle Scholar
  8. Fish JH III, Schwentner I, Schmutzhard J, Abraham I, Ciorba A, Martini A, Sergi C, Schhrott-Fischer A, Glueckert R. Morphology studies of the human fetal cochlea in turner syndrome. Ear Hear. 2009;30:143–6.PubMedCrossRefGoogle Scholar
  9. Gravholt CH. Epidemiological, endocrine and metabolic features in Turner syndrome. Eur J Endocrinol. 2004; 151:657–87.PubMedCrossRefGoogle Scholar
  10. Gungor N, Boje B, Belgin E, Tunkbilek E. High frequency of hearing loss in Ullrich-Turner syndrome. Eur J Pediatr. 2000;159:740–44.PubMedCrossRefGoogle Scholar
  11. Hederstierna C, Hultcrantz M, Rosenhall U. A longitudinal study of hearing decline in women with Turner syndrome. Acta Oto-Laryngol. 2009;129:1434–41.CrossRefGoogle Scholar
  12. Hultcrantz M. Ear and hearing problems in Turner’s syndrome. Acta Otolaryngol. 2003;123:253–7.PubMedCrossRefGoogle Scholar
  13. Hultcrantz M, Sylven L. Turner’s syndrome and hearing disorders in women aged 16–34. Hear Res. 1997;103:69–74.PubMedCrossRefGoogle Scholar
  14. Hultcrantz M, Sylven L, Borg E. Ear and hearing problems in 44 middle aged women with Turner syndrome Hearing research. Hear Res. 1994;76:127–32.PubMedCrossRefGoogle Scholar
  15. Jerger J, Hall J. Related articles, links effects of age and sex on auditory brainstem response. Arch Otolaryngol. 1980;106:387–91.PubMedCrossRefGoogle Scholar
  16. Jonsson R, Rosenhall U. Related articles, links hearing in advanced age. A study of presbyacusis in 85-, 88- and 90-year-old people. Audiology. 1998;37:207–18.PubMedCrossRefGoogle Scholar
  17. Leheup BP, Perrin P, Perrin C, Pierson M. Otologic signs and early diagnosis of Turner syndrome. Reevaluation of 30 cases. J Genet Hum. 1988;36(4):315–21.PubMedGoogle Scholar
  18. Lin V, Daniel S, James A, Friedberg J. Bilateral cholesteatomas: the hospital for sick children experience. J Otolaryngol. 2004;33:145–50.PubMedCrossRefGoogle Scholar
  19. Lindstein J. The nature and origin of X chromosome aberrations in Turner’s syndrome. Thesis Stockholm, Sweden: Almquist and Wksell; 1963.Google Scholar
  20. Mondini L. “The Anatomical Section of a Boy Born Deef” in Anatomie Surdi nati sectio: De Bononiensi Scientiarum et Artium Institute atque Academie commentarii. Bononiae. 1791;7:419–428.Google Scholar
  21. Morimoto N, Tanaka T, Hidenobu T, HoriKawa R, Naiki Y, Morimoto Y, Kawashiro N. Hearing loss in turner syndrome. J Pediatr. 2006;149:697–701.PubMedCrossRefGoogle Scholar
  22. Roush J, Davenport ML, Carlson-Smith C. Early-onset sensorineural hearing loss in a child with Turner syndrome. J Am Acad Audiol. 2000;11:446–53.PubMedGoogle Scholar
  23. Sculerati N, Ledesma-Medina J, Finegold DN, Stool SE. Otitis media and hearing loss in Turner syndrome. Arch Otolaryngol Head Neck Surg. 1990;116:704–7.PubMedCrossRefGoogle Scholar
  24. Sculerati N, Oddoux C, Clayton CM, Lim JW, Oster H. Hearing loss in Turner syndrome. Laryngoscope. 1996;106:992–7.PubMedCrossRefGoogle Scholar
  25. Sculerati N, Perle MA, Oddoux C, Clayton CM, Ostrer H. X-inactivation and cytogenetic studies in a family with sensorineural hearing loss and Turner syndrome. Otolaryngol Head Neck Surg. 1997;117:S221–5.PubMedCrossRefGoogle Scholar
  26. Serra A, Cocuzza S, Caruso E, Mancuso M, La Mantia I. Audiological range in Turner’s syndrome. Int J Pediatr Otorhinolaryngol. 2003;67(8):841–5.PubMedCrossRefGoogle Scholar
  27. Stenberg AE, Nylen O, Windh M, Hultcrantz M. Otological problems in children with Turner’s syndrome. Hear Res. 1998;124:85–90.PubMedCrossRefGoogle Scholar
  28. Stenberg AE, Wang H, Sahlin L, Stierna P, Enmark E, Hultcrantz M. Estrogen receptors alpha and beta in the inner ear of the ‘Turner mouse’ and an estrogen receptor beta knockout mouse. Hear Res. 2002;166:1–8.PubMedCrossRefGoogle Scholar
  29. Szpunar J, Rybak M. Middle ear disease in Turner’s syndrome. Arch Otolaryngol. 1968;87(1):34–40.PubMedCrossRefGoogle Scholar
  30. Watkin PM. Otological disease in Turner’s syndrome. J Laryngol Otol. 1989;103:731–8.PubMedCrossRefGoogle Scholar
  31. Wharton JA, Church GT. Related articles, links influence of menopause on the auditory brainstem response. Audiology. 1990;29:196–201.PubMedCrossRefGoogle Scholar
  32. Windle-Taylor PC, Buchanan G, Michaels L. The Mondini defect in Turner’s syndrome. A temporal bone report. Clin Otolaryngol Allied Sci. 1982;7:75–80.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Rosalba Bergamaschi
    • 1
  • Cristina Bergonzoni
    • 2
  • Laura Mazzanti
    • 3
  • Emanuela Scarano
    • 3
  • Francesca Mencarelli
    • 3
  • Valentina Rosetti
    • 3
  • Francesca Messina
    • 3
  • Lorenzo Iughetti
    • 4
  • Alessandro Cicognani
    • 3
  1. 1.Department of PaediatricsUniversity of BolognaBolognaItaly
  2. 2.Department of OtolaryngologyUniversity of BolognaBolognaItaly
  3. 3.Department of PaediatricsUniversity of BolognaBolognaItaly
  4. 4.Department of PaediatricsUniversity of ModenaModenaItaly

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