Hostname: page-component-6766d58669-kn6lq Total loading time: 0 Render date: 2026-05-18T06:40:26.301Z Has data issue: false hasContentIssue false
  • English
  • Français

Hearing loss and fluctuating hearing levels in X-linked hypophosphataemic osteomalacia

Published online by Cambridge University Press:  18 February 2008

G Pantel ,
R Probst ,
M Podvinec  and
N Gürtler
G Pantel
Affiliation:
Department of Otorhinolaryngology, Kantonsspital Aarau AG, Switzerland Department of Otorhinolaryngology, University Hospital Basel, Switzerland
R Probst
Affiliation:
Department of Otorhinolaryngology, University Hospital Basel, Switzerland
M Podvinec
Affiliation:
Department of Otorhinolaryngology, Kantonsspital Aarau AG, Switzerland
N Gürtler*
Affiliation:
Department of Otorhinolaryngology, Kantonsspital Aarau AG, Switzerland Department of Otorhinolaryngology, University Hospital Basel, Switzerland
*
Address for correspondence: Dr Nicolas Gürtler, HNO Klinik, Kantonsspital AG 5001 Aarau, Switzerland. Fax: +41 62 838 51 09 E-mail: nicolas.guertler@ksa.ch
Get access Rights & Permissions [Opens in a new window]

Abstract

Background and objective:

X-linked hypophosphataemic osteomalacia is the most common of the genetically determined forms of osteomalacia. The occurrence of hearing loss in X-linked hypophosphataemic osteomalacia has been known since 1984. However, observations on the progression of such hearing loss, and suggestions regarding possible therapy, have not previously been published.

Methods:

Case report of a patient with X-linked hypophosphataemic osteomalacia and hearing loss, with three years' audiological follow up, description of empirical therapy and literature review.

Results:

The patient presented with fluctuating hearing. An audiogram showed mild to severe sensorineural hearing loss mainly in the low and high frequencies. A temporary improvement of 20–40 dB after steroid therapy was observed. Four weeks later, hearing had deteriorated again, mainly in the low frequencies. After one year of fluctuating hearing levels, stabilisation occurred.

Conclusions:

In X-linked hypophosphataemic osteomalacia, hearing loss occurs predominantly in the low and high frequencies. The hearing loss type and progression pattern point to an endolymphatic hydrops as the pathogenetic mechanism. Steroid therapy may be of some benefit.

Keywords

X-linked Dominant Hypophosphataemic RicketsOsteomalaciaSensorineural Hearing Loss

Information

Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 123 , Issue 1 , January 2009 , pp. 136 - 140
Copyright
Copyright © JLO (1984) Limited 2008

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Article purchase

Temporarily unavailable

References

1 Davies, M, Kane, R, Valentine, J. Impaired hearing in X-linked hypophosphataemic (vitamin-D-resistant) osteomalacia. Ann Intern Med 1984;100:230–2Google Scholar
2 Rauch, F, Schoenau, E. Skeletal development in premature infants: a review of bone physiology beyond nutritional aspects. Arch Dis Child Fetal Neonatal Ed 2002 March;86(2):F82–5CrossRefGoogle ScholarPubMed
3 O'Malley, SP, Adams, JE, Davies, M, Ramsden, RT. The petrous temporal bone and deafness in X-linked hypophosphataemic osteomalacia. Clin Radiol 1988;39:528–30Google Scholar
4 Consortium, HYP. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet 1995;11:130–6Google Scholar
5 Meister, M, Johnson, A, Popelka, GR, Kim, GS, Whyte, MP. Audiologic findings in young patients with hypophosphatemic bone disease. Ann Otol Rhinol Laryngol 1986;95:415–20Google Scholar
6 Plontke, S. Gestörtes Hören, Konservative Verfahren. Laryngorhinootologie 2005;84(Suppl. 1):S1–36Google Scholar
7 Nesbitt, T, Coffman, TM, Griffiths, R, Drezner, MK. Crosstransplantation of kidneys in normal and Hyp mice. Evidence that the Hyp mouse phenotype is unrelated to an intrinsic renal defect. J Clin Invest 1992;89:1453–9Google Scholar
8 Boneh, A, Reade, TM, Scriver, CR, Rishikof, E. Audiometric evidence for two forms of X-linked hypophosphatemia in humans, apparent counterparts of Hyp and Gy mutations in mouse. Am J Med Genet 1987;27:997–1003Google Scholar
9 Francis, F, Strom, TM, Hennig, S, Boddrich, A, Lorenz, B, Brandau, O et al. Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. Genome Res 1997;7:573–85Google Scholar