Session: SAT 498-531-Female Repro Endocrinology & Case Reports
Poster Board SAT-501
Turner syndrome (TS) is caused by complete or partial absence of one X-chromosome. The disease spectrum is dominated by short stature, estrogen deficiency and dysmorphic features. Ear and hearing problems are frequently reported in TS. Conductive hearing loss is mainly seen in childhood, whereas adult patients are more prone to develop sensorineural hearing loss. Since hearing problems seem to be more prevalent in patients with monosomy 45,X and the isochromosome karyotype, the locus for hearing impairment in TS may be located on the short arm of the X-chromosome (Xp). The aim of this study was to evaluate the karyotype-specific ear- and hearing problems in adult TS patients and also to assess the effects of previous treatment with oxandrolone (Ox).
Materials and methods
The current investigations were part of a follow-up study of the Dutch Turner Oxandrolone trial. During the trial, girls were treated with growth hormone (GH) combined with placebo (Pl), Ox 0.03 mg/kg/day, or Ox 0.06mg/kg/day from the age of eight, and estrogen from the age of twelve. Sixty-eight women participated in the current study (mean age 24.0y, mean time since stopping GH 8.7y, mean time of Ox/Pl use 4.9y). All ears were examined according to standard clinical practice. Air conduction (AC) thresholds and bone conduction (BC) thresholds were measured in dB hearing level (db HL) at (0.25,) 0.5, 1, 2, 4, and 8 kHz according to standard audiometric methods (ISO 389).
In this population 65% of the patients had one or more external ear anomalies. We found hearing loss in 66% of the ears. Pure sensorineural hearing loss was found in 32% of the ears. Concerning the influence of Ox on hearing we found that mean AC- and BC thresholds were not different between the three treatment groups (Pl, Ox 0.03 and Ox 0.06). Hearing thresholds in general were about 10 db worse in adults with a monosomy or isochromosome compared to those with a mosaicism.
In this young adult population we show that TS patients frequently have eardrum- and middle ear pathology and that many of them suffer from hearing loss. These findings indicate that in adult TS patients, careful follow-up to detect ear and hearing problems is necessary, especially for those with 45,X and isochromosome. Oxandrolone, which has a positive effect on growth, has no long-term effects on hearing.
Nothing to Disclose: KF, EJV, TCS, PLH, RJP, DFS, ARMMH, LAM, JMW, BJO, JAV, SMM, VT, RJA, HJT, HPK
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