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Turner Syndrome

Turner Syndrome and its Effects on Hearing Loss

Lisette Jackson
Louisiana State University Health Sciences Center

Turner Syndrome

Turner syndrome (TS) can cause a variety of developmental problems, including short
stature, failure to start puberty, infertility, heart defects, and hearing loss. TS affects only
females, as a result of an absent or partially absent sex chromosome (the X-chromosome). It
affects 1 in 2,000 to 1 in 5,000 live female births, or approximately 1.5 million females
worldwide (Oliveira et al., 2013). TS may lead to a history of ear and hearing problems in
females, which could lead to hearing loss.
Turner syndrome, or Ullrich-Turner syndrome, is a congenital disease that is caused by a
total or partial deletion of one X-chromosome. Every cell in the human body contains 22 pairs
of autosomal chromosomes, and one pair of sex chromosomes. Normal females have two Xchromosomes and males have a Y and an X chromosome. TS is a result of the variation in the
sex chromosomes. Monosomy 45,X occurs when a female has only one X-chromosome in all
cells, and occurs in approximately 50% of cases (Verver et al., 2011). Patients with monosomy
have only 45 chromosomes, instead of the usual 46. Monosomy is usually caused by
nondisjunction, or the failure of chromosome pairs to separate properly during cell division of an
egg or sperm. This results in a zygote with only one X-chromosome. The deletion of an Xchromosome may be maternal or paternal, although most women with TS have a paternal
deletion (Collin, 2006). As cell division occurs, all other cells will have only one Xchromosome. Thirty to forty percent of TS patients have a mosaicism, where the X-chromosome
is missing in some cells and present in others (Verver et al., 2011). Mosaicism leads to two or
more chromosomally different cell lines. In other TS cases, both X-chromosomes are present,
but one may be abnormal. It may have a ring-shape or have a deletion of the short or long arm of
the X-chromosome. In most cases, TS is a sporadic event. Usually, the parents have normal

Turner Syndrome

chromosomes, and there is a low risk of recurrence in subsequent pregnancies. The degree to
which women with TS are affected is determined by the specific chromosomal abnormality.
Genetic testing for TS may be employed when there are a number of typical physical
features observed. Some physical signs of TS include such as webbed neck, and short stature.
Identification of TS may be made at birth during ultrasound because of heart problems, an
unusually wide neck or swelling of the hands and feet (Oliveira et al., 2013). Diagnosis can be
confirmed in prenatal testing through amniocentesis or chorionic villus sampling. It is also
common for girls to be diagnosed later in life. Slow growth rate and the failure to undergo
puberty may lead to identification (Sera et al., 2013). Diagnosis is then confirmed by genetic
testing. A blood sample can be used to make a karyotype of the chromosomes, and the diagnosis
may be confirmed. The delay of diagnosis may be due to the variance of expression.
TS manifests itself in a number of ways. TS usually does not affect intelligence. Physical
signs include edema (puffy hands and feet), webbed neck, low hairline, low-set ears, widespaced nipples, arms that turn out at the elbows, short stature, and low birth weight. Short
stature is one of the main features of TS that begins in utero. Women with TS are often 21 cms
shorter than the normal population at a height of 142 cms (Collin, 2006). Short stature is often
treated with growth hormones. Women with TS also incur a variety of health issues, including
cardiovascular disease, renal malformations, hypothyroidism, diabetes mellitus, dyslipidemia,
hypertension, and osteoporosis (Verver et al., 2011). The most common health issue women with
TS face is ovarian dysgenesis, a developmental disorder of the reproductive system causing
infertility (Collin, 2006). Ovarian dysgenesis causes a progressive loss of the germ cells of the
gonads, and prevents puberty. Collin (2006), explains that over 90 percent of girls with Turner
syndrome will have ovarian failure and will therefore require the induction of puberty

Turner Syndrome

Oestrogen therapy is given to develop secondary sexual characteristics, and later progesterone is
added to establish monthly menstrual cycles. Women who are unable to conceive may possibly
use in vitro fertilization or other fertility treatments. Expression of TS is variable, and may lead
to short stature and ovarian dysgenesis.
TS may cause the expression of ear anomalies. The external ear anomalies include
cupped auricles, low-set ears, abnormally protruding ears, and narrowing of the external auditory
canal (Verver et al., 2011). A study by Sera et al. (2003) found more than half of patients with
TS displayed a low position of the auricle that was longer than normal size. The Short Stature
HomeoboX (SHOX) gene, which is one of the genes on the missing X-chromosome, is a key
controller of developmental growth. Oliveira et al. (2013) explain the SHOX gene is expressed
within the first and second pharyngeal arches of the embryo from 6 weeks of gestation onward.
These arches develop into the maxilla, mandible, and ossicles of the middle ear and into the
muscles involved in opening the Eustachian tube, dampening sounds. Verver et al. (2010)
found that hearing loss was present in 71% of children with TS. The lack of development not
only affects stature and puberty, but also the development of the structures in the ear, which may
cause hearing loss.
Conductive hearing loss (CHL) is often seen in young women with TS. Many TS
patients have an abnormal craniofacial morphology. Delayed development and abnormal
craniofacial structures can lead to improper drainage of the external auditory canal. Delayed
development of the temporal bone may also cause Eustachian tube dysfunction, causing
recurrent middle ear infections (Oliveira et al., 2013). Chronic or recurrent otitis media is
frequently in females with TS, which usually causes a CHL. A study by Morimoto et al. (2006)
found that approximately 25% of females with Turner syndrome had a mild-to-moderate CHL

Turner Syndrome

due to otitis media. Serra et al. found a much larger presence of CHL (42.8%), caused by otitis
media in 33.3% and chronic otitis media in 9.5%. Insertion of drainage tubes should be
considered to prevent a CHL due to otitis media.
The majority of women with TS develop a sensorineural hearing loss (SNHL). Morimoto
et al. (2006) report 60% of women with TS develop some degree of SNHL. The causes of SNHL
in patients with TS are often attributed to karyotype, age, and even height. The degree of hearing
loss varies with the expression of the syndrome and a patients karyotype. Morimoto et al.
(2006) explain the presence of SNHL in TS: Because specific growth-regulating genes such as
short stature homeobox-containing (SHOX) genes are located on the short arm (p-arm) of the Xchromosome, X chromosomal aberrations could induce a delayed cell cycle, resulting in fewer
sensory cells in the cochlea at birth in cases with 45,X compared with 46, XX, resulting in
cochlear growth disturbance. The absence of the SHOX genes may be the cause of SNHL in
women with TS; however, the source of the hearing loss is debated. Research has found that the
degree of the X-chromosome deletion affects the level of SNHL experienced by a TS patient.
The average hearing thresholds are approximately 10 dB worse in women with a monosomy, as
compared to those with a mosaicism or structural anomaly (Verver et al., 2011). This is an
indication that a patients karyotype may be used as a predictor of hearing impairment. Most TS
audiograms display the characteristic sensorineural mid-frequency dip. The dip is found in the
2000 Hz region with an average depth of 25 dB HL (Verver et al., 2011). Patients with
monosomy were also found to possess a higher degree of age-related hearing loss, or
presbycusis, at high frequencies (Morimoto et al., 2006). Height is often referenced as a
prediction of hearing loss in women with TS. A study by Morimoto et al. (2006) found air
conduction thresholds were found to be lower in women who were taller. These results are likely

Turner Syndrome
attributed to the level of X-chromosome abnormality and the presence or absence of the SHOX
gene. While the cause is debatable, many women with TS experience a SNHL that varies in
expression with X-chromosome abnormality.
Turner syndrome is a lifelong condition that affects over a million females around the
world. The prognosis of TS is good. Women with TS are expected to have a normal life span
with consistent health monitoring. Patients are susceptible to a number of chronic conditions,
including heart defects. Other conditions include short stature, delay or absence of puberty,
infertility, and hearing loss. Expression of these symptoms varies with type of X-chromosome
abnormality. Generally, patient with monosomy of the X-chromosome experience a higher
degree of symptoms than those with a mosaicism. Multi-disciplinary care and follow-up are
necessary for women with TS to prevent or treat future complications.

Turner Syndrome
References:
Collin, J. (2006). An introduction to Turner syndrome. Paediatric Nursing, 18(10), 3843.
Morimoto, N., Tanaka, T., Taiji, H., Horikawa, R., Naiki, Y., Morimoto, Y., &
Kawashiro, N. (2006). Hearing loss in Turner syndrome. The Journal Of
Pediatrics, 149(5), 697-701.
Oliveira, C., Ribeiro, F., Lago, R., & Alves, C. (2013). Audiological

Abnormalities in Patients With Turner Syndrome. American Journal Of Audiology, 22(2),

226-232. doi:10.1044/1059-0889(2013/11-0027).
Serra, A., Cocuzza, S., Caruso, E., Mancuso, M., & La Mantia, I. (2013). Audiological
range in Turner's syndrome. International Journal Of Pediatric
Otorhinolaryngology, 67(8), 841-845.
Verver, E. J., Freriks, K., Thomeer, H. M., Huygen, P. M., Pennings, R. E., Alfen-van der
Velden, A. M., & ... Kunst, H. M. (2011). Ear and hearing problems in relation to
karyotype in children with Turner syndrome. Hearing Research, 275(1-2), 81-88.
doi:10.1016/j.heares.2010.12.007.