Turner Syndrome is a genetic disorder
that occurs in girls and women who are
missing one or part of their second sex
chromosome in either all their cells or
part of their cells and this can result
in a variety of different clinical
manifestations. So these can include
cardiac defects, renal abnormalities,
patients can have short stature, they can
have ovarian failure and infertility,
there can also be psychological
manifestations, so there's a higher risk
of anxiety, depression, some mild specific
cognitive manifestations that can occur
as well the mission. The mission of the Turner
Syndrome program is to provide
multi-disciplinary care to girls and
women with Turner Syndrome. We offer
services including endocrinology,
cardiology and nephrology in our clinic
space. As well as we're able to offer
audiology for girls who need hearing
tests we're able to also schedule
psychological services if those are
needed. Another mission of our program is
to allow patients and families to
connect and interact and to network with
one another and also so girls can meet
other girls who have Turner Syndrome and
realize that they're not the only girl
who has this. Our clinic also allows
providers to communicate, so it
improves patient care by allowing
collaboration between providers. So there
are different points at which Turner
Syndrome can be diagnosed and so it
really depends upon the severity of the
manifestations in that patient. If the
phenotype is more severe or if there's
significant cardiac disease, then the
patient likely would be diagnosed very
early, either in utero or after birth.
However, we have a lot of patients who
present with short stature around age
eight to ten is probably the average
time and then their patients who are not
diagnosed until they have issues with
puberty, so that they're not going
through puberty and because of the
ovarian failure. We follow about seventy
girls and women who have Turner Syndrome
and so the size of our population also
allows us to become involved in research.
We are partnering with the TSGA the
Tuner Syndrome Global Alliance to become part
of the redcap program to collect patient
data. Having a patient population of this
size allows us to become involved in
those programs.
