UF Health Turner Syndrome Program

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.

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