Let's start with a case.
A 17-year old woman is evaluated
for the absence of menarche.
She has undergone minimal
Her medical history is unremarkable
and she takes no medications.
Physical exam is significant for short
stature and a webbed neck and her BMI is 21.
Her vital signs and the remainder of the physical
exam including pelvic examintion are normal.
Laboratory studies show of FSH
hormone level of 74 mU/mL
and a beta HCG level
which is undetectable.
Thyroid stimulating hormone and
prolactin levels are normal.
On pelvic ultrasound, a uterus is present
but the ovaries are difficult to visualize.
What is the primary
diagnosis in this case?
So as we go through this, we notice
that she has not started her periods.
She's 17 years old and has
not achieved menarche.
We call this primary amenorrhea.
In conjunction with this, she also has some
significant findings on physical exam,
she has a webbed neck
and a short stature.
These two in conjunction with the primary
amenorrhea really suggests Turner syndrome.
With this condition, you can also see hearing loss,
a bicuspid aortic valve and even aortic coarctation.
Turner's syndrome should be considered in
women with primary or secondary amenorrhea,
particularly those who have short stature and
where the FSH is elevated as in this case.
The conclusion of this case is essentially
to do a chromosomal work-up on this patient.
Clinically, we are very
suspicious of Turner syndrome
but we need to confirm it by doing
what's called the karyotype analysis,
which will reveal the classic
45, XO chromosome pattern.
This is due to loss of part
or all of the X-chromosome.