Reproductive Case: 17-year-old Woman with Absence of Menarche

00:01 Let's start with a case.

00:03 A 17-year old woman is evaluated for the absence of menarche.

00:07 She has undergone minimal breast development.

00:11 Her medical history is unremarkable and she takes no medications.

00:15 Physical exam is significant for short stature and a webbed neck and her BMI is 21.

00:22 Her vital signs and the remainder of the physical exam including pelvic examintion are normal.

00:29 Laboratory studies show of FSH hormone level of 74 mU/mL and a beta HCG level which is undetectable.

00:40 Thyroid stimulating hormone and prolactin levels are normal.

00:45 On pelvic ultrasound, a uterus is present but the ovaries are difficult to visualize.

00:51 What is the primary diagnosis in this case? So as we go through this, we notice that she has not started her periods.

00:59 She's 17 years old and has not achieved menarche.

01:03 We call this primary amenorrhea.

01:07 In conjunction with this, she also has some significant findings on physical exam, she has a webbed neck and a short stature.

01:14 These two in conjunction with the primary amenorrhea really suggests Turner syndrome.

01:20 With this condition, you can also see hearing loss, a bicuspid aortic valve and even aortic coarctation.

01:28 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.

01:39 The conclusion of this case is essentially to do a chromosomal work-up on this patient.

01:45 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.

01:57 This is due to loss of part or all of the X-chromosome.