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

by Michael Lazarus, MD

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    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.

    About the Lecture

    The lecture Reproductive Case: 17-year-old Woman with Absence of Menarche by Michael Lazarus, MD is from the course Reproductive Endocrine Disorders.

    Included Quiz Questions

    1. Webbed neck
    2. Absent uterus on pelvic ultrasound
    3. Normal ovaries on pelvic ultrasound
    4. Elevated cortisol levels
    5. Abnormal karyotype

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

     Michael Lazarus, MD

    Michael Lazarus, MD

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