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.
The lecture Reproductive Case: 17-year-old Woman with Absence of Menarche by Michael Lazarus, MD is from the course Reproductive Endocrine Disorders.
What is the primary diagnosis in the case described below? A 17-year-old young woman is evaluated for absence of menarche. She has an unremarkable medical history and takes no medications. Physical examination: BMI of 21 kg/m2, short stature, webbed neck, and minimal breast development. Laboratory test results: FSH level of 74 mU/mL, beta hCG is undetectable, and normal TSH and prolactin levels. Imaging studies: Pelvic ultrasonography shows a uterus present, but ovaries are difficult to visualize.
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