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15 Yr Girl with Primary Amenorrhea

8K views 5 replies 6 participants last post by  Anders 
#1 ·
A 15-year old girl brought to the physician by her mother because she has not begun menstruating. She is otherwise healthy and has no medical problem. Vitals signs are within normal limits. Physical examination shows absence of breast development and no pubic hair is seen. Examination shows no other abnormalities. Ultrasound confirms the presence of uterus. Which of the following is the most appropriate next step in management ?

A. Estrogen level
B. MRI of pituitary
C. Serum FSH level
D. Karyotyping
E. GnRH stimulation test
F. Reassurance

Please add reasoning .Its A Qbank Q
 
#4 ·
A 15-year old girl brought to the physician by her mother because she has not begun menstruating. She is otherwise healthy and has no medical problem. Vitals signs are within normal limits. Physical examination shows absence of breast development and no pubic hair is seen. Examination shows no other abnormalities. Ultrasound confirms the presence of uterus. Which of the following is the most appropriate next step in management ?

A. Estrogen level --> no breasts, so you know it's low
B. MRI of pituitary --> never do imaging before hormones in endocrinology
C. Serum FSH level --> Correct ANSWER!
D. Karyotyping ---> it's not Turner (they would give you more hints in the description like webbed neck, cardiac murmur, streak ovaries in ultrasound...)
E. GnRH stimulation test --> never the first to do, first need to know if hormone levels are normal.
F. Reassurance --> wrong as she's 15 and has no secondary sexual charact.

Please add reasoning .Its A Qbank Q
I hope this helps.
 
#5 ·
C
uworld and master the boards step 3 have a nice logic behind this.

If no breast is absent but there is uterus present you have to first order FSH level.
If no breast is present but uterus is present and they give you clues to Turners then you do a karyotype first.

If you have breast and uterus present you workup as secondary amenorrhea

  • imperforate hymen.
  • Vaginal Septum
  • Anorexia nervosa and excessive exercise (vigorexia).
If you have Breast present and Uterus absent you have to workup for either Mullerian agenesis or Complete Androgen insensitivity syndrome

Mullerian vs Complete androgen insensitivity syndrome

  • Mullerian agenesis has an XX karyotype with normal estrogen and testosterone levels;ovaries are present only Mullerian structures are not.
  • Complete androgen insensitivity syndrome: XY genotype, no axillary or pubic hair and you have testes instead of ovaries.
Hope this helps to clear some things up!
 
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