A 15-year-old girl c/o failure to attain menarche. Her height is 4 feet. She has not yet developed secondary sexual characteristics. If USG shows uterus and vagina. FSH and LH levels are high. What is the best step in confirming the diagnosis?
Perform a CT
Perform a Karyotype
Perform a buccal smear
Perform progesterone withdrawal test
Ans. is b, i.e. Perform a karyotype1st step in primary amenorrhea is to identify the site of lesion by doing Hormonal profileIn question : LH and FSH are highUSG: shows uterus and vagina are presentPt has short height (4 feet)No secondary sexual characteristicsNow since LH and FSH are high and estrogen is low (as secondary sexual characteristics are absent)[?] It is a case of hypergonadotropic hypogonadism --so most probably it is Turners syndrome. This can be confirmed by doing karyotyping.Always remember in Primary amenorrhea1st Test: Hormonal ProfileBest Test: Karyotyping
Disorders in Menstruation