A 5-year-old girl complains of failure to attain menarche. Her height is 4 feet inches, secondary sexual characteristics are absent. If on USG uterus and vagina are seen LH and FSH levels are high. What is the next best step in conforming the diagnosis?
Correct Answer: Karyotyping
Description: Ans. is a, i.e. KaryotypingThe patient has short stature and secondary sexual characteristics are absent:If secondary sexual characteristics are absent, it means there is less of estrogen. This could be due to a problem in ovary or hypothalamus and pituitary.So the first step would be to identify the type of hypogonadism [?] Ans is perform a hormonal profile then the next step would be karyotypingBest test for 1deg amenorrhea: KaryotypingThis is because:M/c cause of 1deg amenorrhea Gonadal dysgenesis: Turner syndrome (45XO)2nd cause of 1deg amenorrhea: Mullerian agenesis (46XX)3rd cause of 1deg amenorrhea: Testicular feminizing syndrome (46XY)All 3 can be differentiated by karyotypingIn this question:1. Pt has decreased estrogen - Absent secondary sexual characteristics2. Short stature3. |LH and | FSHMost probably it is a case of Turner syndrome (45XO)
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Gynaecology & Obstetrics
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