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What is A 17 year girl presented with absent thelarche and primary amenorrhea. On examination hypoplastic uterus was present. Investigation showed high FSH. Karyotype is XO. What is the probable diagnosis? and explain in detail?
Gonadal dysgenesis Hypoplastic Uterus Functional ovarian Tissue absent Thelarche absent as it depends on ovarian steroids FSH & LH High: Due to absent negative feedback on pituitary by ovarian hormones i.e.Hypergonadotropic Hypogonadism Pubic and axillary hairs present(Depends on Androgen) External Genitalia Female like(Hypoplastic) Androgen Insensitivity has a normal female phenotype in a genetic male. Adrenal hyperplasia can happen at later age but the Uterus will be present and FSH will be normal. Kallman syndrome is Hypothalamic amenorrhea. Since there is no GnRH, there is no FSH & LH.