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What is A 16-year-old girl comes to you with primary amenorrhea; on evaluation there is absent breast development, she has a normal stature, her FSH and LH levels are found to be high & she has a karyotype of 46XX. What is the probable diagnosis ? and explain in detail?
The probable diagnosis in this case is Gonadal dysgenesis. 46,XX and 46,XY gonadal dysgenesis without the phenotype of Turner's syndrome is described as "pure gonadal dysgenesis". Pure gonadal dysgenesis It is characterized by the presence of primary amenorrhea with or without normal secondary sexual characteristics. Other options : Testicular feminization : As the name suggests, it happens only in a genetic male, that is karyotype XY. Kallmann syndrome : It is a form of hypogonadotropic hypogonadism where in there is reduced synthesis of GnRH in the hypothalamus; hyposmia/anosmia; low FSH, low LH. Turner syndrome : The karyotype 45 XO can be suggestive of Turner syndrome, but as it is invariably associated with sho stature, this diagnosis can be ruled out in this case.