A 16-year old girl presents with primary amenorrhea, on examination has a blind vaginal pouch with absence of uterus. Investigation to be done is
The patient with primary amenorrhea, here is phenotypic female with absent vagina and uterus 3 possibilities here Mullerian agenesis : 46 XX Testicular feminization : 46 XY Swyer syndrome : 46 XY A Karyotyping will be the best to differentiate between the three. MRKH Androgen insensitivity syndrome Genotype XX XY Gonad Ovaries Testes Breast development Normal Normal Pubic and axillary hair Normal Absent (insensitivity to testosterone) Vagina Shallow and blind Shallow and blind Uterus Absent Absent Vulva Normal Normal Sr Androgen levels 20-80 ng/dl 200-800 ng/dl
Prolactin levels
Karyotyping
IVP
FSH levels
Mullerian Abnormalities