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Medical AI Inquiry: You were designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.
user
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
assistant
The correct answer 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