A girl at 16 years of age presents with primary amenorrhea. On examination breast development is normal , axillary and pubic hair are present. Vaginal examination reveals an absent vaginal opening. Ultrasound suggests normal ovaries with absent uterus. Most probable diagnosis is?
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 TURNERS IS XO - Near normal female phenotype and streak ovaries. This is the most common type of gonadal dysgenesis.
Androgen insensitivity syndrome
MRKH (Mayer Rokitansky Kuster Hauser Syndrome)
Turners syndrome
Pure gonadal dysgenesis
Intersex