Ambiguous External Genitalia of an Adolescent Reared as Female

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A 12-year-old adolescent, with ectomorphic innocent feminine appearance, presented with ambiguous genitalia with associated congenital absence of right thumb, scoliosis, severe anaemia, primary amenorrhea. She had normally developed breast without any other secondary sexual charactenshcs. She complained of recurrent episodes of abdominal pain and burning micturition with fever for the last 3 years. There was no vaginal orifice. In the genital area there was a pair of ill developed labia majora fused at upper end with a whirling pattern containing inside the urethral opening.