Menstrual Disorders & Infertility · NEET PG Preparation Obstetrics & Gynaecology
A 25-year-old woman presents with primary amenorrhea, normal breast development, but absent uterus and upper vagina on pelvic examination and ultraso…
Practice question from Menstrual Disorders & Infertility (NEET PG Preparation Obstetrics & Gynaecology), with the correct answer and a step-by-step solution.
medium · MCQ · Q-3AB994
A 25-year-old woman presents with primary amenorrhea, normal breast development, but absent uterus and upper vagina on pelvic examination and ultrasound. Her serum testosterone level is in the normal male reference range, and her karyotype is 46,XY. What is the diagnosis?
- A.Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome
- B.Androgen Insensitivity Syndrome (AIS)Correct answer
- C.Turner syndrome
- D.Pure gonadal dysgenesis
Solution
Androgen Insensitivity Syndrome (complete AIS) presents as primary amenorrhea in a phenotypic female with 46,XY karyotype, blind-ending vagina, absent uterus, and testes (often in the labia or inguinal canal) producing male-range testosterone, which is aromatized to estrogens, causing normal female breast development.
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