A 21-year-old woman presents with complaints of primary amenorrhea. Her height is 153 cm, weight is 51 kg. She has well developed breasts. She has no pubic or axillary hair and no hirsutism. Which of the following is the most probable diagnosis?
Correct Answer: Complete androgen insensitivity syndrome
Description: Above History Suggest Diagnosis of Androgen Insensitivity Syndrome/Testicular feminization Syndrome XLR ( Karotype Male and Phenotype Female) Testosterone is produced but androgen receptors are defective Affected individuals typically present with Bilateral Testes Breast development Pubic or axillary hair absent Female External genitalia, a blindly ending vagina, No mullerian derivatives (i.e., uterus and fallopian tubes) Because the Patient is a genetic male, testes are present & Seoli cells make antimullerian hormone (AMH), thus, mullerian regression occurs normally ( Reason for absent uterus & tubes in a phenotypic normal female).
Category:
Gynaecology & Obstetrics
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