A girl at 16 years of age, presents with primary amenorrhea. On examination, breast development is normal, axillary and pubic hair are sparse, vagina is normal. USG revealed absent uterus and solid nodular structures in B/L inguinal regions. Diagnosis is?
MRKH Androgen insensitivity syndrome Genotype XX XY sex of rearing Female Female Breast development Normal (estrogen effect) Normal Pubic and axillary hair Normal Absent (insensitivity to testosterone) Gonad Normal ovary Testis Uterus Absent Absent Risk of gonadal malignancy None Increased Gonadectomy Not required Recommended after attaining pubey LEARNING TIP: MRKH (MULLERIAN AGENESIS) IS XX BUT DOESN'T HAVE MULLERIAN COMPONENT (UTERUS AND VAGINA). NORMAL OVARY (IT IS NOT MULLERIAN) - ESTROGEN - NORMAL SECONDARY SEXUAL CHARACTERS - FEMALE PHENOTYPE ANDROGEN INSENSITIVITY IS XY, TESTES ARE PRESENT, BUT BODY IS RESISTANT TO TESTOSTERONE (NO AXILLARY N PUBIC HAIR) - NORMAL SECONDARY SEXUAL CHARACTERS - FEMALE PHENOTYPE TURNERS IS XO - STREAK GONADS - ABNORMAL FEMALE PHENOTYPE
Androgen insensitivity syndrome
MRKH
Turners syndrome
Pure gonadal dysgenesis
Intersex