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What is A 15 years old female presents with primary ammenorrhea. Her breasts are normally developed but she has no axillary or public hair. The most likely diagnosis is : and explain in detail?
Testicular feminizing syndrome Genotype is 46XY, Phenotype is female The gonads are testes often present in the inguinal canal. Gonads produce testosterone and Mullerian inhibiting substance, but because of androgen insensitivity at target organs, patients have Lack of axillary and pubic hair and normally developed breasts Absent uterus and upper vagina May have a blind pouch of lower vagina Mullerian agenesis : karyotype of 46 XX present with normal secondary sexual characters and functional ovaries (Rokitansky syndrome). a normal hormone profile. is associated with renal and skeletal abnormality in 30% of the cases. These women do ovulate, and appropriate management requires creation of a functional vagina for coital purposes. If they plan to have children, it may be through surrogacy. Ref: SHAW'S TEXTBOOK OF GYNAECOLOGY; 15th edition; Pg no:286