A baby girl presents with bilateral inguinal masses, thought to be hernias but are found to be testes in the inguinal canals. Which karyotype would you expect to find in the child?
- This baby girl with bilateral inguinal masses (testis) is probably suffering from Androgen insensitivity syndrome, where karyotype is 46,XY 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).
46,XX
46,XY
46,XXY
47,XXY
Disorders of Pubey