A 21 year old woman with a height of 153cm, weight of 51kg presents with primary amenorrhea. On examination, she has well developed breasts, no pubic or axillary hair and does not have hirsuitism. Which of the following represents the most probable diagnosis?
Correct Answer: Complete Androgen Insensitivity Syndrome
Description: Primary Amenorrhea with absent uterus, normal breasts and scant pubic hair is consistent with a diagnosis of Androgen Insensitivity Syndrome. Complete Androgen Insensitivity Syndrome is an X linked disorder, only 46XY offspring are affected if the mother is a carrier of mutation. In this syndrome, the individual has normal level of circulating androgens, but their effect on target tissue is negligible due to dysfunctional androgen receptors. These individuals are phenotypically females with breast development, normal female external genitalia, blind ending vagina, absent uterus, tubes, cervix and upper 2/3rd vagina, scanty pubic hair, with gonads in the labia or inguinal canal. Ref: Animal Homosexuality: A Biosocial Perspective By Aldo Poian, Page 163 ; Textbook of Gynecology By DC Dutta 4th Edition, Pages 405, 406, 421-3 ; Clinical Guidelines For Advanced Practice Nursing: An Interdisciplinary By Saxe, 2nd Edition, Page 158.
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