Testicular Feminization Case Study
Testicular feminization
A 22 year old married female comes to endocrinologist for evaluation, she want to have kids but has not attained her menarche (primary amenorrhea). She also noticed a mass in the right groin (undescended testis), not associated with pain. No c/o vomiting, abdominal pain or any other associated complication. She also have frequent back pain and knee joint pains (osteoporosis).
She went for a gynecological check-up, and was told that she has a blind ending vagina with no palpable cervix.
On examination- B/l breasts and areola normal appearing, absence of pubic and axillary hair, clitoromegaly seen. E/o mass in right inguinal canal at superficial inguinal ring (cryptorchidism) - s/o right testis.
Labs- increased LH, FSH and testosterone, increase in DHT. Chromosomal analysis - 46XY. …show more content…
USG pelvis- no e/o uterus and ovary in the peritoneal cavity, with blind ending vagina.
Diagnosis- primary amenorrhea due to testicular feminization.
Treatment- Genetic counseling the patient and family members, continue to treat her a female. Right orchidectomy of undescended testis and search for intraabdominal testis and resect.
Discussion- Testicular feminization syndrome also known as Androgen Insensitivity Syndrome, is an X-linked recessive disorder of sexual differentiation. Baby born at birth is genetically male with 46 XY but phenotypically present as female. At puberty they attain secondary sexual characteristics with cryptorchidism. It is due to mutation in AR gene present on X-chromosome which is unresponsive to androgen stimulation leading to failure masculinization of external
genitalia.
A 22 year old married female comes to endocrinologist for evaluation, she want to have kids but has not attained her menarche (primary amenorrhea). She also noticed a mass in the right groin (undescended testis), not associated with pain. No c/o vomiting, abdominal pain or any other associated complication. She also have frequent back pain and knee joint pains (osteoporosis).
She went for a gynecological check-up, and was told that she has a blind ending vagina with no palpable cervix.
On examination- B/l breasts and areola normal appearing, absence of pubic and axillary hair, clitoromegaly seen. E/o mass in right inguinal canal at superficial inguinal ring (cryptorchidism) - s/o right testis.
Labs- increased LH, FSH and testosterone, increase in DHT. Chromosomal analysis - 46XY. …show more content…
USG pelvis- no e/o uterus and ovary in the peritoneal cavity, with blind ending vagina.
Diagnosis- primary amenorrhea due to testicular feminization.
Treatment- Genetic counseling the patient and family members, continue to treat her a female. Right orchidectomy of undescended testis and search for intraabdominal testis and resect.
Discussion- Testicular feminization syndrome also known as Androgen Insensitivity Syndrome, is an X-linked recessive disorder of sexual differentiation. Baby born at birth is genetically male with 46 XY but phenotypically present as female. At puberty they attain secondary sexual characteristics with cryptorchidism. It is due to mutation in AR gene present on X-chromosome which is unresponsive to androgen stimulation leading to failure masculinization of external
genitalia.