A 16-year-old adolescent raised as a girl presents with primary amenorrhea. She is tall (height 5'10"), has normal breast development (Tanner stage V), but scant pubic hair (Tanner stage II). Vital signs are normal. Pelvic ultrasound reveals absent uterus and fallopian tubes. Karyotype is 46, XY. Serum testosterone is elevated at 450 ng/dL (normal female <70). She denies clitoromegaly. Which of the following is the most likely diagnosis?
- A)Androgen insensitivity syndromeGABARITO
- B)Turner syndrome
- C)Kallmann syndrome
- D)Müllerian agenesis
- E)Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Explicação
Androgen insensitivity syndrome is caused by defective androgen receptors in a 46 XY individual. Testes produce testosterone and anti Müllerian hormone, so there is no uterus, but peripheral aromatization of testosterone supports breast development. Pubic and ... Ver explicação completa e trilha adaptativa →