A 17-year-old 46, XY phenotypic female with primary amenorrhea presents with BP 152/94 mmHg, HR 88, RR 16, temp 37°C. Labs show cortisol 3 mcg/dL (low), testosterone 18 ng/dL (low), estradiol <5 pg/mL (low), and elevated deoxycorticosterone at 8 ng/mL. Serum potassium is normal at 4.2 mEq/L. She denies salt craving or hyperpigmentation. Which enzyme deficiency best explains these findings?
- A)21 hydroxylase
- B)11 beta hydroxylase
- C)17 alpha hydroxylaseGABARITO
- D)Aromatase
- E)Tyrosine hydroxylase
Explicação
17 alpha hydroxylase deficiency decreases cortisol and sex steroid synthesis while increasing mineralocorticoid precursors such as deoxycorticosterone. Genetic males can present with undervirilization or phenotypic female appearance, and both sexes develop hyp... Ver explicação completa e trilha adaptativa →