A 21-year-old woman presents with a 2-year history of progressive facial hirsutism, acne, and irregular menses occurring every 45-65 days. She denies medication use and reports no recent weight changes. Vital signs are normal. On examination, she has coarse dark hair on the face, chest, and lower abdomen; acne is present on the face and upper back. Pelvic ultrasound shows normal ovaries without cysts. Laboratory studies show: Sodium: 141 mEq/L Potassium: 4.2 mEq/L Fasting glucose: 97 mg/dL 17-hydroxyprogesterone: 390 ng/dL (normal 20-300) Testosterone: 91 ng/dL (normal 8-60) Cortisol (16:00 h): 2.8 μg/dL (normal 2-8) Prolactin: 14 ng/mL (normal <25) LH:FSH ratio: 2.1 (normal <2.5) Urine pregnancy test is negative. Which of the following pathophysiologic mechanisms best explains this patient's clinical presentation?
- A)Increased intra-adrenal conversion of precursors to androgens due to 21-hydroxylase deficiencyGABARITO
- B)Primary gonadal failure with secondary elevation of pituitary gonadotropins
- C)Prolactin-secreting pituitary microadenoma suppressing GnRH release
- D)Exogenous anabolic steroid abuse with suppressed endogenous testosterone
- E)Functional ovarian hyperandrogenism from increased ovarian LH receptor sensitivity
Explicação
This patient has classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, the most common form of CAH. The elevated 17-hydroxyprogesterone is the hallmark diagnostic finding—it is the substrate that accumulates proximal to the enzymatic b... Ver explicação completa e trilha adaptativa →