II. Classification
III. Evaluation
- History
- Family History
- Maternal exposure to toxic agents
- Endogenous androgen production
- Physical Examination
- Ambiguous Genitalia
- Associated congenital anomalies
- Perineal orifice
- Phallic size
- Gonads palpable or not palpable
IV. Imaging
- Pelvic and renal Ultrasound
- Vaginography
V. Labs
- Karyotype
- 17-Hydroxyprogesterone
VI. Approach
- Gonads not palpable, Mullerian structures present, 46XX
- 17 Hydroxyprogesterone Increased
- 21-hydoxylase Deficiency
- Congenital Adrenal Hyperplasia
- Measure:
- Serum Sodium
- Serum Potassium
- Plasma renin activity
- 17 Hydroxyprogesterone Normal or slightly increased
- 17-Hydroxypregnolone
- 11-Deoxycortisol
- 17 Hydroxyprogesterone Increased
- Gonads palpable (46XY or variant)
- Mullerian structure present
- Measure MIH and intermediates of Testosterone
- Administer hcg and re-measure Testosterone
- Mullerian structure absent
- Measure intermediates of Testosterone
- Administer hcg and re-measure Testosterone
- Assess Androgen receptor
- Mullerian structure present
- No diagnosis
- Gonadal biopsy for True Hermaphroditism
VII. Management
- Medical and psychological emergency!
- Evaluation must begin immediately after birth
- Defer sex assignment until etiology identified
- Much more difficult to change a sex assignment later