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
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| Definition (NCI) | A rare congenital abnormality in which the infant's external genitalia do not have the typical appearance of a male's or female's genitalia. |
| Concepts | Congenital Abnormality (T019) |
| MSH | D012734 |
| ICD10 | Q56.4 |
| SnomedCT | 21321009 |
| English | Ambiguous Genitalia, Ambiguity, Genital, Genitalia, Ambiguous, Genital Ambiguities, Genital Ambiguity, Ambiguities, Genital, genitalia ambiguous, ambiguous genitalia, Genital ambiguity, Ambiguous genitalia, Ambiguous genitalia (disorder), genital organs; ambiguous |
| French | Ambiguïté de l'organe génital, Ambiguïté des organes génitaux, Ambiguïté génitale, Organes génitaux ambigüs, Ambigüité des organes génitaux, Ambigüité génitale, Organe génital ambigü, Ambigüité de l'organe génital |
| German | Nichteindeutige Genitale, Intersexuelle Genitale |
| Czech | obojetné genitálie |
| Norwegian | Tvetydige genitalia |
| Dutch | geslachtsorganen; indifferent |
| Spanish | genitales ambiguos (trastorno), genitales ambiguos |
