III. Evaluation

  1. History
    1. Family History
    2. Maternal exposure to toxic agents
    3. Endogenous androgen production
  2. Physical Examination
    1. Ambiguous Genitalia
    2. Associated congenital anomalies
    3. Perineal orifice
    4. Phallic size
    5. Gonads palpable or not palpable

IV. Imaging

  1. Pelvic and renal Ultrasound
  2. Vaginography

V. Labs

  1. Karyotype
  2. 17-Hydroxyprogesterone

VI. Approach

  1. Gonads not palpable, Mullerian structures present, 46XX
    1. 17 Hydroxyprogesterone Increased
      1. 21-hydoxylase Deficiency
      2. Congenital Adrenal Hyperplasia
      3. Measure:
        1. Serum Sodium
        2. Serum Potassium
        3. Plasma renin activity
    2. 17 Hydroxyprogesterone Normal or slightly increased
      1. 17-Hydroxypregnolone
      2. 11-Deoxycortisol
  2. Gonads palpable (46XY or variant)
    1. Mullerian structure present
      1. Measure MIH and intermediates of testosterone
      2. Administer hcg and re-measure testosterone
    2. Mullerian structure absent
      1. Measure intermediates of testosterone
      2. Administer hcg and re-measure testosterone
      3. Assess Androgen receptor
  3. No diagnosis
    1. Gonadal biopsy for True Hermaphroditism

VII. Management

  1. Medical and psychological emergency!
  2. Evaluation must begin immediately after birth
  3. Defer sex assignment until etiology identified
    1. Much more difficult to change a sex assignment later

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Ontology: Ambiguous Genitalia (C0266362)

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