Endocrinology Book

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Ambiguous Genitalia

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  1. Classification
    1. True Hermaphroditism
    2. Male Pseudohermaphroditism
    3. Female Pseudohermaphroditism
  2. 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
  3. Imaging
    1. Pelvic and renal ultrasound
    2. Vaginography
  4. Labs
    1. Karyotype
    2. 17-Hydroxyprogesterone
  5. 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
  6. 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

Ambiguous genitalia (C0266362)

ConceptsCongenital Abnormality (T019)
EnglishAmbiguous genitalia
Spanishgenitales ambiguos
Parent Concepts[X]Congenital malformations of genital organs (C0158687), Perineal finding (C0577286), Congenital anomaly of perineum (C1290473)
SourcesOMIM, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)



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