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Pseudohermaphroditism, Male and Female Updated 4/2010

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BASICS

  • Description
  • Epidemiology
  • Risk Factors
  • General Prevention
  • Pathophysiology
  • Associated Conditions

DIAGNOSIS

  • Signs and Symptoms
  • Tests
  • Differential Diagnosis

TREATMENT

  • Medication (Drugs)
  • Surgery
  • Additional Treatment | Radiotherapy

Ongoing Care

  • Prognosis
  • Complications
  • Follow-Up Recommendations
The following is an excerpt....
BASICS
Description
  • Pseudohermaphrodite is an older expression that referred specifically to conditions in which the phenotypic sex was inconsistent with the gonadal sex.
  • Disorders of sexual development (DSDs) the more general preferred term today, which refers to congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical.
  • Female pseudohermaphrodite (now called 46 XX DSD):
    • Karyotype 46XX
    • Gonads: Histologically normal ovaries
    • External genitalia: Varying degrees of masculinization
    • Causes:
      • CAH is most common cause in females. Results from block in cortisol synthesis pathway with exogenous virilization
      • Other causes: Progestational agents given in the 1st trimester; virilizing tumors such as maternal ovarian/adrenal tumors
  • Male pseudohermaphrodite (now called 46 XY DSD):
    • Karyotype: 46XY
    • Gonads: Histologically normal testes
    • External genitalia: Incomplete ...

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