Other Disorders of Sexual Development

• Other disorders of sexual development

  • Testicular Feminization Syndrome
  • Sertoli Cell-Only Syndrome
  • Kallmann Syndrome
  • Athlete's Triad
• Testicular Feminization Syndrome

  • Most severe form of androgen resistance syndrome
  • Results in lack of testosterone action in target tissues
  • Genotypically XY
  • No utility or response to administration of exogenous testosterone
  • Physical Development: Female phenotype w/ fully-developed breasts and female distribution of fat & hair

  
• Testicular Feminization Syndrome Lab Results:

  NORMAL: testosterone

  INC: FSH, LH
• Sertoli Cell-Only Syndrome

  AKA:

  • Germ cell Aplasia
  • Del Castillo Syndrome

  Characterized by lack of germ cells

  
• Sertoli Cell-Only Syndrome

  S/Sx: Men present w/ small testes

  Lab Results:

  NORMAL: FSH, Azoospermia

  INC: Testosterone

  Confirmatory Test: Testicular biopsy
• Kallmann Syndrome

  • Result of inherited XLR trait that manifests as hypogonadism during puberty
  • Males > females
  • Associated defects
  • Anosmia
  • Midline defects (cleft lip, palate)

  
• Kallmann SyndromeS/SxMALE:

  • Small testes
  • Erectile Dysfunction
  • Dec libido
  • Oligo / azoospermia

  FEMALE:

  • Amenorrhea
  • Absence of menses
  • incomplete/absent dev’t of breasts

  
• Athlete's Triad

  Condition involving 3 manifestations affecting both males and females w/ chronic hypogonadism

  MALES:

  • Bone loss
  • Impaired reproductive system
  • Low energy

  FEMALES:

  • Bone loss
  • Amenorrhea
  • Eating disorders
• Dehydroepiandrosterone (DHEA)

  • Principal androgen formed by the adrenal cortex
  • Weak androgen
  • Valuable in assessment of adrenal cortical function