Kallmann Syndrome

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  • X-linked recessive
  • Anomalous migration of fetal GnRH and olfactory neurons
  • Hypogonadotropic hypogonadism + rhinencephalon hypoplasia
    • Short stature
    • Delayed puberty
    • Anosmia/Hyposmia

Diagnosis

  • FSH, LH
  • Normal karyotype

Treatment

Hormonal replacement is required for the development of secondary sexual characteristics, maintain bone mass and improve fertility.