Kallman's Syndrome

Exam Cram

• Failure of GnRH neurons to migrate to anterior hypothalamus

• Presentation: failure to progress through puberty (primary amenorrhea) + anosmia (male or female)

• Hypog hypog - low FSH/ LH and testosterone

Outline

Background

• Failure of GnRH neurons to migrate causing hypothalamic hypo-gonadotrophism (hypo-hypo)

• Olfactory bulb neurons also fail to develop: anosmia

Presentation

• Failure to enter puberty

  • Male: small penis & testes, reduced pubic hair

  • Female: primary amenorrhea, failure to develop breasts & pubic hair

Ix

• Low FSH, LH and testosterone

• Chromosomes: XY or XX

Management

• GnRH pulsatile (if interested in currently  becoming pregnant)

• Testosterone (if not interested in currently  becoming pregnant)

Differentials

Presentation- puberty failure:

Kallman's Syndrome

• XY 

• Loss of sense of smell

• Male genitalia

Klinefelters

• XXY

• Tall

• Male genitalia

Androgen insensitivity syndrome

• XY

• Males with ambiguous genitalia or 

• Females with bilateral hernias

Turner's Syndrome

• X

• Female

• Short