Updated: 3/5/2019

Kallmann Syndrome

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Snap Shot
  • A 15 year-old male does not demonstrate any signs of puberty. He is short for his age, his testicles show no evidence of enlargement, his testosterone levels are low, and he has a reduced ability to smell.
Introduction
  • Type of congenital hypogonadotropic hypogonadism with associated dysfunction of olfactory bulbs 
  • Associated with numerous genes (e.g., KAL1, KAL2, etc.)
  • Failed migration of GnRH producing neurons from developping brain including passage to the cribiform plate
  • Lack of GnRH results in 
    • ↓ LH, FSH, testosterone, sperm count
 
Presentation
  • Cases can represent a range of symptoms and severity
  • Non-reproductive features
    • hypogonadotropic hypogonadism
    • anosmia/hyponosmia
    • cleft palate/craniofacial defect
    • urogenital tract abnormalities
    • syndactyly
  • Reproductive features
    • failure to start or fully complete puberty
    • lack of testicle development
    • primary amenorrhea
    • poorly defined secondary sexual characteristics
    • infertility
Treatment
  • Hormone replacement
    • exogenous estrogen in females
    • exogenous testosterone in men
  • Goals of therapy
    • develop secondary sex characteristics
    • build and sustain normal bone and muscle mass
    • fertility
 

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Questions (2)
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(M1.EC.14.73) A 16-year-old male comes to his doctor worried that he has not yet gone through puberty. He feels that his genitals are less developed than they should be for his age. On physical exam, you note an absence of facial hair and that his voice has not yet deepened. Your exam confirms that he is Tanner Stage 1. On a thorough review of systems, you learn that the patient has lacked a sense of smell from birth. Which of the following is implicated in the development of this patient's underlying condition? Tested Concept

QID: 106548
1

Chromosomal duplication

11%

(2/18)

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Expansile suprasellar tumor

11%

(2/18)

3

Exposure to radiation

0%

(0/18)

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Failure of normal neuronal migration during development

33%

(6/18)

5

Defect in steroid production

28%

(5/18)

M 1 D

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