Tag: Kallman Syndrome

Kallman Syndrome

Kallman syndrome

Q. 1

A 20 yr old female presents with primary amenorrhea. She has low LH, FSH, estrodial levels. She has anosmia and no secondary sex characteristics on examination. What is the likely diagnosis?

 A

Kartagener syndrome

 B

Kallman syndrome

 C

Alport’s syndrome

 D

None

Q. 1

A 20 yr old female presents with primary amenorrhea. She has low LH, FSH, estrodial levels. She has anosmia and no secondary sex characteristics on examination. What is the likely diagnosis?

 A

Kartagener syndrome

 B

Kallman syndrome

 C

Alport’s syndrome

 D

None

Ans. B

Explanation:

Kallmann syndrome

  • Kallmann syndrome is caused from defective gonadotropin releasing hormone (GnRH) synthesis.

Clinical features-

  • Anaemia & hyposmia due to olfactory bulb agenesis & hypophasia.
  • Color blindness, optic atrophy, nerve deafness.
  • Cleft palate, cryptoorchidism & mirror movements (neurological defects)
  • In males- delayed puberty, micropenis.
  • In females- primary amenorrhea, failure of secondary sexual development.
  • Low LH & FSH levels & sex steroids.

Quiz In Between



Kallman Syndrome

KALLMAN SYNDROME


KALLMANN SYNDROME

  • Kallmann syndrome is caused from defective gonadotropin releasing hormone (GnRH) synthesis.

Etiology-

  • Genetic abnormalities.

Clinical features-

  • Anaemia & hyposmia due to olfactory bulb agenesis & hypophasia.
  • Color blindness, optic atrophy, nerve deafness.
  • Cleft palate, cryptoorchidism & mirror movements (neurological defects)
  • In males- delayed puberty, micropenis.
  • In females- primary amenorrhea, failure of secondary sexual development.
  • Low LH & FSH levels & sex steroids.

Treatment

  • Hormonal replacement therapy
  • Long term treatment associated chronic gonadotropin (HCG) or testosterone for males.
  • For females, cyclic estrogen & progestin.

Exam Important

  • Kallmann syndrome is caused from defective gonadotropin releasing hormone (GnRH) synthesis.

Clinical features-

  • Anaemia & hyposmia due to olfactory bulb agenesis & hypophasia.
  • Color blindness, optic atrophy, nerve deafness.
  • Cleft palate, cryptoorchidism & mirror movements (neurological defects)
  • In males- delayed puberty, micropenis.
  • In females- primary amenorrhea, failure of secondary sexual development.
  • Low LH & FSH levels & sex steroids.
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