Kallmann's syndrome Flashcards
1
Q
Inheritance?
A
X-linked recessive trait
2
Q
Pathophysiology?
A
Kallmann’s syndrome is thought to be caused by failure of GnRH-secreting neurons to migrate to the hypothalamus.
3
Q
Symptoms?
A
- ‘delayed puberty’
- hypogonadism, cryptorchidism
- anosmia
Cleft lip/palate and visual/hearing defects are also seen in some patients
4
Q
Are there any hormone imbalances?
A
- sex hormone levels are low
* LH, FSH levels are inappropriately low/normal
5
Q
What does Kallmann’s syndrome cause?
A
It is a recognised cause of delayed puberty secondary to hypogonadotropic hypogonadism
