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ALL / Endocrinology
Kallmann's syndrome
Kallmann's syndrome
Kallmann's syndrome is a recognised cause of delayed puberty secondary to hypogonadotropic hypogonadism. It is usually inherited as an X-linked recessive trait. Kallmann's syndrome is thought to be caused by failure of GnRH-secreting neurons to migrate to the hypothalamus.The clue given in many questions is lack of smell (anosmia) in a boy with delayed puberty.
Features
- 'delayed puberty'
- hypogonadism, cryptorchidism
- anosmia
- sex hormone levels are low
- LH, FSH levels are inappropriately low/normal
- patients are typically of normal or above-average height
Cleft lip/palate and visual/hearing defects are also seen in some patients
Management
- testosterone supplementation
- gonadotrophin supplementation may result in sperm production if fertility is desired later in life
+PassMedicine Notes
Kallmann's syndrome is a recognised cause of delayed puberty secondary to hypogonadotropic hypogonadism. It is usually inherited as an X-linked recessive trait. Kallmann's syndrome is thought to be caused by failure of GnRH-secreting neurons to migrate to the hypothalamus.
The clue given in many questions is lack of smell (anosmia) in a boy with delayed puberty.
Features- 'delayed puberty'
- hypogonadism, cryptorchidism
- anosmia
- sex hormone levels are low
- LH, FSH levels are inappropriately low/normal
- patients are typically of normal or above-average height
Cleft lip/palate and visual/hearing defects are also seen in some patients
Management- testosterone supplementation
- gonadotrophin supplementation may result in sperm production if fertility is desired later in life
