7

Kallman Syndrome (2).ppt

Embed Size (px)

Citation preview

Page 1: Kallman Syndrome (2).ppt

Alex Campbell

Page 2: Kallman Syndrome (2).ppt

Discovered in 1944 by German American Doctor Franz Josef Kallman.

Correlations between hypogonadism and ansomia had been made as early as 1856.

HISTORY

Page 3: Kallman Syndrome (2).ppt

A delay or failure of the afflicted person to fully go through or even begin puberty.

No sense of smell which is called ansomia

WHAT IT IS

Page 4: Kallman Syndrome (2).ppt

It’s a recessive trait that causes a genetic mutation at the KAL1 gene.

The KAL gene codes for a cell adhesion molecule which triggers the migration of the sex hormone (GnRH) into the

hypothalamus.

Very rare though affects only 1 in every 10000 males and one in every 50000 females

HOW IT HAPPENS

Page 5: Kallman Syndrome (2).ppt

Incomplete sexual maturation

Males can often have an unusually small penis and undescended testicles, absence of facial hair and deepening

of the voice, erectile dysfunction and infertility.

Females have little to no breast development and suffer from primary amenorrhea

PHYSICAL EFFECTS

Page 6: Kallman Syndrome (2).ppt

Usually diagnosed after an unusually long absence of puberty as well as a realization of anosmia (no sense of smell)

DIAGNOSIS

Page 7: Kallman Syndrome (2).ppt

Usually diagnosed after an unusually long absence of puberty as well as a realization of anosmia (no sense of smell)

Males are administered testosterone while the females are given estrogen and progesterone.

The main health issue associated with KS is osteoperosis (brittle bones). Therefore, patients undergo bone scans every

2- 3 years.

TREATMENT