Kallman Syndrome

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Transcript Kallman Syndrome

Kallman Syndrome
or Hypogonadism
Alex Campbell
History
• Discovered in 1944 by German American
Doctor Franz Josef Kallman.
• Correlations between hypogonadism and
ansomia had been made as early as 1856.
What it is
A delay or failure of the afflicted person to
fully go through or even begin puberty.
No sense of smell which is called ansomia
How it happens
• 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
Physical Effects
• 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
Diagnosis
• Usually diagnosed after an unusually long
absence of puberty as well as a realization of
anosmia (no sense of smell)
Treatment
• 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.