Kallman Syndrome or Hypogonadism

1. Kallman Syndrome or Hypogonadism Alex Campbell

2. History • Discovered in 1944 by German American Doctor Franz Josef Kallman. • Correlations between hypogonadism and ansomia had been made as early as 1856.

3. 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

4. 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

5. 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

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

7. 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.