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 males and one in every 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.