Slides from on line patient presentation given by Dr Andrew Dwyer of Boston College, USA in 2019.
Kallmann syndrome / HH can occur with a number of other physical symptoms. These will not be present in every case and will vary from patient to patient. The presense of an additional physical symptom will depend on the precise genetic cause of an individual case.
The lack of the neonatal surge of hormones seen in patients with Kallmann syndrome / CHH can be used as an early diagnostic test, especially in infant boys from 3 to 6 months of age.
Standard hormone replacement therapy aims to restore normal hormone levels in both males and females but does not restore fertility in the majority of cases.
Specialist treatment, known as gonadotropin therapy is normally required to restore fertility to both male and female patients.
