Objective: To investigate the possibility that a mutation in the human EMX2 gene may be involved in Kallmann's syndrome.
Design: In vitro experiment.
Setting: Academic Medical Center.
Patients: One hundred and twenty patients with Kallman's syndrome or idiopathic hypogonadotrophic hypogonadism (IHH).
Intervention: Peripheral blood leukocytes were used to obtain DNA.
Main outcomes measures: Single-stranded conformational polymorphism (SSCP) analysis was used to identify possible mutations of the EMX2 gene.
Results: One hundred and twenty patients with Kallmann's syndrome or IHH, had no mutations noted in this gene.
Conclusion: It is unlikely that EMX2 mutations are a clinically significant cause of IHH or Kallman's syndrome.