A fertile male patient with Kallmann syndrome and two missense mutations in the KAL1 gene

Although loss-of-function mutations of the KAL1 gene is associated with the X-linked form of KS, the reproductive capacity remains unidentified in patients with KS with KAL1 gene mutations. Here, we report a male patient who presented the KS phenotype with fertility. The patient's sperm parameters were lower than the reference ranges; however, a son was born through natural conception after 12 months of marriage. Mutation analysis revealed two KAL1 gene mutations. The results provided further support for the hypothesis that patients with KS can achieve normal sexual development and fertility after hCG treatment, and imply that this genotype is more prevalent in reproductive patients with KS than in the other patients with KS and incurable infertility.