Analysis of KAL-1 gene in patients with Kallmann syndrome and idiopathic hypogonadotropic hypogonadism Tang Development, Department of Urology, Affiliated Hospital of Guizhou Medical University, Guizhou, China Author: Tang Development et al. Source: http://www.asiaandro.com/Abstract.asp?doi=10.1038/aja.2009.52 Objective We aimed to analyze the KAL-1 gene in 17 patients with Kallmann syndrome (KS), 9 patients with idiopathic hypogonadotropic hypogonadism (nIHH) without olfactory impairment, and 20 matched normal males. Methods We collected peripheral blood specimens to extract genomic DNA and used them as templates to design upstream and downstream primers for the KAL-1 gene, which were analyzed by multiplex polymerase chain reaction (PCR) and automated sequencing. Among 17 patients with KS, two patients were found to have exon deletion in the KAL-1 gene, one patient with congenital atrial septal defect was found to have exon 6 deletion in the KAL-1 gene, and another patient with cryptorchidism had both exon 5 and exon 6 deletion in the KAL-1 gene. No abnormalities in the KAL-1 gene were found in any of the 9 patients with nIHH. Conclusion Our study also identified two KS patients with congenital anomalies in other organs who had KAL-1 exon deletions, and therefore, we believe that KAL-1 exon deletions are more common in this group of patients than in other populations reported in the literature.