• PMID: 19734936
• Gene Name: KAL1
• Condition: Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
• Association: Associated
• Population size: 2
• Population details: 2 cases
• Sex: Male
• Infertility type: Male infertility

Molecular analysis of KAL-1 in a series of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism patients from Northwestern China

Tang KF, Wu QF, Zou TJ, Xue W, Wang XY, Xing JP.

We conducted an analysis of the Kallmann syndrome 1 (KAL-1) genotype in 17 patients with Kallmann syndrome (KS), 9 patients with normosmic idiopathic hypogonadotropic hypogonadism (nIHH) and 20 age-matched normal men in Northwestern China. To do this, we used multiplex PCR analysis with exon-flanking primers and automated sequencing techniques with peripheral blood DNA samples. Intragenic deletions were found at the KAL-1 locus in two KS patients. One case with an atrial septal defect exhibited an intragenic deletion of exon 6. Another KS patient with cryptorchidism had intragenic deletions of exons 5 and 6. For the nIHH patients, no abnormalities were observed in the exonic and flanking sequences of KAL-1. This report describes two intragenic deletions of KAL-1 in two KS patients and suggests that KAL-1 deletion might be more prevalent in KS patients with other congenital organ abnormalities than those described previously in other series from Northwestern China. FAU - Tang, Kai-Fa AU - Tang KF AD - Department of Urology, The First Affiliated Hospital, School of Medicine, Xi'an Jiaotong University, Xi'an 710061, China. FAU - Wu, Qi-Fei AU - Wu QF FAU - Zou, Tie-Jun AU - Zou TJ FAU - Xue, Wei AU - Xue W FAU - Wang, Xin-Yang AU - Wang XY