Mol. Hum. Reprod. Advance Access originally published online on January 9, 2007
Molecular Human Reproduction 2007 13(3):165-170*; doi:10.1093/molehr/gal108
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KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans
1 Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, Dallas, TX 2 Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, The Medical College of Georgia 3 Developmental Neurobiology Program, The Institute of Molecular Medicine and Genetics, The Medical College of Georgia, Augusta, GA 4 Pediatric Endocrinology, Department of Pediatrics, University of Chicago, Chicago, IL 5 Division of Medical Genetics, Department of Pediatrics, Department of Obstetrics and Gynecology, Medical College of Wisconsin, Milwaukee, WI 6 Genetics and IVF Institute, Fairfax, VA 7 Reproductive Medicine Program, The Institute of Molecular Medicine and Genetics, The Medical College of Georgia, Augusta, GA, USA 8 GATA Haydarpasa Training Hospital, Department of Endocrinology, Istanbul Turkey
9 To whom correspondence should be addressed at: Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, The Medical College of Georgia, 1120 15th Street, Augusta, GA 30912-3360, USA. E-mail: Llayman{at}mcg.edu
Hypogonadotrophic hypogonadism results in the absence of puberty and if left untreated leads to infertility. Mutations in KAL1 are known to account for some of the cases of Kallmann syndrome. The aim of this study was to determine the prevalence of KAL1 mutations in a large number of patients with idiopathic hypogonadotrophic hypogonadism (IHH). One hundred and thirty eight patients (109 males and 29 females) with IHH were studied for mutations in KAL1. DNA from these patients was subjected to denaturing gradient gel electrophoresis or single strand conformation polymorphism to identify mutations. Sequencing was performed to confirm mutations detected. Four mutations were found in 109 males (3.7%). All four mutations were in anosmic/hyposmic men making the prevalence 4/63 (6.3%) in this group of patients. No mutations were found in the 29 female patients. KAL1 mutations are an uncommon cause of Kallmann syndrome.
Key words: gene mutation/hypogonadotrophic hypogonadism/idiopathic hypogonadotrophic hypogonadism/KAL1 gene/Kallmann syndrome
* N.B. An error was made in the initial online pagination of Molecular Human Reproduction 13/3. The page span of this article was originally shown as 25–30. The publisher wishes to apologise for this error.
Submitted on November 14, 2006; resubmitted on November 8, 2006; accepted on November 12, 2006.