Author/Authors :
Ahmadzadeh، Atefeh نويسنده Department of Medical Genetics, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran , , Ghods، Elahe نويسنده Department of Medical Genetics, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran , , Mojarrad، Majid Majid نويسنده Department Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran Mojarrad, Majid Majid , Aboutorabi، Robab نويسنده Department of Endocrinology Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran , , Afkhamizadeh، Mojgan نويسنده Department of Endocrinology Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran , , Bonakdaran، Shokoofeh نويسنده Department of Endocrinology Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran , , Mosavi، Zohreh نويسنده Department of Endocrinology Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran. , , Taghavi، Seyed Morteza نويسنده Department of Endocrinology Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran , , Hassanzadeh-Nazarabadi، Mohammad نويسنده Medical Genetics Department, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran Hassanzadeh-Nazarabadi, Mohammad
Abstract :
Idiopathic hypogonadotropic hypogonadism (IHH) is a condition caused by low doses of hypothalamic gonadotropin-releasing hormone (GnRH) leading to absence or incomplete sexual maturation. One of the disorders leading to IHH is Kallmann syndrome which is characterized by GnRH deficiency with anosmia or hyposmia. This disorder generally occurs as a hereditary syndrome with X-linked recessive inheritance pattern. However, autosomal dominant or recessive and sporadic cases have also been reported. KAL1 is the most common mutated gene among these patients. The aim of this study was to determine the mutation spectrum of KAL1 gene in twenty patients. KAL1 exons were amplified by PCR method and the products were assessed by high resolution melting (HRM) technique. In addition, for one of the patients, all coding exons of the KAL1 gene were sequenced. Deletion of exons 4, 5 and 6 were evident in 5%, 10%, and 10% of patients, respectively. Furthermore, HRM results showed hemizygous mutation of exon 12 with more than 95% probability in 25% of patients. Finding these mutations could be helpful in the early diagnosis and presymptomic treatment of Kallman syndrome.
