Intragenic Deletion of theKALIG-1Gene in Kallmann's Syndrome

Abstract

KALLMANN'S SYNDROME is an inherited disorder characterized by hypogonadism and anosmia.¹ The hypogonadism is due to deficiency of gonadotropin-releasing hormone (GnRH),² and the anosmia is due to hypoplasia or aplasia of the olfactory bulbs and tracts.^{3 , 4} In addition to hypogonadotropic hypogonadism and anosmia, other abnormalities may be present in patients with Kallmann's syndrome. They include neurologic deficits such as synkinesia,^{1 , 5} spatial attentional abnormalities,⁶ spastic paraplegia,⁷ cerebellar dysfunction, gaze-evoked horizontal nystagmus, pes cavus,^{5 , 8} mental retardation,⁹ color-vision disturbance and hearing loss,¹⁰ and other somatic defects, such as unilateral renal agenesis,⁹ horseshoe kidney,¹¹ cryptorchidism,¹² and cleft lip and palate.¹⁰ Several of these abnormalities were found to segregate as mendelian traits in association with Kallmann's syndrome, suggesting that they do not represent a chance association but may be components of the disorder.^{5 , 9 , 13}