Intragenic Deletion of the KALIG-1 Gene 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… © 1992, Massachusetts Medical Society. All rights reserved.