INTRAGENIC DELETION OF THE KALIG-1 GENE IN KALLMANNS SYNDROME

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.