The neuroradiology of Kallmann's syndrome: A genotypic and phenotypic analysis

Journal of Clinical Endocrinology and Metabolism

Volumn 81, Issue 8, 1996, Pages 3010-3017

  Quinton, Richard ^a   Duke, Veronique M ^a   De Zoysa, Priyal A ^a   Platts, Andrew D ^b   Valentine, Alan ^b   Kendall, Brian ^b   Pickman, Susan ^b   Kirk, Jeremy M W ^d   Besser, G Michael ^c   Jacobs, Howard S ^a   Bouloux, Pierre M G ^a,b  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b ROYAL FREE HOSPITAL   (United Kingdom)

^c QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^d BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GONADORELIN;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL PROTOCOL; CONTROLLED STUDY; CORPUS CALLOSUM; DIAGNOSTIC VALUE; FEMALE; GENE LOCUS; GENOTYPE; HETEROZYGOTE; HORMONE DEFICIENCY; HUMAN; KALLMANN SYNDROME; MALE; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

EID: 10144243975     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.81.8.3010     Document Type: Article

References (58)

1. Franco B, Guioli S, Pragliola A, et al. 1991 A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path finding molecules. Nature. 353:529-535.
2. Legouis R, Hardelin J-P, Levilliers J, et al. 1991 The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell. 67:423-435.
3. Santen RJ, Paulsen CA. 1973 Hypogonadotropic eunuchoidism. I. Clinical study of the mode of inheritance. J Clin Endocrinol Metab. 36:47-54.
4. White BJ, Rogol AD, Brown KS, Lieblich JM, Rosen SW. 1983 The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and a review. Am J Med Genet. 15:417-435.
5. Hermanussen M, Sippell WG. 1985 Heterogeneity of Kallmann's syndrome. Clin Genet. 28:106-111.
6. Bouloux P-MG, Duke VM, Quinton R. 1994 Congenital pituitary endocrine failure. In: Shaw RW, ed. Hypothalamic pituitary dysfunction. New York: Parthenon; 17-33.
7. Kirk JMW, Grant DB, Besser GM, et al. 1994 Unilateral renal aplasia in X-linked Kallmann's syndrome. Clin Genet. 46:260-262.
8. Kallmann FJ, Schoenfeld WA, Barrera SE. 1944 The genetic aspects of primary eunuchoidism. Am J Mental Def. 48:203-236.
9. Conrad B, Kriebel J, Hetzel WD. 1978 Hereditary bimanual synkinesis combined with hypogonadotropic hypogonadism and anosmia in four brothers. J Neurol. 218:263-274.
10. Schwankhaus JD, Currie J, Jaffe MJ, Rose SR, Sherins RJ. 1989 Neurologic findings in men with isolated hypogonadotropic hypogonadism. Neurology. 39:223-226.
11. Danek A, Heye B, Schroedter R. 1992 Cortically evoked motor responses in patients with Xp22.3-linked Kallmann's syndrome and in female gene carriers. Ann Neurol. 31:299-304.
12. Ghai K, Cara JF, Rosenfield RL. 1995 Gonadotropin-releasing hormone agonist [nafarelin] test to differentiate gonadotropin deficiency from constitutionally delayed puberty in teen-age boys-a clinical research centre study. J Clin Endocrinol Metab. 80:2980-2986.
13. Wu FCW, Butler GE, Kelnar CJH, Stirling HF, Huhtaniemi I. 1991 Patterns of pulsatile luteinizing hormone and follicle-stimulating hormone secretion in prepubertal (midchildhood) boys and girls and patients with idiopathic hypogonadotropic hypogonadism (Kallmann's syndrome): a study using an ultrasensitive time-resolved immunofluorometric assay. J Clin Endocrinol Metab. 72:1229-1237.
14. Klingmüller D, Dewes W, Krahe T, Brecht G, Schweikert HU. 1987 Magnetic resonance imaging of the brain in patients with anosmia and hypothalamic hypogonadism (Kallmann's syndrome). J Clin Endocrinol Metab. 65:581-584.
15. Takeda T, Takasu N, Yamauchi K, et al. 1992 Magnetic resonance imaging of the hypoplasia of the rhinencephalon in a patient with Kallmann's syndrome. Intern Med. 31:394-396.
16. Bajaj S, Ammini AC, Marwaha R, Gulati P, Khetarpal K, Mahajan H. 1993 Magnetic resonance imaging of the brain in idiopathic hypogonadotropic hypogonadism. Clin Radiol. 48:122-124.
17. Birnbacher R, Wandl-Vergesslich K, Frisch H. 1994 Diagnosis of X-recessive Kallmann syndrome in early infancy. Evidence of hypoplastic rhinencephalon. Eur J Pediatr. 153:245-247.
18. Truwit CL, Barkovich AJ, Grumbach MM, Martini JJ. 1993 MR imaging of Kallmann syndrome, a genetic disorder of neuronal migration affecting the olfactory and genital systems. Am J Neuroradiol. 14:827-838.
19. Knorr JR, Ragland RL, Brown RS, Gelber N. 1993 Kallmann syndrome: MR findings. Am J Neuroradiol. 14:845-851.
20. Yousem DM, Turner WJ, Li C, Snyder PJ, Doty RL. 1993 Kallmann syndrome: MR evaluation of olfactory system. Am J Neuroradiol. 14:839-843.
21. Vogl TJ, Stemmler J, Heye B, Schopohl J, Danek A, Bergman C, et al. 1994 Kallmann syndrome versus idiopathic hypogonadotropic hypogonadism at MR imaging. Radiology. 191:53-57.
22. Bouloux P-MG, Duke VM, Hall-Craggs M, Manning P, Quinton R, Jacobs HS. 1994 Kallmann's syndrome. Curr Opin Obstet Gynecol. 6:301-303.
23. Nass R. 1985 Mirror movement asymmetries in congenital hemiparesis: the inhibition hypothesis revisited. Neurology. 35:1059-1062.
24. Freiman IS, Micheels L, Kahn RL. 1947 An hereditary syndrome characterised by mirror movements, left handedness and organic mental defect. Trans Am Neurol Assoc. 74:224-226.
25. Ettlinger G, Blakemore CB, Milner AD, Wilson J. 1972 Agenesis of the corpus callosum: a behavioual investigation. Brain. 95:327-346.
26. Schott GD, Wyke MA. 1981 Congenital mirror movements. J Neurol Neurosurg Psychiatry. 44:586-599.
27. Rothwell JC, Colebatch JG, Britton TC, et al. 1991 Physiological studies in a patient with mirror movements and agenesis of the corpus callosum. J Physiol (Lond), 438:34P.
28. De Morsier G. 1954 Etudes sur les dysraphies cranio-encephaliques. I. Agenesie des lobes olfactifs (telencephaloschizis lateral) et des commisures calleuse et anterieure (telencephaloschizis median). La dysplasie olfacto-genitale. Schweiz Arch Neurol Psychiatry. 74:309-361.
29. De Morsier G, Gauthier G. 1965 La dysplasie olfacto-genitale: neuropathologie, endocrinologie, génétique. In: de Freitas S, Burger P, Muller P, eds. Hypoplasie et malformations de l'appareil génital interne de la femme. Paris: Masson; 139-171.
30. Parr JH. 1988 Midline cerebral defects and Kallmann's syndrome. Proc R Soc Med. 81:355-356.
31. Aubert L, Aubert LP, Conte-Devolx B. 1989 Dysplasie calloso-génitale. Presse Med. 18:25-27.
32. Schryock H, Knighton RS. 1940 Arhinencephaly with associated agenesis of the corpus callosum. Bull LA Neurol Soc 000:192-201.
33. Naruse I, Fukui Y, Keino H, Taniguchi M. 1994 The arrest of luteinizing hormone-releasing hormone neuronal migration in the genetic arhinencephalic mouse embryo (Pdn/Pdn). Dev Brain Res. 81:178-184.
34. Jones JR, Kemmann E. 1976 Olfacto-genital dysplasia in the female. Obstet Gynecol Annu. 5:443-466.
35. Doty RL, Shaman P, Dann M. 1984 The development of the University of Pennsylvania smell identification test. Physiol Behav. 32:501-507.
36. Hardelin J-P, Levilliers J, del Castillo I, et al. 1992 X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene. Proc Natl Acad Sci USA. 89:8190-8194.
37. Hardelin J-P, Levilliers J, Young J, et al. 1993 Xp22.3 deletions in isolated familial Kallmann's syndrome. J Clin Endocrinol Metab. 76:827-831.
38. Hardelin J-P, Levilliers J, Blanchard S, et al. 1993 Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. Hum Mol Genet. 2:373-377.
39. Bouloux P-MG, Kirk JMW, Munroe P, et al. 1993 Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus. Clin Genet. 43:169-173.
40. Kunkel LM, Smith KD, Boyar SH, et al. 1977 Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA. 74:1245-1249.
41. Bauman A. 1986 Markedly delayed puberty or Kallmann's syndrome variant. J Androl. 7:224-227.
42. Cohen-Salmon M, Tronche F, del Castillo I, Petit C. 1995 Characterization of the promotor of the human KAL gene, responsible for the X-chromosomelinked Kallmann syndrome. Gene. 164:235-242.
43. Cordonnier M, Hanozet V, Van Nechel C, Fery F, Aberkane J. 1990 Syndrome de Duane bilatéral associé a un hypogonadisme hypogonadotrophique et une anosmie (syndrome de Kallmann). Bull Soc Belg Ophtalmol. 239:29-35.
44. Schwanzel-Fukuda M, Pfaff DW. 1989 Origin of luteinizing hormone releasing hormone neurons. Nature. 338:161-164.
45. Stopa EG, Koh ET, Svendsen CN, Rogers WT, Schwaber JS, King JC. 1991 Computer-assisted mapping of immunoreactive mammalian gonadotropinreleasing hormone in adult human basal forebrain and amygdala. Endocrinology. 128:3199-3207.
46. Schwanzel-Fukuda M, Bick D, Pfaff DW. 1989 Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome. Mol Brain Res. 6:311-326.
47. Rugarli EI, Lutz B, Kuratani SC, Wawersik S, Borsani G, Ballabio A. 1993 Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting. Nature Genet. 4:19-26.
48. Kirk JMW, Bouloux P-MG, Grant DB, Savage MO, Besser GM. 1994 Identification of olfactory dysfunction in carriers of X-linked Kallmann's syndrome. Clin Endocrinol (Oxf). 41:577-580.
49. Marshall JR, Henkin RI. 1971 Olfactory acuity, menstrual abnormalities, and oocyte status. Ann Intern Med. 75:207-211.
50. Hudson R, Laska M, Berger T, Heye B, Schopohl J, Danek A. 1994 Olfactoryfunction in patients with hypogonadotropic hypogonadism: an all-or-none phenomenon? Chem Sens. 19:57-69.
51. Weidenreich F. 1914 Uber partiellen Riechlappendefekt und Eunuchoidismus beim Menschen. Z Morphol Anthropol. 18:157-190.
52. Mirsalis T. 1929 Ein neuer Fall von Arhinenzephalie. Anat Anz. 67:353-360.
53. Oldberg S. 1932 Ein Beitrag zur Frage der Arhinencephalie. Upsala Lakarenforen Forhandl. 38:1-14.
54. Kanai T. 1940 Uber das kombinierte Vorkommen des partiellen Riechlappendefektes mit dem Eunuchoidismus. Okajima Folia Anat Jpn. 19:199-213.
55. Lang J. 1981 Topographical anatomy of the cranial nerves. In: Samii M, ed. The cranial nerves. Berlin: Springer-Verlag; 6-15.
56. Gunderson CH, Solitare GB. 1968 Mirror movements in patients with the Klippel-Feil syndrome. Neuropathologic observations. Arch Neurol. 18:675-679.
57. Farmer SF, Ingram DA, Stephens JA. 1990 Mirror movements studied in a patient with Klippel-Feil syndrome. J Physiol (Lond). 428:467-484.
58. Lieblich JM, Rogol AD, White BJ, Rosen SW. 1982 Syndrome of anosmia with hypogonadotropic hypogonadism (Kallmann syndrome): clinical and laboratory studies in 23 cases [Review]. Am J Med. 73:506-519.