Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome

Journal of Pediatrics

Volumn 158, Issue 3, 2011, Pages 474-479

  Bergman, Jorieke E H ^a   Bocca, Gianni ^b   Hoefsloot, Lies H ^c   Meiners, Linda C ^a   Van Ravenswaaij Arts, Conny M A ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b UNIVERSITY OF GRONINGEN   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMODOMAIN HELICASE DNA BINDING PROTEIN 7; DNA BINDING PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ANOSMIA; ARTICLE; CHOANA ATRESIA; CLINICAL ARTICLE; COHORT ANALYSIS; CONGENITAL HEART MALFORMATION; CRYPTORCHISM; EAR MALFORMATION; FEMALE; GENE; GENE MUTATION; GENETIC ASSOCIATION; GROWTH RETARDATION; HEARING LOSS; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; HYPOPLASIA; IRIS COLOBOMA; MALE; MICROPENIS; PREDICTOR VARIABLE; PRIORITY JOURNAL; PUBERTY; SMELLING; SYNDROME CHARGE;

ADOLESCENT; ADULT; CHARGE SYNDROME; CHILD; FEMALE; HORMONE REPLACEMENT THERAPY; HUMANS; HYPOGONADISM; MAGNETIC RESONANCE IMAGING; MALE; NETHERLANDS; OLFACTION DISORDERS; OLFACTORY BULB; PREDICTIVE VALUE OF TESTS; PUBERTY, DELAYED;

EID: 79951578413     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2010.08.032     Document Type: Article

References (30)

1. K.D. Blake, S.L. Davenport, B.D. Hall, M.A. Hefner, R.A. Pagon, and M.S. Williams CHARGE association: an update and review for the primary pediatrician Clin Pediatr (Phila) 37 1998 159 173
2. D. Sanlaville, and A. Verloes CHARGE syndrome: an update Eur J Hum Genet 15 2007 389 399 (Pubitemid 46487692)
3. R.A. Pagon, J.M. Graham Jr., J. Zonana, and S.L. Yong Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association J Pediatr 99 1981 223 227 (Pubitemid 11046488)
4. D. Sanlaville, H.C. Etchevers, M. Gonzales, J. Martinovic, M. Clement-Ziza, and A.L. Delezoide Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development J Med Genet 43 2006 211 217
5. A. Verloes Updated diagnostic criteria for CHARGE syndrome: a proposal Am J Med Genet A 133 2005 306 308 (Pubitemid 40293397)
6. L.E. Vissers, C.M. van Ravenswaaij, R. Admiraal, J.A. Hurst, B.B. De Vries, and I.M. Janssen Mutations in a new member of the chromodomain gene family cause CHARGE syndrome Nat Genet 36 2004 955 957 (Pubitemid 39167490)
7. M.C. Jongmans, L.H. Hoefsloot, K.P. van der Donk, R.J. Admiraal, A. Magee, and I. van de Laar Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability Am J Med Genet A 146 2008 43 50
8. Y. Asakura, Y. Toyota, K. Muroya, K. Kurosawa, K. Fujita, and N. Aida Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome J Clin Endocrinol Metab 93 2008 920 924 (Pubitemid 351398574)
9. C. Chalouhi, P. Faulcon, C. Le Bihan, L. Hertz-Pannier, P. Bonfils, and V. Abadie Olfactory evaluation in children: application to the CHARGE syndrome Pediatrics 116 2005 e81 e88
10. G. Pinto, V. Abadie, R. Mesnage, J. Blustajn, S. Cabrol, and J. Amiel CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development J Clin Endocrinol Metab 90 2005 5621 5626 (Pubitemid 41415467)
11. W.S. Layman, D.P. McEwen, L.A. Beyer, S.R. Lalani, S.D. Fernbach, and E. Oh Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome Hum Mol Genet 18 2009 1909 1923
12. K.D. Blake, N. Salem-Hartshorne, M.A. Daoud, and J. Gradstein Adolescent and adult issues in CHARGE syndrome Clin Pediatr (Phila) 44 2005 151 159 (Pubitemid 40344405)
13. K.E. Forward, E.A. Cummings, and K.D. Blake Risk factors for poor bone health in adolescents and adults with CHARGE syndrome Am J Med Genet A 143 2007 839 845 (Pubitemid 46556170)
14. P.G. Wheeler, C.A. Quigley, A. Sadeghi-Nejad, and D.D. Weaver Hypogonadism and CHARGE association Am J Med Genet 94 2000 228 231
15. M.C. Jongmans, R.J. Admiraal, K.P. van der Donk, L.E. Vissers, A.F. Baas, and L. Kapusta CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene J Med Genet 43 2006 306 314
16. A. Cariboni, and R. Maggi Kallmanns syndrome, a neuronal migration defect Cell Mol Life Sci 63 2006 2512 2526 (Pubitemid 44724891)
17. J.E. Bergman, E.A. Bosman, C.M. Ravenswaaij-Arts, and K.P. Steel Study of smell and reproductive organs in a mouse model for CHARGE syndrome Eur J Hum Genet 1 2010 171 177
18. G.G. Massa, V. Langenhorst, W. Oostdijk, and J.M. Wit [Micropenis in children: etiology, diagnosis and therapy] Ned Tijdschr Geneeskd 141 1997 511 515 (Pubitemid 27148205)
19. J.E. Bergman, I. de Wijs, M.C. Jongmans, R.J. Admiraal, L.H. Hoefsloot, and C.M. Ravenswaaij-Arts Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome Eur J Med Genet 51 2008 417 425
20. R.L. Doty, P. Shaman, and M. Dann Development of the University of Pennsylvania Smell Identification Test: a standardized microencapsulated test of olfactory function Physiol Behav 32 1984 489 502 (Pubitemid 14148126)
21. T. Ogata, I. Fujiwara, E. Ogawa, N. Sato, T. Udaka, and K. Kosaki Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation Endocr J 53 2006 741 743 (Pubitemid 46045118)
22. M.P. Schnetz, C.F. Bartels, K. Shastri, D. Balasubramanian, G.E. Zentner, and R. Balaji Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns Genome Res 19 2009 590 601
23. M.C. Jongmans, C.M. Ravenswaaij-Arts, N. Pitteloud, T. Ogata, N. Sato, and H.L. Claahsen-van der Grinten CHD7 mutations in patients initially diagnosed with Kallmann syndrome -the clinical overlap with CHARGE syndrome Clin Genet 75 2009 65 71
24. H.G. Kim, I. Kurth, F. Lan, I. Meliciani, W. Wenzel, and S.H. Eom Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome Am J Hum Genet 83 2008 511 519
25. A. Delahaye, Y. Sznajer, S. Lyonnet, M. Elmaleh-Berges, I. Delpierre, and S. Audollent Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability Clin Genet 72 2007 112 121 (Pubitemid 47262081)
26. D.M. Yousem, R.J. Geckle, W. Bilker, D.A. McKeown, and R.L. Doty MR evaluation of patients with congenital hyposmia or anosmia Am J Roentgenol 166 1996 439 443 (Pubitemid 26036313)
27. Grumbach, and D.M. Styne Puberty: ontogeny, neuroendocrinology, physiology, and disorders P.R. Larsen, H.M. Kronenberg, S. Melmed, K.S. Polonsky, Williams textbook of endocrinology 2003 WB Saunders Philadelphia 1115 1286
28. A.M. Traish, F. Saad, R.J. Feeley, and A. Guay The dark side of testosterone deficiency: III. Cardiovascular disease J Androl 30 2009 477 494
29. J.L. Ross, E. McCauley, D. Roeltgen, L. Long, H. Kushner, and P. Feuillan Self-concept and behavior in adolescent girls with Turner syndrome: potential estrogen effects J Clin Endocrinol Metab 81 1996 926 931 (Pubitemid 26083948)
30. A. Albanese, and R. Stanhope Investigation of delayed puberty Clin Endocrinol (Oxf) 43 1995 105 110