The Journal of Pediatrics
Volume 150, Issue 1 , Pages 62-65 , January 2007

Thyroid Morphology and Subclinical Hypothyroidism in Children and Adolescents with Williams Syndrome

Received 25 March 2006 ,Revised 24 July 2006 ,Accepted 11 October 2006.

References 

  1. Burn J. Williams syndrome. J Med Genet. 1986;23:389–395
  2. Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL. Natural history of Williams syndrome: physical characteristics. J Pediatr. 1988;113:318–326
  3. Nickerson E, Greenberg F, Keating MT, McCaskill C, Shaffer LG. Deletion of elastin gene at 7q11.23 occur in 90% of patients with Williams syndrome. Am J Hum Genet. 1995;56:1156–1161
  4. Lowery MC, Morris CA, Ewart A, Brothman LJ, Zhu XL, Leonard CO, et al. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. Am J Hum Genet. 1995;57:49–53
  5. Cappa M, Galasso C, Boscherini B. Aspetti auxologici ed endocrinologici. In:  Giannotti A,  Vicari S editor. Il bambino con sindrome di Williams. Milano: Franco Angeli; 1994;p. 59–64
  6. Cammareri V, Vignati G, Nocera G, Beck-Peccoz P, Persani L. Thyroid hemiagenesis and elevated thyrotropin levels in child with Williams syndrome. Am J Med Genet. 1999;85:491–494
  7. Stagi S, Bindi G, Neri AS, Giovannucci-Uzielli ML, Lapi E, Galluzzi F, et al. Thyroid hypoplasia of the left lobe in two girls affected by Williams syndrome. Clin Dysmorphol. 2003;12:267–268
  8. Stagi S, Bindi G, Neri AS, Lapi E, Losi S, Jenuso R, et al. Thyroid function and morphology in patients affected by Williams syndrome. Clin Endocrinol. 2005;63:456–460
  9. Bini R, Pela I. New case of thyroid dysgenesis and clinical signs of hypothyroidism in Williams syndrome. Am J Med Genet. 2004;1:183–185
  10. American Academy of Pediatrics. Committee on Genetics. Health care supervision for children with Williams syndrome. Pediatrics. 2001;107:1192–1203
  11. Ueda D, Mitamura R, Suzuki N, Yano K, Okuno A. Sonographic imaging of the thyroid gland in congenital hypothyroidism. Pediatr Radiol. 1992;22:102–105
  12. Cooper DS. Subclinical hypothyroidism. N Engl J Med. 2001;345:260–265
  13. Cherniske EM, Carpenter TO, Klaiman C, Young E, Bregman J, Insogna K, et al. Multisystem study of 20 older adults with Williams syndrome. Am J Med Genet. 2004;131:255–264
  14. Gyves PW, Gesundheit N, Taylor T, Butler JB, Weintraub BD. Changes in thyrotropin (TSH) carbohydrate structure and response to TSH-releasing hormone during postnatal ontogeny: analysis by concanavalina-A chromatography. Endocrinology. 1987;121:133–140
  15. Cutler AT, Benezra-Obeiter R, Brink SJ. Thyroid function in young children with Down syndrome. Am J Dis Child. 1986;140:479–483
  16. Sharav T, Collins RM, Baab PJ. Growth studies in infants and children with Down syndrome and elevated levels of thyrotropin. Am J Dis Child. 1988;142:1302–1306
  17. Sharav T, Landau H, Zadik Z, Einarson TR. Age-related patterns of thyroid-stimulating hormone response to thyrotropin-releasing hormone in Down syndrome. Am J Dis Child. 1991;145:172–175
  18. Castanet M, Leenhardt L, Léger J, Simon-Carré A, Lyonnet S, Pelet A, et al. Thyroid hemiagenesis is a rare variant of thyroid dysgenesis with a familial component but without Pax8 mutations in a cohort of 22 cases. Pediatr Res. 2005;57:908–913
  19. Maiorana R, Carta A, Floriddia G, Leonardi D, Buscema M, Sava L, et al. Thyroid hemiagenesis: prevalence in normal children and effect on thyroid function. J Clin Endocrinol Metab. 2003;88:1534–1536
  20. De Felice M, Di Lauro R. Thyroid development and its disorders: genetics and molecular mechanism. Endocrine Reviews. 2004;25:722–746
  21. Olivieri A, Stazi MA, Mastroiacovo P, Fazzini C, Medda E, Spagnolo A, et al. A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from the Italian Registry for Congenital Hypothyroidism. J Clin Endocrinol Metab. 2002;87:557–562
  22. Lazzaro D, Price M, De Felice M, Di Lauro R. The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of foetal brain. Development. 1991;113:1093–1104
  23. Plachov D, Chowdhury K, Walther C, Simon D, Guenet JL, Gruss P. PAX8, a murine paired box gene expressed in the developing excretory system and thyroid gland. Development. 1990;110:643–651
  24. Zannini M, Avantaggiato V, Biffali E, Arnone M, Sato K, Pischetola M, et al. TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation. EMBO J. 1997;16:3185–3197
  25. Thomas PQ, Brown A, Beddington R. Hex: a homeobox gene revealing peri-implantation asymmetry in the mouse embryo and an early transient marker of endothelial cell precursors. Development. 1998;125:85–95
  26. Fagman H, Grande M, Gritli-Linde A, Nilsson M. Genetic deletion of sonic hedgehog cause hemiagenesis and ectopic development of the thyroid in mouse. Am J Pathol. 2004;164:1865–1872
  27. Wang YK, Samos CH, Peoples R, Perez-Jurado LA, Nusse R, Francke U. A novel human homologue of Drosophila frizzled wnt receptor gene binds protein and is in the Williams syndrome deletion at 7q11.23. Hum Mol Genet. 1997;6:465–472
  28. Meng X, Lu X, Li Z, Green ED, Massa H, Trask BJ, et al. Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. Hum Genet. 1998;103:590–599
  29. Wouters CH, Meijers-Heijboer HJ, van der Heide AA, van Luijk RB, van Drunen E, Beverloo BB, et al. Deletion at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome. Am J Med Genet. 2001;102:261–265
  30. Hinsley TA, Cunliffe P, Tipney HJ, Brass A, Tassabehji M. Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome. Prot Sci. 2004;13:2588–2599
  31. Ku M, Sokol SY, Wu J, Tassie-Luna MI, Roy AL, Hata A. Positive and negative regulation of the transforming growth factor β/activin target gene goosecoid by the TFII-I family of transcription factors. Mol Cell Biol. 2005;25:7144–7157

PII: S0022-3476(06)01017-1

doi: 10.1016/j.jpeds.2006.10.060

The Journal of Pediatrics
Volume 150, Issue 1 , Pages 62-65 , January 2007

Article Tools