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Thyroid disease is part of the 22q11 deletion Syndrome
- Joanna M Preece, Robert Smith, Consultant Paediatrician (11 June 2003)
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Joanna M Preece, Specialist Registrar in Paediatrics St James's University Hospital, Leeds, Robert Smith, Consultant Paediatrician
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jmpreece{at}doctors.org.uk Joanna M Preece, et al.
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Dear Editor We read with interest Greeenhalgh's report [1] of recommended investigation and management of children with chromosome 22q11 microdeletion. In this report no mention is made of thyroid disease. We would like to suggest that diseases of the thyroid can be a significant cause of morbidity in these children and that screening for thyroid disease should be considered part of their management. Scuccimarri and Rodd [2] have highlighted the importance of thyroid dysfunction associated with 22q11.2 deletion syndrome including congenital hypothyroidism, dysgenesis of the thyroid gland and childhood onset hypothyroidism. In 1997 Ryan et al [3] presented data on 558 patients from European centres with 22q11.2 deletion in which 4 patients were found to have hypothyroidism. Hyperthyroidism in the form of Grave's disease is being increasingly reported and in 2001 Kawame et al. [4] reported a series of such patients. We also reported a case of primary hypothyroidism presenting as hypothyroid myopathy in a 2 year 7 month old boy with 22q11 deletion.[5] Most recently Weinzimer [6] reviewed hormonal disorders in patients with 22q11 deletion. He discussed reports with incidences of hypothyroidism of 0.7% to 7% occurring in patients with 22q11 deletion, mentions the well documented autopsy findings of congenital anomalies of the thyroid gland and the emerging reports of other autoimmune conditions associated with the 22q11deletion. As signs of thyroid disease may be difficult to interpret in children with the chromosome 22q11.2 deletion, thyroid function testing should be considered part of the medical management. References (1) K L Greenhalgh, I A Aligianis, G Bromilow, H Cox, C Hill, Y Stait, B J Leech, P W Lunt, and M Ellis. 22q11 deletion: a multisystem disorder requiring multidisciplinary input. Arch Dis Child 2003;88:523-524 . (2) Scuccimarri R, Rodd C. Thyroid abnormalities as a feature of DiGeorge Syndrome: a patient report and review of the literature. J Pediatr Endocr Metab 1998;11:273-276. (3) Ryan AK, Goodship JA, Wilson, DI, Philip N, Levy A, Scidel H et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997;34(10):798-804. (4) Kawame H, Adachi M, Tachibana K, Kurosawa K, Ito F, Gleason M. Graves' Disease in patients with 22q11.2 deletion. J Pediatr 2001;139:892-5. (5) Preece J, Smith R. Thyroid disease in children with 22q11.2 deletion syndrome. J Pediatr 2002;141(2):297. (6) Weinzimer S. Endocrine aspects of the 22q11.2 deletion syndrome. Genet Med 2001;3(1):19-22. |
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