Home Towards an optimization of the management of endocrine complications of thalassemia
Article
Licensed
Unlicensed Requires Authentication

Towards an optimization of the management of endocrine complications of thalassemia

  • Mohamed El Kholy , Heba Elsedfy EMAIL logo , Ashraf Soliman , Salvatore Anastasi , Giuseppe Raiola and Vincenzo De Sanctis
Published/Copyright: May 23, 2014

Abstract

Children with thalassemia are living longer due to better care. Physicians dealing with this group of patients now have to contend with new challenges resulting from iron overload. Endocrine complications represent the most common morbidities encountered. To provide a better quality of life, these complications have to be addressed in a consistent way. For this purpose, we have compiled a set of recommendations to help physicians provide the best care possible to these patients.


Corresponding author: Heba Elsedfy, MD, Paediatrics Department, Ain Shams University, Cairo, Egypt, Phone: +20 2 22584743, Mobile Phone: +20 2 0105189166, E-mail:

References

1. De Sanctis V, Eleftheriou A, Malaventura C. Thalassaemia International Federation Study Group on Growth and Endocrine Complications in Thalassaemia. Prevalence of endocrine complications and short stature in patients with thalassaemia major: a multicenter study by the Thalassaemia International Federation (TIF). Pediatr Endocrinol Rev 2004;2:249–55.Search in Google Scholar

2. Hershko C, Link G, Cabantchik I. Pathophysiology of iron overload. Ann N Y Acad Sci 1998;30:191–201.10.1111/j.1749-6632.1998.tb10475.xSearch in Google Scholar PubMed

3. Andrews NC, Schmidt PJ. Iron homeostasis. Ann Rev Physiol 2007;69:69–85.10.1146/annurev.physiol.69.031905.164337Search in Google Scholar PubMed

4. Magro S, Puzzonia P, Consarino C, Galati MC, Morgione S, et al. Hypothyroidism in patients with thalassaemia syndromes. Acta Haematol 1990;84:72–6.10.1159/000205032Search in Google Scholar PubMed

5. De Sanctis V, Elawwa A, Angastiniotis M, Eleftheriou A, Kattamis C, et al. Highlights from the First Thalassaemia Forum on Growth and Endocrine Complications in Thalassemia Doha (October 2–3, 2011). Pediatr Endocrinol Rev 2012;9:672–9.Search in Google Scholar

6. De Sanctis V. Growth and puberty and its management in thalassaemia. Horm Res 2002;58:72–9.10.1159/000064766Search in Google Scholar PubMed

7. Wonke B, De Sanctis V. Clinical aspects of transfusional iron overload. Clin Exp Hematol 2001;12:322–34.Search in Google Scholar

8. Soliman AT, Khalafallah H, Ashour R. Growth and factors affecting it in thalassemia major. Hemoglobin 2009;33:S116–26.10.3109/03630260903347781Search in Google Scholar PubMed

9. De Sanctis V, Vullo C, Bagni B, Chiccoli L. Hypoparathyroidism in beta-thalassemia major. Clinical and laboratory observations in 24 patients. Acta Haematol 1992;88:105–8.Search in Google Scholar

10. De Sanctis V, Borsari G, Brachi S, Gubellini E, Gamberini MR, et al. A rare cause of heart failure in iron-overload thalassaemic patients-primary hypoparathyroidism. Georgian Med News 2008;156:111–3.Search in Google Scholar

11. De Sanctis V, Savarino L, Stea S, Cervellati M, Ciapetti G, et al. Microstructural analysis of severe bone lesions in seven thalassaemic patients treated with desferrioxamine. Calcif Tissue Ital 2000;67:128–33.10.1007/s00223001122Search in Google Scholar PubMed

12. Skordis N. Endocrine investigation and follow up in thalassaemia. Time for specific guidelines. Thalassemia Rep 2011;1:e22.10.4081/thal.2011.s2.e22Search in Google Scholar

13. De Sanctis V, Wonke B. Growth and endocrine complications in thalassaemia. Rome: Mediprint, 1998.Search in Google Scholar

14. Karimi M, Rasekhi AR, Rasekh M, Nabavizadeh SA, Assadsangabi R, et al. Hypoparathyroidism and intracerebral calcification in patients with beta-thalassemia major. Eur J Radiol 2009;70:481–4.10.1016/j.ejrad.2008.02.003Search in Google Scholar PubMed

15. Skordis N, Loannou YS, Kyriakou A, Savva SC, Efstathiou E et al. Effect of bisphosphonate treatment on bone mineral density in patients with thalassaemia major. Pediatr Endocrinol Rev 2008;6:144–8.Search in Google Scholar

16. Smaldone A. Glycemic control and hemoglobinopathy: when A1C may not be reliable. Diabetes Spect 2008;21:46–9.10.2337/diaspect.21.1.46Search in Google Scholar

17. Incorvaia C, Parmeggiani F, Mingrone G, Sebastiani A, De Sanctis V. Prevalence of retinopathy in diabetic thalassaemic patients. J Pediatr Endocrinol Metab 1998;11:879–83.Search in Google Scholar

18. Poomthavorn P, Isaradisaikul B, Chuansumrit A, Khlairit P, Sriphrapradang A, et al. High prevalence of “biochemical” adrenal insufficiency in thalassemics: Is it a matter of different testings or decreased cortisol binding globulin? J Clin Endocrinol Metab 2010;95:4609–15.10.1210/jc.2010-0205Search in Google Scholar PubMed

19. Elsedfy HH, El Kholy M, Tarif R, Hamed A, Elalfy M. Adrenal function in thalassemia major adolescents. Pediatr Endocrinol Rev 2011;8:295–9.Search in Google Scholar

20. Toumba M, Kanaris C, Simamonian K, Skordis N. Outcome and management of pregnancy in women with thalassaemia in Cyprus. East Med Health J 2008;14:628–35.Search in Google Scholar

21. Skordis N, Christou S, Koliou M, Pavlides N, Angastiniotis M. Fertility in female patients with thalassaemia. J Ped Endocrinol Metab 1998;11:935–43.Search in Google Scholar

22. Skordis N, Petrikkos L, Toumba M, Hadjigavriel M, Sitarou M, et al. Update on fertility in thalassaemia major. Pediatr Endocrinol Rev 2004;2:296–302.Search in Google Scholar

23. De Sanctis V, Vullo C, Katz M, Wonke B, Nannetti C, et al. Induction of spermatogenesis in thalassaemia. Fertil Steril 1998;50:969–75.10.1016/S0015-0282(16)60382-5Search in Google Scholar

24. Soliman AT, Nasr I, Thabet A, Rizk MM, El Matary W. Human chorionic gonadotropin therapy in adolescent boys with constitutional delayed puberty vs. those with beta-thalassemia major. Metabolism 2005;54:15–23.10.1016/j.metabol.2004.07.006Search in Google Scholar PubMed

25. De Sanctis V, Soliman AT, Angastiniotis M, Eleftheriou A, Kattamis Ch, et al. International network on endocrine complications in thalassaemia (I-CET): an opportunity to grow. Georgian Med News 2012;205:52–7.Search in Google Scholar

26. Standards for the clinical care of children and adult with thalassaemia in UK, 2nd ed. UK: United Kingdom Thalassaemia Society, 2008. Available at: http://www.ukts.org (accessed 1 May 2014).Search in Google Scholar

27. Guidelines for the clinical management of thalassaemia, 2nd ed. Cyprus: Thalassaemia International Federation, 2008. Available at: http://www.thalassaemia.org.cy (accessed 1 May 2014).Search in Google Scholar

28. Standards of care guidelines for thalassaemia. Oakland, CA: Children’s Hospital & Research Center Oakland, 2009. Available at: http://www.thalassemia.org (accessed 1 May 2014).Search in Google Scholar

29. Guidelines for the clinical care of patients with thalassemia in Canada. Canada: Thalassemia Foundation of Canada, 2009. Available at: http://www.thalassemia.ca (accessed 1 May 2014).Search in Google Scholar

Received: 2014-4-13
Accepted: 2014-4-23
Published Online: 2014-5-23
Published in Print: 2014-9-20

©2014 by De Gruyter

Articles in the same Issue

  1. Frontmatter
  2. Review article
  3. Towards an optimization of the management of endocrine complications of thalassemia
  4. Original articles
  5. The natural course of Hashimoto’s thyroiditis in children and adolescents
  6. Muscle strength and body composition during the transition phase in patients treated with recombinant GH to final height
  7. Benign vaginal bleeding in 24 prepubertal patients: clinical, biochemical and imaging features
  8. Evaluation of epicardial adipose tissue, carotid intima-media thickness and ventricular functions in obese children and adolescents
  9. Counseling patients with succinate dehydrogenase subunit defects: genetics, preventive guidelines, and dealing with uncertainty
  10. Pubertal development profile in patients with Turner syndrome
  11. A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder
  12. Serum insulin-like growth factor-binding protein-3 level correlated with glycemic control and lipid profiles in children and adolescents with type 1 diabetes
  13. Adult human liver mesenchymal progenitor cells express phenylalanine hydroxylase
  14. Clinical applicability of rapid detection of SRY and DYS14 genes in patients with disorders of sex development using an indigenously developed 5′ exonuclease based assay
  15. Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
  16. Permanent neonatal diabetes mellitus in Jordan
  17. The effect of adenotonsilectomy on ghrelin, leptin, IGF-1 levels and growth parameters in children with adenotonsillar hypertrophy
  18. The role of anti-Mullerian and inhibin B hormones in the evaluation of 46,XY disorders of sex development
  19. The evaluation of thyroid carcinoma in childhood and concomitance of autoimmune thyroid disorders
  20. Lipid patterns in treated growth hormone deficient children vs. short stature controls
  21. Assessment of aortic morphology and compliance in children and adolescents with Ullrich-Turner syndrome (UTS) using magnetic resonance imaging (MRI)
  22. Management of central diabetes insipidus with oral desmopressin lyophilisate in infants
  23. Maternal factors and complications of preterm birth associated with neonatal thyroid stimulating hormone
  24. Patient reports
  25. A rare case of pituitary infarction leading to spontaneous tumour resolution and CSF-sella syndrome in an 11-year-old girl and a review of the paediatric literature
  26. Rare case of homozygous epimerase deficiency and heterozygous of duarte 2 variant
  27. Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p
  28. Growth hormone treatment in a patient with Hurler-Scheie syndrome
  29. Neonatal diagnosis of a patient with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome associated with cerebral infarction
  30. Early-onset diabetes mellitus and neurodevelopmental retardation: the first Greek case of Wolcott-Rallison syndrome
  31. Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus
  32. Cushing’s syndrome: hidden risk in usage of topical corticosteroids
  33. Prader-Willi syndrome: a case report with atypical developmental features
  34. Berardinelli-Seip congenital lipodystrophy: an autosomal recessive disorder with rare association of duodenocolonic polyps
  35. Ectopic Cushing syndrome secondary to metastatic medullary thyroid cancer in a child with multiple endocrine neoplasia syndrome type 2B: clues to early diagnosis of the paraneoplastic syndromes
  36. Ovarian hyperstimulation syndrome treated by medroxyprogesterone acetate
  37. Symptomatic cerebral infarction in a child with severe diabetic ketoacidosis
  38. A rare case of familial Cushing’s syndrome with a common presentation of weight gain due to a mutation of the PRKAR1A gene causing isolated primary pigmented nodular adrenocortical disease
  39. Multiple autoimmunity, type 1 diabetes (T1DM), autoimmune thyroiditis and thyroid cancer: is there an association? A case report and literature review
  40. Cholestasis and protein-losing enteropathy secondary to hyperthyroidism in a 6-year-old girl
  41. Short communication
  42. An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis
  43. Letter to the Editor
  44. Pubertal gynecomastia: what about the remaining 10%?
Downloaded on 4.12.2025 from https://www.degruyterbrill.com/document/doi/10.1515/jpem-2013-0444/html
Scroll to top button