Frequency of Thyroid Dysfunction and Congenital Heart Defects in Subjects with Down Syndrome

  • Erum Afzal THE CHILDREN HOSPITAL AND THE INSTITUTE OF CHILD HEALTH MULTAN
  • Muhammad Sohail Arshad THE CHILDREN HOSPITAL AND THE INSTITUTE OF CHILD HEALTH MULTAN
  • Waqas Imran Khan THE CHILDREN HOSPITAL AND THE INSTITUTE OF CHILD HEALTH MULTAN
Keywords: Down syndrome, Congenital heart disease, hypothyroidism.

Abstract

ABSTRACT:

Background: Down syndrome (DS) is the most common chromosomal abnormality with prevalence of 1 in 700-1500 live births. Its manifestations may include congenital heart defects(CHD), thyroid dysfunctions, hematopoietic disorders, early-onset Alzheimer disease, gastrointestinal disorders, neuromuscular weakness, hearing and visual problems, characteristic facial and physical features. The prevalence of thyroid disorders and congenital heart diseases are higher in DS patients than in general population.

Objective:To explore the frequency, and types of congenital heart defects (CHD) and Thyroid disorders in children with Down syndrome (DS) in the children hospital and the institute of child health (CHICH) Multan.

Study design:  Descriptive cross sectional

Setting: Outpatient department (OPD) of CHICH Multan

Method:A total of 158 down syndrome (DS) patients of 0 to 15 years of age, of both genders were included in this study from October 2019 to October 2020. DS was diagnosed by specific clinical features and karyotyping. Age, sex and mother’s age was noted. Blood samples of all the patients were sent for karyotyping and serum T4 and Thyroid stimulation hormone (TSH). For patients more than 36 months, blood samples were also sent for Antithyroglobulin and antithyroid peroxidase antibodies. Echocardiography of all the patients was done. Data was collected and analyzed by using SPSS version 16.0.

Results:Out of 158 DS children most presented below 6months of age, with male to female ratio of 1:1.4. Mostly mothers were between 20 to 40 years of age. Karyotyping revealed non disjunction in 97% of cases. Cardiac abnormalities were found in 48% of DS children. Most common Type was VSD (10.9%), Thyroid abnormalities were detected in 24% of DS patients, subclinical hypothyroidism (13.9%) was most common.

Conclusion: CHD and Thyroid disorders must be ruled out in all DS patients,to start early management.

 Keywords: Down syndrome, Congenital heart disease, hypothyroidism.

Author Biographies

Erum Afzal, THE CHILDREN HOSPITAL AND THE INSTITUTE OF CHILD HEALTH MULTAN

Assistant Professor Developmental Pediatrics

Muhammad Sohail Arshad, THE CHILDREN HOSPITAL AND THE INSTITUTE OF CHILD HEALTH MULTAN

Associate professor paeds cardiology

Waqas Imran Khan, THE CHILDREN HOSPITAL AND THE INSTITUTE OF CHILD HEALTH MULTAN

Associate professor of pediatric Endocrinology

References

REFERENCES.
1. Guaraldi F. Giaccherino R. Lanfranco F. Motta G. Gori D. Arvat E. et.al. Endocrine autoimmunity in Down’s syndrome. Horm Res. 2017;48:133–146.

2. Gardiner KJ. Molecular basis of pharmacotherapies for cognition in Down syndrome. Trends Pharmacol Sci. 2010;31:66–73.


3. Nermine H. Amr. Thyroid disorders in subjects with Down syndrome: an update. Acta Biomed. 2018; 89(1): 132–139

4. Real de Asua D. Quero M. Moldenhauer F. Suarez C. Clinical profile and main comorbidities of Spanish adults with Down syndrome. Eur J Intern Med. 2015;26:385–391.


5. Campos C. Casado A. Oxidative stress, thyroid dysfunction & Down syndrome. Indian J Med Res. 2015;142:113–119.

6. Jiang J, Jing Y, Cost GJ, et al. Translating dosage compensation to trisomy 21. Nature. 2013;500:296–300.


7. Wiseman FK, Al-Janabi T, Hardy J, et al. A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome. Nat Rev Neurosci. 2015;16:564–74.

8. Malt EA, Dahl RC, Haugsand TM, et al. Health and disease in adults with Down syndrome. Tidsskr Nor Laegeforen. 2013;133:290–4.


9. Hattori M, Fujiyama A, Taylor TD, et al. The DNA sequence of human chromosome 21. Nature. 2000;405:311–9.

10. Pierce M. LaFranchi S. Pinter J. Characterization of Thyroid Abnormalities in a Large Cohort of Children with Down Syndrome. Horm Res Paediatr. 2017;87:170–178.


11. Kariyawasam D. Carré A. Luton D. Polak M. Down syndrome and nonautoimmune hypothyroidisms in neonates and infants. Horm Res Paediatr. 2015;83:126–131.

12. King K. O’Gorman C. Gallagher S. Thyroid dysfunction in children with Down syndrome: a literature review. Ir J Med Sci. 2014;183:1–6.


13. Cebeci AN. Güven A. Yıldız M. Profile of hypothyroidism in Down’s syndrome. J Clin Res PediatrEndocrinol. 2013;5:116–120.

14. Purdy IB. Singh N. Brown WL. Vangala S. Devaskar UP. Revisiting early hypothyroidism screening in infants with Down syndrome. J Perinatol. 2014;34:936–940.


15. Claret C. Goday A. Benaiges D. Chillarón JJ. Flores JA. Hernandez E. et. al. Subclinical hypothyroidism in the first years of life in patients with Down syndrome. Pediatr Res. 2013;73:674–678.

16. De Luca F. Corrias A. Salerno M. Wasniewska M. Gastaldi R. Cassio A. et. al. Peculiarities of Graves’ disease in children and adolescents with Down’s syndrome. Eur J Endocrinol. 2010;162:591–595


17. Gu Y. Harada S. Kato T. Inomata H. Aoki K. Hirahara F. Increased incidence of extrathyroidal congenital malformations in Japanese patients with congenital hypothyroidism and their relationship with Down syndrome and other factors. Thyroid. 2009;19:869–879.
18. Nussbaum RL, McInnes RR, Willard HF. In: Thompson & Thompson Genetics in Medicine (8th ed.), Philadelphia, PA: Elsevier Publishers, Chapter 6, 2016: 178-183.
19. Abdel-Hady El-Gilany, SohierYahia, YahyaWahba Prevalence of congenital heart diseases in children with Down syndrome in Mansoura, Egypt: a retrospective descriptive study. Ann Saudi Med. Sep-Oct 2017;37(5):386-392.

20. Muhammad Yaqoob, Jaida Manzoor, Syed Najam Hyder, Masood Sadiq. Congenital heart disease and thyroid dysfunction in Down syndrome reported at Children’s Hospital, Lahore, Pakistan. The Turkish Journal of Pediatrics 2019; 61: 915-924

21. Benhaourech, Sanaa, Drighil, Abdenasser, and El Hammiri Ayoub, Congenital heart disease and Down syndrome: various aspects of a confirmed association. Cardiovasc J Afr. 2016 Sep-Oct; 27(5): 287–290.
22. Benn PA, Perle MA. Chromosome staining and banding techniques. In: Rooney DE, Czepulkowski BH (eds). Human Cytogenetics A Practical Approach. Oxford, Washington DC: IRL Press, 1986: 57-84.
23. Shaw CK, Thapalial A, Nanda S, Shaw P. Thyroid dysfunction in Down syndrome. Kathmandu Uni Med J (KUMJ) 2006; 4: 182-186.
24. Vilas Boas LT, Albernaz EP, Costa RG. Prevalence of congenital heart defects in patients with Down syndrome in the municipality of Pelotas, Brazil. J Pediatr (Rio J) 2009; 85: 403-407.
25. Ahmed I, Ghafoor T, Samore NA, Chattha MN. Down syndrome: clinical and cytogenetic analysis. J Coll Physicians Surg Pak 2005; 15: 426-429.
26. El-Gilany AH, Yahia S, Shoker M, El-Dahtory F. Cytogenetic and comorbidity profile of Down syndrome in Mansoura University Children's Hospital, Egypt. Indian J Hum Genet 2011; 17: 157163
27. Mia Sotonica , MirelaMackic-Djurovic, SabahetaHasic, et al. Association of Parental Age and the Type of Down Syndrome on the Territory of Bosnia and Herzegovina. Epub 2016 Apr ;70(2):88-91. doi: 10.5455/medarh.2016.70.88-91.
28. Sadoh WE, Eki-Udoko FE, Isah IA. Profile of clinical features, congenital heart disease and other comorbidities in children with Down syndrome in a tertiary care centre in Nigeria. Sri Lanka J Child Health 2018; 47: 50-55.
29. Jalili Z, Jalili C. Congenital heart disease in children with Down syndrome in Kermanshah, West of Iran during 2002 – 2016. Int J Pediatr 2017; 5: 6095-6102.
30. Layangool T, Sangtawesin C, Kirawittaya T, Prompan W, Prachasilchai P, Pechdamrongsakul A. Survival analysis of Down syndrome with congenital heart disease: A 5-years registry at QSNICH. J Med Assoc Thai 2014; 97(Suppl 6): S108-S114.
31. Vida VL, Barnoya J, Larrazabal LA, Gaitan G, Garcia FM, Castañeda AR. Congenital cardiac disease in children with Down's syndrome in Guatemala. Cardiol Young 2005; 15: 286-290.
32. Freeman SB, Bean LH, Allen EG, et al. Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project. Genet Med 2008; 10: 173-180.
33. Iughetti L, Predieri B, Bruzzi P, et al. Ten-year longitudinal study of thyroid function in children with Down’s syndrome. Horm Res Paediatr 2014; 82: 113-121.
34. Ali FE, Bayoumy HA, Mohammad ASR, Al-Busairi WA, Al-Othman ANA. Thyroid function in Kuwaiti subjects with Down’s syndrome. Med Princ Pract 2002; 11: 206-209.
35. Unachak K, Tanpaiboon P, Pongprot Y, et al. Thyroid functions in children with Down’s syndrome. J Med Assoc Thai 2008; 91: 56-61.
36. Shaw CK, Thapalial A, Nanda S, Shaw P. Thyroid dysfunction in Down syndrome. Kathmandu Uni Med J (KUMJ) 2006; 4: 182-186.
37. Chen MH, Chen SJ, Su LY, Yang W. Thyroid dysfunction in patients with Down syndrome. Acta Paediatr Taiwan 2007; 48: 191-195.
38. Pierce MJ, LaFranchi SH, Pinter JD. Characterization of thyroid abnormalities in a large cohort of children with Down syndrome. Horm Res Paediatr 2017; 87: 170-178.
39. Gibson PA, Newton RW, Selby K, Price DA, Leyland K, Addison GM. Longitudinal study of thyroid function in Down’s syndrome in the first two decades. Arch Dis Child 2005; 90: 574-578.
Published
2021-06-30
How to Cite
1.
Afzal E, Arshad M, Khan W. Frequency of Thyroid Dysfunction and Congenital Heart Defects in Subjects with Down Syndrome. JRMC [Internet]. 30Jun.2021 [cited 4Dec.2021];25(2):213-7. Available from: http://www.journalrmc.com/index.php/JRMC/article/view/1560
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