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Abstract
RÉSUMÉ
La trisomie 21 ou syndrome de Down (SD) est une aberration chromosomique, caractérisée par une déficience intellectuelle. Elle est souvent associée à des troubles de la fonction thyroïdienne, avec une prédominance de l’hypothyroïdie. Son association à l’hyperthyroïdie est rare. Nous rapportons le cas d’un enfant de 9 ans, atteint de SD reçu dans un contexte d’amaigrissement, goitre, tachycardie et exophtalmie chez qui le bilan hormonal retrouvant une TSH˂ 0,005 µUI/ml (0,27-4,2 µUI/ml) et une FT4 : 81,3 pmol/l (12- 22 pmol/l), les TRAb> 68 IU/l a permis de poser le diagnostic d’une hyperthyroïdie (maladie de Basedow). La prise en charge a été faite selon les recommandations et l’évolution était favorable.
ABSTRACT
Trisomy 21 or Down syndrome (DS) is a chromosomal aberration, characterized by intellectual disability. It is often associated with disorders of thyroid function, with a predominance of hypothyroidism. Its association with hyperthyroidism is rare. We report the case of a 9-year-old child with DS seen in a context of weight loss, goiter, tachycardia and exophthalmos in whom the hormonal assessment found TSH˂ 0.005 µIU/ml (0.27-4.2 µIU/ml) and FT4: 81.3pmol/l (12-22 pmol/l), TRAb > 68 IU/l suggestive of the diagnosis of hyperthyroidism (Graves’ disease). The management was carried out according to the recommendations and the evolution was favorable.
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References
- Lejeune J, Gautier M, Turpin R. [Study of somatic chromosomes from 9 mongoloid children]. C R Hebd Seances Acad Sci 1959;248(11):1721-2
- Penrose LS, Smith GF. Down’s Anomaly. Boston: Little Brown, 1966.
- Hook EB. Chromosome abnormalities: Prevalence, risks and recurrence. In: Brock DLH, Rodeck CH, Ferguson-Smith MA, eds. Prenatal Diagnosis and Screening. Edinburgh: Churchill Livingstone, 1992:351-392.
- Venter PA, Christianson AL, Gericke GS, et al. Congenital anomalies in rural Black South African neonates – a silent epidemic? S Afr Med J 1995;85(1):15-20.
- Christianson AL. Down syndrome in sub-Saharan Africa. J Med Genet 1996;33(2):89-92. [http:// dx.doi.org/10.1136/jmg.33.2.89]
- Karlsson B, Gustafsson J, Hedov G, Ivarsson SA, Annéren G. Thyroid dysfunction in Down’s syndrome: Relation to age and thyroid autoimmunity. Arch Dis Child 1998;79(3):242-245.[http://dx.doi. org/10.1136/adc.79.3.242]
- Dinani S, Carpenter S. Down’s syndrome and thyroid disorder. J Ment Defi c Res 1990;34( Pt 2):187-93.
- Prasher VP, ed. Down syndrome and Alzheimer’s disease: Biological correlates. Abingdon, Oxon: Radcliffe Publishing, 2006.
- Rubello D, Pozzan GB, Casara D, et al. Natural course of subclinical hypothyroidism in Down’s syndrome: Prospective study results and therapeutic considerations. J Endocrinol Invest 1995;18(1):35-40.
- Tüysüz B, Beker DB. Thyroid dysfunction in children with Down’s syndrome. Acta Paediatr 2001;90(12):1389-1393. [http://dx.doi.org/10.1111/j.1651-2227.2001.tb01601.x]
- Roizen NJ, Patterson D. Down’s syndrome. Lancet, 2003, 361(9365): 1281-1289.
- https://doi.org/10.1016/S0140-6736(03)12987-X
- Jovanovic SV, Clements D and MacLeod K. Biomarkers of oxidative stress are significantly elevated in Down syndrome. Free Radical Biology & Medicine, 1998, 25(9):1044-1048. https://doi.org/10.1016/S0891-5849(98)00137-3
- Dias VM, Nunes JC, Araujo SS, et al. Etiological assessment of hyperthyrotropinemia in children with Down’s syndrome. Jornal De Pediatria, 2005, 81(1): 79-84. https://doi.org/10.1590/S0021-75572005000100015
- Gilchrist L. Thyrotoxicosis in a mongol. Br Med J 1946;1:237-238
- Fort P, Lifshitz F, Bellisario R et al. Abnormalities of thyroid function in infants with Down syndrome. J Pediatr 1984;104(4):545-9
- Fawzi E. Ali, Waleed A. Al-Busairi, and Fatema A. Al-Mulla Treatment of Hyperthyroidism in Down Syndrome: Case Report and Review of the Literature
- Research in Developmental Disabilities, Vol. 20, No. 4, pp. 297–303, 1999
- A Goday-Arno, M. Cerda-Esteva, JA Flores-Le-Roux,JJ Chillaron-Jordan, JM Corretger and JF Cano-Pérez. Hyperthyroidism in a population with Down syndrome (DS)Clinical Endocrinology (2009)71, 110–114. doi: 10.1111/j.1365-2265.2008.03419.x
- T. Kasole Lubala, O. Mukuku, T.Kayembe-Kitenge, et al . Thyroid dysfunction in Congolese subjects with Down syndrome. Theory Clin Pract Pediatr, 2020, 2(1): 38-43 doi: 10.25082/TCPP.2020.01.004
- S Moosa,D G Segal,A L Christianson,N E Gregersen. Thyroid dysfunction in a cohort of South African children with Down syndrome.
- S Afr Med J 2013;103(12 Suppl 1):966-970. DOI:10.7196/SAMJ.7111
- F.Kamoun T.Kamoun S.Loukil al. Dysthyroïdie et trisomie 21 ; Annales d'Endocrinologie Volume 75, Issues 5–6, Oct. 2014, PP 504-505
- MH Bhat, S. Saba, I. Ahmed, M.M.A. Kamili and Shaukat A. Khan. Graves’ Disease in a Down’s Syndrome Patient. Journal of Pediatric Endocrinology & Metabolism (2010), 23, 1181-1183
- ST Bom Costa , V. Albino , A. Peres , P. Ferreira. Graves' disease in a patient with Down syndrome: a shift from hyperthyroidism to hypothyroidism. BMJ Case Rep 2021 Sep 13;14(9):e242612. doi: 10.1136/bcr-2021-242612.
- J Sanz .Down syndrome and hyperthyroidism. Report of 3 cases. Rev Med Chil (1999) Aug;127(8):967-9.
- T.O. Akande. JO Adeleye ,N Sepu ,OI Awofisoye. Type 1 diabetes mellitus and Graves’ disease in Down’s syndrome- a rare combination. Afr. J. Med. med. Sci. (2016) 45, 299-301
References
Lejeune J, Gautier M, Turpin R. [Study of somatic chromosomes from 9 mongoloid children]. C R Hebd Seances Acad Sci 1959;248(11):1721-2
Penrose LS, Smith GF. Down’s Anomaly. Boston: Little Brown, 1966.
Hook EB. Chromosome abnormalities: Prevalence, risks and recurrence. In: Brock DLH, Rodeck CH, Ferguson-Smith MA, eds. Prenatal Diagnosis and Screening. Edinburgh: Churchill Livingstone, 1992:351-392.
Venter PA, Christianson AL, Gericke GS, et al. Congenital anomalies in rural Black South African neonates – a silent epidemic? S Afr Med J 1995;85(1):15-20.
Christianson AL. Down syndrome in sub-Saharan Africa. J Med Genet 1996;33(2):89-92. [http:// dx.doi.org/10.1136/jmg.33.2.89]
Karlsson B, Gustafsson J, Hedov G, Ivarsson SA, Annéren G. Thyroid dysfunction in Down’s syndrome: Relation to age and thyroid autoimmunity. Arch Dis Child 1998;79(3):242-245.[http://dx.doi. org/10.1136/adc.79.3.242]
Dinani S, Carpenter S. Down’s syndrome and thyroid disorder. J Ment Defi c Res 1990;34( Pt 2):187-93.
Prasher VP, ed. Down syndrome and Alzheimer’s disease: Biological correlates. Abingdon, Oxon: Radcliffe Publishing, 2006.
Rubello D, Pozzan GB, Casara D, et al. Natural course of subclinical hypothyroidism in Down’s syndrome: Prospective study results and therapeutic considerations. J Endocrinol Invest 1995;18(1):35-40.
Tüysüz B, Beker DB. Thyroid dysfunction in children with Down’s syndrome. Acta Paediatr 2001;90(12):1389-1393. [http://dx.doi.org/10.1111/j.1651-2227.2001.tb01601.x]
Roizen NJ, Patterson D. Down’s syndrome. Lancet, 2003, 361(9365): 1281-1289.
https://doi.org/10.1016/S0140-6736(03)12987-X
Jovanovic SV, Clements D and MacLeod K. Biomarkers of oxidative stress are significantly elevated in Down syndrome. Free Radical Biology & Medicine, 1998, 25(9):1044-1048. https://doi.org/10.1016/S0891-5849(98)00137-3
Dias VM, Nunes JC, Araujo SS, et al. Etiological assessment of hyperthyrotropinemia in children with Down’s syndrome. Jornal De Pediatria, 2005, 81(1): 79-84. https://doi.org/10.1590/S0021-75572005000100015
Gilchrist L. Thyrotoxicosis in a mongol. Br Med J 1946;1:237-238
Fort P, Lifshitz F, Bellisario R et al. Abnormalities of thyroid function in infants with Down syndrome. J Pediatr 1984;104(4):545-9
Fawzi E. Ali, Waleed A. Al-Busairi, and Fatema A. Al-Mulla Treatment of Hyperthyroidism in Down Syndrome: Case Report and Review of the Literature
Research in Developmental Disabilities, Vol. 20, No. 4, pp. 297–303, 1999
A Goday-Arno, M. Cerda-Esteva, JA Flores-Le-Roux,JJ Chillaron-Jordan, JM Corretger and JF Cano-Pérez. Hyperthyroidism in a population with Down syndrome (DS)Clinical Endocrinology (2009)71, 110–114. doi: 10.1111/j.1365-2265.2008.03419.x
T. Kasole Lubala, O. Mukuku, T.Kayembe-Kitenge, et al . Thyroid dysfunction in Congolese subjects with Down syndrome. Theory Clin Pract Pediatr, 2020, 2(1): 38-43 doi: 10.25082/TCPP.2020.01.004
S Moosa,D G Segal,A L Christianson,N E Gregersen. Thyroid dysfunction in a cohort of South African children with Down syndrome.
S Afr Med J 2013;103(12 Suppl 1):966-970. DOI:10.7196/SAMJ.7111
F.Kamoun T.Kamoun S.Loukil al. Dysthyroïdie et trisomie 21 ; Annales d'Endocrinologie Volume 75, Issues 5–6, Oct. 2014, PP 504-505
MH Bhat, S. Saba, I. Ahmed, M.M.A. Kamili and Shaukat A. Khan. Graves’ Disease in a Down’s Syndrome Patient. Journal of Pediatric Endocrinology & Metabolism (2010), 23, 1181-1183
ST Bom Costa , V. Albino , A. Peres , P. Ferreira. Graves' disease in a patient with Down syndrome: a shift from hyperthyroidism to hypothyroidism. BMJ Case Rep 2021 Sep 13;14(9):e242612. doi: 10.1136/bcr-2021-242612.
J Sanz .Down syndrome and hyperthyroidism. Report of 3 cases. Rev Med Chil (1999) Aug;127(8):967-9.
T.O. Akande. JO Adeleye ,N Sepu ,OI Awofisoye. Type 1 diabetes mellitus and Graves’ disease in Down’s syndrome- a rare combination. Afr. J. Med. med. Sci. (2016) 45, 299-301