Keywords
Endocrine System Disease
Thyroid Hormones
Diabetes Mellitus
Growth
Obesity
Puberty
Fertility
Lipid Metabolism Disorders
Pediatrics
How to Cite
Abstract
Down syndrome is the most common chromosomal disorder worldwide, affecting 6,03 to 7,86 per 10.000 live births in Colombia. Pediatric patients with Down syndrome have a higher incidence of endocrine disorders compared to the general population. The aim of this paper was to review the endocrinological manifestations prevalent in pediatric patients with Down syndrome related to small stature, pubertal development, thyroid dysfunction, diabetes mellitus, dyslipidemia, and obesity. Additionally, their follow-up and adequate treatment are described. A literature search was carried out from August 2020 to December 2021 in the PubMed and Google Scholar databases. A total of 44 publications were included for this review. It is concluded that pediatric patients with Down syndrome are more likely to have short stature and have a higher risk of obesity and overweight. In addition, thyroid dysfunction and diabetes mellitus are frequent complications.
References
Karkera S. A Current Knowledge of “Down Syndrome: A Review.” Int J Dent Med Sci Res. 2021;3(1):805–810.
Guaraldi F, Rossetto Giaccherino R, Lanfranco F, Motta G, Gori D, Arvat E, et al. Endocrine Autoimmunity in Down’s Syndrome. Front Horm Res. 2017;48:133–146.
Jenkins L, Mora E, Moreno J, Navarro L, Sánchez G, Singh N, et al. Factores de Riesgo Asociados a la Presentacuón de Síndrome de Down. Enero 2002-Diciembre 2004. Hospital del Niño. Panamá. 2004;62–65.
Instituto Nacional de Salud. Modelo de monitoreo de comportamientos inusuales o conglomerados de defectos congénitos [Internet]. 2020. [citado 2022 Jun 6]. Disponible en: https://www.ins.gov.co/buscador-eventos/BoletinEpidemiologico/2018%20Bolet%C3%ADn%20epidemiol%C3%B3gico%20semana%2036.pdf.
Instituto Nacional de Salud. Boletín Epidemiológico Semanal [Internet]. 2018. [citado 2022 Jun 6]. Disponible en: https://www.ins.gov.co/buscador-eventos/BoletinEpidemiologico/2020_Boletin_epidemiologico_semana_8.pdf.
Peñaloza R, Salamanca N, J R. Estimación de la carga de enfermedad para Colombia. 1st ed. Bogotá: Universidad Javeriana [Internet]. 2012. [citado 2022 Jun 6]. Disponible en: https://repository.javeriana.edu.co/handle/10554/40972.
Ramírez MRE, Isaza C, Gutiérrez MI. La incidencia del síndrome de Down en Cali. Colomb Med. 1996;27(3–4):138–142.
Bull MJ. Down syndrome. N Engl J Med. 2020;382(24):2344–2352.
Díaz-Cuéllar S, Yokoyama-Rebollar E, Del CastlloRuiz V. Genómica de síndrome de down. Acta Pediatr Mex. 2016;37(5):289–96.
Hall B. Mongolism in Newborn Infants: An Examination of the Criteria for Recognition and Some Speculations on the Pathogenic Activity of the Chromosomal Abnormality. Clin Pediatr (Phila). 1966;5(1):4–12.
Roizen NJ, Patterson D. Down’s syndrome. Lancet. 2003;361:1281–1289.
Lirio Casero JL, García Pérez JG. Protocolo de seguimiento del síndrome de down. Pediatr Integr. 2014;18(8):539–49.
Whooten R, Schmitt J, Schwartz A. Endocrine Manifestations of Down Syndrome. Curr Opin Endocrinol Diabetes Obes. 2018;25(1):61–66.
Hasle H, Haunstrup Clemmensen I, Mikkelsen M. Risks of leukaemia and solid tumours in individuals with Down’s syndrome. Lancet. 2000;355(9199):165–9.
Regueras L, Prieto P, Muñoz-Calvo MT, Pozo J, Arguinzoniz L, Argente J. Alteraciones endocrinológicas en 1.105 niños y adolescentes con síndrome de Down. Med Clin (Barc). 2011;136(9):376–81.
Golden SH, Robinson KA, Saldanha I, Anton B, Ladenson PW. Prevalence and incidence of endocrine and metabolic disorders in the united states: A comprehensive review. J Clin Endocrinol Metab. 2009;94(6):1853–78.
Hawli Y, Nasrallah M, Fuleihan GEH. Endocrine and musculoskeletal abnormalities in patients with Down syndrome. Nat Rev Endocrinol. 2009;5(6):327–34.
Arnell H, Gustafsson J, Ivarsson SA, Annerén G. Growth and pubertal development in Down syndrome. Acta Paediatr Int J Paediatr. 1996;85(9):1102–6.
Van Gameren-Oosterom HBM, van Dommelen P, Oudesluys-Murphy AM, Buitendijk SE, van Buuren S, van Wouwe JP. Healthy growth in children with down syndrome. PLoS One. 2012;7(2):1–8.
Torrado C, Bastian W, Wisniewski KE, Castells S. Treatment of children with Down syndrome and growth retardation with recombinant human growth hormone. J Pediatr. 1991;119(3):478–83.
Anneren G, Gustavson KH, Sara VR, Tuvemo T. Growth retardation in Down syndrome in relation to insulin-like growth factors and growth hormone. Am J Med Genet. 1990;62(SUPPL. 7):59–62.
Gorla JI, Duarte E, Costa LT, Freire F. Crescimento de crianças e adolescentes com síndrome de Down - Uma breve revisão de literatura. Rev Bras Cineantropometria e Desempenho Hum. 2011;13(3):230–7.
Rubio Gonzalez T, Norbert Vásquez L, García Gonzalez D de la C. Evaluación del crecimiento y desarrollo de pacientes con síndrome Down en Santiago de Cuba. Medisan. 2018;22(1):20–7.
Pastor X. Tablas de crecimiento actualizadas de los niños españoles con síndrome de Down. Rev Médica Int Sobre el Síndrome de Down. 2004;8(2004):34–46.
Zemel BS, Pipan M, Stallings VA, Hall W, Schadt K, Freedman DS, et al. Growth Charts for Children With Down Syndrome in the United States. Pediatrics. 2015;136(5):e1204–11.
Pérez EJP, Baró EHG. Control de la obesidad en niños con síndrome de down. Rev Cuba Med Gen Integr. 2011;27(2).
Hatch-Stein JA, Zemel BS, Prasad D, Kalkwarf HJ, Pipan M, Magge SN, et al. Body composition and BMI growth charts in children with down syndrome. Pediatrics. 2016;138(4).
Jenco M. Study: Use CDC BMI charts when screening children with Down syndrome for obesity [Internet]. American Academy of Pediatrics. 2016 [citado 2020 Aug 11]. Disponible en: https://publications.aap.org/aapnews/news/14063.
Pradhan M, Dalal A, Khan F, Agrawal S. Fertility in men with Down syndrome: a case report. Fertil Steril. 2006;86(6):1765.e1-1765.e3.
Grinspon RP, Bedecarrás P, Ballerini MG, Iñiguez G, Rocha A, Mantovani Rodrigues Resende EA, et al. Early onset of primary hypogonadism revealed by serum anti-Müllerian hormone determination during infancy and childhood in trisomy 21. Int J Androl. 2011;34(5 PART 2):487–98.
Aversa T, Crisafulli G, Zirilli G, De Luca F, Gallizzi R, Valenzise M. Epidemiological and clinical aspects of autoimmune thyroid diseases in children with Down’s syndrome. Ital J Pediatr. 2018;44(1):1–5.
Aversa T, Valenzise M, Salerno M, Corrias A, Iughetti L, Radetti G, et al. Metamorphic thyroid autoimmunity in Down Syndrome: From Hashimoto’s thyroiditis to Graves’ disease and beyond. Ital J Pediatr. 2015;41(1):1–6.
Van Trotsenburg P, Stoupa A, Léger J, Rohrer T, Peters C, Fugazzola L, et al. Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update - An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology. Thyroid. 2021;31(3):387–419.
Bull MJ, Saal HM, Braddock SR, Enns GM, Gruen JR, Perrin JM, et al. Clinical report - Health supervision for children with Down syndrome. Pediatrics. 2011;128(2):393–406.
Processes G. L-thyroxine Therapy and Growth Processes. Adv Clin Exp Med. 2013;22(1):85–92.
Lughetti L, Lucaccioni L, Fugetto F, Mason A, Predieri B. Thyroid function in Down syndrome. Expert Rev Endocrinol Metab. 2015;10(5):525-532.
Amr NH. Thyroid disorders in subjects with down syndrome: An update. Acta Biomed. 2018;89(1):132–9.
Cebeci AN, Güven A, Yildiz M. Profile of hypothyroidism in Down’s syndrome. JCRPE J Clin Res Pediatr Endocrinol. 2013;5(2):116–20.
Amariti R, Clemente AM, Bassanese F, Regalbuto C, Vinci F, Larizza D, et al. Timing, prevalence, and dynamics of thyroid disorders in children and adolescents affected with down syndrome. J Pediatr Endocrinol Metab. 2020;33(7):885–91.
Lavigne J, Sharr C, Elsharkawi I, Ozonoff A, Baumer N, Brasington C, et al. Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study. Am J Med Genet Part A. 2017;173(6):1539–45.
King K, O’Gorman C, Gallagher S. Thyroid dysfunction in children with Down syndrome: A literature review. Ir J Med Sci. 2014;183(1):1–6.
Giménez-Barcons M, Casteràs A, Armengol M del P, Porta E, Correa PA, Marín A, et al. Autoimmune Predisposition in Down Syndrome May Result from a Partial Central Tolerance Failure due to Insufficient Intrathymic Expression of AIRE and Peripheral Antigens . J Immunol. 2014;193(8):3872–9.
Meyerovitch J, Antebi F, Greenberg-Dotan S, Bar-Tal O, Hochberg Z. Hyperthyrotropinaemia in untreated subjects with Down’s syndrome aged 6 months to 64 years: A comparative analysis. Arch Dis Child. 2012;97(7):595–8.
Goday-Arno A, Cerda-Esteva M, Flores-Le-Roux JA, Chillaron-Jordan JJ, Corretger JM, CanoPérez JF. Hyperthyroidism in a population with Down syndrome (DS). Clin Endocrinol (Oxf). 2009;71(–1):110–114
Rivkees SA. Controversies in the management of Graves’ disease in children. J Endocrinol Invest. 2016;39(11):1247–57.
Aitken RJ, Mehers KL, Williams AJ, Brown J, Bingley PJ, Holl RW, et al. Early-onset, coexisting autoimmunity and decreased HLAmediated susceptibility are the characteristics of diabetes in down syndrome. Diabetes Care. 2013;36(5):1181–5.
Alpera R, Morata J, López García MJ. Alteraciones endocrinoloǵicas en el síndrome de Down. Rev Esp Pediatr. 2012;68(6):440–4.
Kota SK, Tripathy PR, Kota SK, Jammula S. Type 2 diabetes mellitus: An unusual association with Down’s syndrome. Indian J Hum Genet. 2013;19(3):358–9.
Sakadamis A, Angelopoulou N, Matziari C, Papameletiou V, Souftas V. Bone mass, gonadal function and biochemical assessment in young men with trisomy 21. Eur J Obstet Gynecol Reprod Biol. 2002;100(2):208–12.
Bittles A, Glasson E. Clinical, social, and ethical implications of changing life expectancy in Down syndrome. Dev Med Child Neurol. 2004;46(04):282–6.
Wu J. Bone mass and density in preadolescent boys with and without Down syndrome. Osteoporos Int. 2013;24(11):2847–54.
Tsou AY, Bulova P, Capone G, Chicoine B, Gelaro B, Harville TO, et al. Medical Care of Adults with down Syndrome: A Clinical Guideline. JAMA - J Am Med Assoc. 2020;324(15):1543–56.
González-Agüero A, Vicente-Rodríguez G, Gómez-Cabello A, Ara I, Moreno LA, Casajús JA. A 21-week bone deposition promoting exercise programme increases bone mass in young people with Down syndrome. Dev Med Child Neurol. 2012;54(6):552–6.
Reza SM, Rasool H, Mansour S, Abdollah H. Effects of calcium and training on the development of bone density in children with Down syndrome. Res Dev Disabil. 2013;34(12):4304–9.
Almeida EW, Greguol M. Lipid profile in people with Down syndrome: A literature review. J Hum Growth Dev. 2020;30(2):197–208.
Adelekan T, Magge S, Shults J, Stallings V, Stettler N. Lipid profiles of children with Down syndrome compared with their siblings. Pediatrics. 2012;129(6).
Bull MJ, Saal HM, Braddock SR, Enns GM, Gruen JR, Perrin JM, et al. Clinical report - Health supervision for children with Down syndrome. Pediatrics. 2011;128(2):393–406.
Tsou AY, Bulova P, Capone G, Chicoine B, Gelaro B, Harville TO, et al. Medical Care of Adults with down Syndrome: A Clinical Guideline. JAMA - J Am Med Assoc. 2020;324(15):1543–56.
This work is licensed under a Creative Commons Attribution 4.0 International License.
Copyright (c) 2022 Médicas UIS