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Boletín Médico del Hospital Infantil de México

2013, Number 6

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Bol Med Hosp Infant Mex 2013; 70 (6)

Turner syndrome: experience with a select group from the Mexican population

Domínguez HC, Torres MA, Álvarez HL, López-Collada VR, Murguía-Peniche T

Language: Spanish
References: 32
Page: 467-476
PDF size: 369.87 Kb.


ABSTRACT

Background. Turner syndrome (TS) is a condition that presents in females with partial or total absence of the X chromosome. The aim of this article is to describe, in a select group of patients with Turner syndrome, comorbidity associated with this entity, diagnostic difficulties and some aspects related to the social environment of these patients. Analyzed data were obtained from members of the Turner Syndrome Association of Mexico AC.
Methods. A questionnaire was administered and anthropometric measurements and laboratory studies were performed to explore comorbidities as well as diagnostic and social problems presented in these patients.
Results. There was a delayed diagnosis and inadequate follow-up of these patients with poor detection of comorbidities and a probable lack of social integration of those females born with this syndrome.
Conclusions. We need to continuously educate the medical community in regard to early detection and referral of these patients, both in the primary care setting as well as in the community, and also to implement strategies to improve social performance of those with Turner syndrome.


REFERENCES

  1. Morgan T. Turner syndrome: diagnosis and management. Am Fam Physician 2007;76:405-417.

  2. Boundy CA, Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab 2007;92:10-25.

  3. Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med 2004;351:1227-1238.

  4. Kesler SR. Turner Syndrome. Child Adolesc Psychiatr Clin North Am 2007;16:709-722.

  5. Elsheikh M, Dunger DB, Conway GS, Wass JA. Turner’s syndrome in adulthood. Endocr Rev 2002;23:120-140.

  6. Sybert VP. Cardiovascular malformations and complications in Turner syndrome. Pediatrics 1998;101:E11.

  7. Mazzanti L, Cacciari E. Congenital heart disease in patients with Turner’s syndrome. Italian Study Group for Turner Syndrome (ISGTS). J Pediatr 1998;133:688-692.

  8. Lippe B. Turner syndrome. Endocrinol Metab Clin North Am 1991;20:121-152.

  9. Berdahl LD, Wenstrom KD, Hanson JW. Web neck anomaly and its association with congenital heart disease. Am J Med Genet 1995;56:304-307.

  10. Völkl TM, Degenhardt K, Koch A, Simm D, Dörr HG, Singer H. Cardiovascular anomalies in children and young adults with Ullrich-Turner syndrome: the Erlangen experience. Clin Cardiol 2005;28:88-92.

  11. Gravholt CH, Juul S, Naeraa RW, Hansen J. Morbidity in Turner syndrome. J Clin Epidemiol 1998;51:147-158.

  12. Saenger P. Clinical review 48: the current status of diagnosis and therapeutic intervention in Turner’s syndrome. J Clin Endocrinol Metab 1993;77:297-301.

  13. Haeusler G, Frisch H. Growth hormone treatment in Turner’s syndrome: short and long-term effects on metabolic parameters. Clin Endocrinol (Oxf) 1992;36:247-253.

  14. Wilson DM, Frane JW, Sherman B, Johanson AJ, Hintz RL, Rosenfeld RG. Carbohydrate and lipid metabolism in Turner syndrome: effect of therapy with growth hormone, oxandrolone and a combination of both. J Pediatr 1998;112:210-217.

  15. Gravholt CH, Naeraa RW, Nyholm B, Gerdes LU, Christiansen E, Schmitz O, et al. Glucose metabolism, lipid metabolism, and cardiovascular risk factors in adult Turner’s syndrome. The impact of sex hormone replacement. Diabetes Care 1998;21:1062-1070.

  16. Saenger P, Wikland KA, Conway GS, Davenport M, Gravholt CH, Hintz R, et al. Recommendations for the diagnosis and management of Turner syndrome. J Clin Endocrinol Metab 2001;86:3061-3069.

  17. Sybert VP. Turner syndrome. En: Cassidy SB, Allanson JE, eds. Management of Genetic Syndromes. New York: John Wiley and Sons; 2001. pp. 459-849.

  18. Elsheikh M, Wass JA, Conway GS. Autoimmune thyroid syndrome in women with Turner’s syndrome—the association with karyotype. Clin Endocrinol (Oxf) 2001;55:223-226.

  19. Sylvén L, Hagenfeldt K, Bröndum-Nielsen K, von Schoultz B. Middle-aged women with Turner’s syndrome. Medical status, hormonal treatment and social life. Acta Endocrinol (Copenh) 1991;125:359-365.

  20. Roulot D, Degott C, Chazouillèrs O, Oberti F, Calès P, Carbonell N, et al. Vascular involvement of the liver in Turner’s syndrome. Hepatology 2004;39: 239-247.

  21. Frías JL, Davenport ML; Committee on Genetics and Section on Endocrinology. Health supervision for children with Turner syndrome. Pediatrics 2003;111:692-702.

  22. Fernández JR, Redden DT, Pietrobelli A, Allison DB. Waist circumference percentiles in nationally representative samples of African-American, European-American, and Mexican-American children and adolescents. J Pediatr 2004;145:439-444.

  23. Garrow JS, Webster J. Quetelet’s index (W/H2) as a measure of fatness. Int J Obes 1985;9:147-153.

  24. Centers for Disease Control and Prevention. Growth Charts. Disponible en: http://www.cdc.gov/growthcharts

  25. World Health Organization. Obesity: preventing and managing the global epidemic. Report of a WHO Consultation on Obesity. WHO/NUT/NCD/98.1. Geneva, Switzerland: WHO; 1998.

  26. Report of the Second Task Force on Blood Pressure Control in Children-1987. Task Force on Blood Pressure Control in Children. National Heart, Lung, and Blood Institute, Bethesda, Maryland. Pediatrics 1987;79:1-25.

  27. Hickman TB, Briefel RR, Carroll MD, Rifkind BM, Cleeman JI, Maurer KR, et al. Distributions and trends of serum lipid levels among United States children and adolescents ages 4-19 years: data from the Third National Health and Nutrition Examination Survey. Prev Med 1998;27:879-890.

  28. Zimmet P, Alberti KG, Kaufman F, Tajima N, Silink M, Arslanian S, et al. The metabolic syndrome in children and adolescents —an IDF consensus report. Pediatr Diabetes 2007;8:299-306.

  29. Instituto Nacional de Estadística, Geografía e Informática; Instituto Nacional de las Mujeres. Mujeres y Hombres en México 2007. México: INEGI; 2007. pp. 199-254.

  30. Gravholt CH, Juul S, Naeraa RW, Hansen J. Prenatal and postnatal prevalence of Turner’s syndrome: a registry study. BMJ 1996;312:16-21.

  31. Gravholt CH. Epidemiological, endocrine and metabolic features in Turner syndrome. Eur J Endocrinol 2004;151: 657-687.

  32. Secretaría de Salud; Instituto Nacional de Salud Pública. Encuesta Nacional de Salud 2012 (ENSANUT, 2012). México: SSA/INSP; 2012.




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