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2012, Number 1

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Rev Cuba Endoc 2012; 23 (1)

Influence of perinatal factors on the neonatal screening of congenital adrenal hyperplasia in Ciudad de La Habana

Espinosa RTM, Hernández BM, Carvajal MF, González RE, Domínguez AE

Language: Spanish
References: 43
Page:
PDF size: 284.42 Kb.


ABSTRACT

Introduction: the psychosocial and economic costs associated with the false-positive results of the neonatal screening of congenital adrenal hyperplasia are high.
Objectives: to identify the perinatal factors to get involved in the rise and in the normalization time of values of 17 hydroprogesterone (17OHP) in patients not involved by a congenital adrenal hyperplasia.
Methods: a retrospective, longitudinal and descriptive study was conducted in 1 114 patients from Ciudad de La Habana and La Habana with false-positive results according to screening from January, 2007 to June, 2010. Authors identified the differences in frequency of perinatal factors recognized in this group with a sample of general population, and other including congenital adrenal hyperplasia patients.
Results: from the false-positive patients, the 50.7 % was of male sex and the 49.3 % to the female one. The 54.7 % was born by cesarean section and the 82 % has not acute fetal suffering, those small for the gestational age and lower birth weight had mean levels of 17OHP higher. The 68.1 % normalized the OHP at one month of life, independently the type of labor and of the presence of acute fetal suffering but the gestational age and the birth weight had an inverse correlation with the persistence of its rise. There was predominance of eutocia labor in the sick and normal neonates and the cesarean section in the false-positive ones. The mean of gestational age and of the birth weight was significantly minor in the cases of the first group, compared with the remaining groups.
Conclusions: the prematurity and the low birth weight had a significant influence on the rise and the persistence of values of 17OHP, but not the type of labor and the acute fetal suffering.


REFERENCES

  1. Rodríguez-Arnao MD, Rodríguez A, Badillo K, Velasco A, Dulín E, Ezquieta B. Déficit de 21- hidroxilasa: aspectos actuales. Rev Endocrinol Nutr. 2006;53(2):124-36.

  2. Bouvattier C, Chatelain P. Congenital adrenal hyperplasia Rev Prat. 2008;58(9):990-4.

  3. Sepúlveda AJ. Hiperplasia adrenal congénita. Rev Chil Obstet Ginecol. 2003;68(1):28-31.

  4. Cattani OA, Reyes GM, Azócar PM, Soto MJ, Romeo OE, Valdivia VL, et al. Medición de 17OH progesterona sanguínea en recién nacidos chilenos: antecedentes para implementar un programa de detección neonatal de hiperplasia suprarrenal congénita. Rev Méd Chile. 2000;128(10):1113-8.

  5. Navaroli FF. Hormonas. Algunas consideraciones teórico-prácticas. Métodos de determinación. Interpretación de los resultados. INEN, 2005. (Comunicación personal).

  6. Soriano GL, Velázquez de Cuéllar PM. Hiperplasia suprarrenal congénita. Rev Pediatr Integral. 2007;11(7):601-10.

  7. Forest MG, Castro Feijó L. Hiperplasia suprarrenal congénita. En: Pombo M. Tratado de endocrinología pediátrica. 3ra ed. Madrid: McGraw-Hill Interamericana; 2002. p. 970-1005.

  8. Gebara E, Fernández MA, Rojas E, Amina A, López MR. Hiperplasia suprarrenal congénita perdedora de sal en varones durante el período neonatal ¿Es posible adelantarse a la emergencia metabólica? Arch Argent Pediatr. 2009;107(4):369-73.

  9. Stewart PM. La corteza suprarrenal. En: Kronenberg HM, Shlomo M, Polonsky KS, Reed Larsen P. Williams Tratado de Endocrinología. 11na ed. USA: Saunders Elsevier Inc; 2008. p. 495-8.

  10. Mustafa R, Hashmi HA, Ullah S. Congenital adrenal hyperplasia causing clitoromegaly. J Coll Physicians Surg Pak. 2008;18(6):378-9.

  11. Sahai I, Marsden D. Newborn screening. Critical Reviews in Clinical Laboratory Sciences. 2009;46(2):55-82.

  12. Labarta JI, Bello E, Ruiz-Echarri M, Rueda C, Martul P, Mayayo E, et al. Estado en la edad adulta y propuesta de optimización terapéutica de la hiperplasia suprarrenal congénita. An Pediatr Barc. 2003;58(2):12-34.

  13. Warman M, Rivarola MA, Belgorosky A. Hiperplasia Suprarrenal Congénita. Déficit de la enzima 21-Hidroxilasa. Revista de Endocrinología Ginecológica y Reproductiva [serie en internet]. 2008 [citado 3 de septiembre de 2010];3(1). Disponible en: http://ttvps.com/saegre/revista/numeros/2008/n1/3_hiperplasia.pdf

  14. Votava F, Török D, Kovack S, Möslinger D, Baumgartner-Parzer SM, Sólyom J, et al. Estimation of false negative rate in newborn screening for congenital adrenal hyperplasia. Eur J Endocrinol. 2005;152(6):869-74.

  15. White PC. Neonatal screening for congenital adrenal hyperplasia. Nature Reviews Endocrinology. 2009;5(9):490-8.

  16. Yoo B, Grosse S. The cost effectiveness of screening newborns for congenital adrenal hyperplasia. Public Health Genomics. 2009;12(2):67-72.

  17. Chaler E, Domené H, Muñoz L, Ruibal G. El laboratorio en la patología endocrinopediátrica. Rev argent endocrinol metab. 2007;44(3):95-8.

  18. González RE. Desarrollo de ultramicroensayos para el diagnóstico de la deficiencia de biotinidasa y la HAC en el programa cubano de pesquisa neonatal [tesis doctoral]. Centro de Inmunoensayo. La Habana; 2009.

  19. Nordenström A, Wedell A, Hagenfeldt L, Marcus C, Larsson A. Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants. Pediatrics. 2001;108(4):1-8.

  20. Speiser P. Prenatal and neonatal diagnosis and treatment of congenital adrenal hyperplasia. Hormone Research. 2007;68 Suppl:590-2.

  21. González EC, Marrero N, Pérez PL, Frómeta A, Zulueta O, Herrera D, et al. An enzyme inmunoassay for determining 17 hydroxyprogesterone in dried blood spots on filter paper using an ultramicroanalytical system. Clin Chem. 2008;acta 394:63-6.

  22. White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxilase deficiency. Endocrine Reviews. 2000;21(3):245-91.

  23. Tecnosuma. Informe anual de programas. 2010. (Comunicación personal).

  24. González-Lamuño D. Screening metabólico neonatal expandido. Bol Pediatr. 2008;48:329-31.

  25. Al Saedi S, Dean H, Dent W, Stockl E, Cronin C. Screening for congenital adrenal hyperplasia: the Delfia screening test overestimates serum 17-hydroxyprogesterone in preterm infants. Pediatrics. 1996;97:100-02.

  26. Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, et al. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2010;95(9):4133-60.

  27. Gleeson H, Wiley V, Wilcken B, Elliott E, Cowell C, Ambler G, et al. Two-year pilot study of newborn screening for congenital adrenal hyperplasia in New South Wales compared with nationwide case surveillance in Australia. Journal of Paediatrics and Child Health. 2008;44(10):554-9.

  28. Scott D, Van Vliet G. How Many Deaths can be prevented by Newborn Screening for Congenital Adrenal Hyperplasia? Hormone Research. 2007;67:284-91.

  29. Metz C, Morvan CH. Prematuridad y despistaje neonatal de la hiperplasia congénita de las suprarrenales por déficit de 21-hidroxilasa. Journal D'endocrinologie Pediatrique [serie en internet]. 2001 [citado 21 de noviembre de 2010];2(3). Disponible en: http://pediatrics.aappublications.org

  30. Licourt D, Pérez M. Déficit de 21-hidroxilasa: aspectos actuales. Rev Ciencias Médicas. Pinar del Río [serie en internet]. 2009 [citado 21 de noviembre de 2010];13(1). Disponible en: http://scielo.sld.cu/scielo.php?pid=S1561-31942009000100014&script=sci_arttext

  31. Ochetti M, Sobrero G, Silvano L, Nieva V, Dipoi M, Tkalenko N, et al. Pesquisa neonatal de Hiperplasia Adrenal Congénita: niveles de corte de 17OH progesterona en una población de Córdoba, Argentina 2010 [monografía en internet] [citado 21 de noviembre de 2010]. Disponible en: http://www.cobico.com.ar/wp-content/archivos/Trabajo-Dra-Ochetti-2010-final.pdf

  32. Slaughter J, Meinzen-Derr J, Rose SR, Leslie N, Chandrasekar R, Linard S, et al. The Effects of Gestational Age and Birth Weight on Newborn-Screening. Pediatrics. 2010;126(5):910-6.

  33. Kaye CI. Newborn Screening Fact Sheets. Pediatrics. 2006;118(3):934-63.

  34. Van der Kamp H, Oudshoorn CG, Elvers BH, van Baarle M, Otten BJ, Wit J, et al. Cutoff levels of 17-hydroxyprogesterone in neonatal screening for congenital adrenal hyperplasia should be based on gestational age rather than on birth weight. J Clin Endocrinol Metab. 2005;90:3904-7.

  35. Hung Llamos S. Endocrinología de la gestación. En: Hung Llamos S. Endocrinología en ginecología. Tomo I. La Habana: Editorial Ciencias Médicas; 2006. p. 52-80.

  36. Porto AS, González MB, Santurio AM, Domínguez F. Recién nacido de alto riesgo. En: Colectivo de autores. Pediatría. Tomo 1. La Habana: Editorial Ciencias Médicas; 2006. p. 348-59.

  37. Ersch J, Beinder E, Stallmach T, Bucher HU, Torresani T. 17-Hydroxyprogesterone in premature infants as a marker of intrauterine stress. J Perinat Med. 2008;36(2):157-60.

  38. Matthews SG. Desarrollo del eje hipotálamo-hipofiso-adrenal. En: Pombo M. Tratado de endocrinología pediátrica. 3ra ed. Madrid: McGraw-Hill Interamericana; 2002. p. 186-95.

  39. Al Saedi S, Dean HJ, Dent W, Cronin C. Reference ranges for serum cortisol and 17-hydroxyprogesterone levels in preterm infants. J Pediatr. 1995;126:985-7.

  40. Linder N, Davidovitch N, Kogan A, Barzilai A, Kuint J, Mazkeret R, et al. Longitudinal measurements of 17 alpha-hydroxyprogesterone in premature infants during the first three months of life. Arch Dis Child Fetal Neonatal. 1999;81(3):175-8.

  41. Soardi FC, Lemos-Marini SH, Borchers Coeli F, Gonçalves Maturana V, Duarte Barbosa da Silva M, Darin Bernardi R, et al. Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening. Arq Bras Endocrinol Metab. 2008;52(8):1388-92.

  42. Fingerhut R. False positive rate in newborn screening for congenital adrenal hyperplasia (CAH)-ether extraction reveals two distinct reasons for elevated 17alpha-hydroxyprogesterone (17OHP) values. Steroids. 2009;74(8):662-5.

  43. Gruñieiro-Papendieck L, Chiesa A, Méndez V, Prieto L. Neonatal screening for congenital adrenal hyperplasia: experience and results in Argentina. J Pediatr Endocrinol Metab. 2008;21(1):73-8.




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