Screening for Congenital Adrenal Hyperplasia in newborns at the Hospital General San Juan de Dios

Authors

  • K. Armas Departamento de Citohistología, Facultad de Ciencias Químicas y Farmacia, Universidad de San Carlos de Guatemala
  • K. Lange Departamento de Citohistología, Facultad de Ciencias Químicas y Farmacia, Universidad de San Carlos de Guatemala

DOI:

https://doi.org/10.54495/Rev.Cientifica.v19i2.158

Keywords:

congenital adrenal hyperplasia, 17α-hydroxiprogesterone, neonatal screening programs

Abstract

Congenital adrenal hyperplasia (CAH) is a collection of inherited disorders of esteroidogencsis, resulting on disruption of the normal physical and psychological development of those patients who suffer it. or causing death at a young age. The aim of this study was to evaluate 17α-hydroxyprogesterone levels in newborns, to determine the prevalence of CAH and the cutoff value in Guatemalan population. Eight hundred newborns from 6 to 60 hours of life, attended at the General Hospital San Juan de Dios in Guatemala City, were included. Blood samples were obtained by hand dorsum venipuncture and several blood drops were smeared on Schleicher and Schnell 903®
(S&.S 903®') filter paper. The method used for the 17α-OHP quantification was a solid phase radioimmunoassay.

CAH prevalence was 3.75 per 1000 live births, with a frequency of 1 every 266 live births. The reference value of 17α-OHP was established according to the newborns weight. For a weight greater than 3000 g a concentration of <28.6 ng/ml was calculated, for a weight of 2500g to 3000g a concentration of <25.50
ng/ml and for a weight from 1500 to 2500g a concentration of <37.53ng/ml.

Downloads

Download data is not yet available.

References

New MI. Basic and clinical aspects of congenital adrenal hyperplasia. J Steroid Biochem 1987; 27:1-7, https://doi.org/10.1016/0022-4731(87)90287-1 DOI: https://doi.org/10.1016/0022-4731(87)90287-1

Donohoue PA. Parker K. Migeon C. Congenital adrenal hyperplasia. 2929-2966 p. (In: Scrivcr CR. Beandct AL. Sly WS, Valk D. eds. The metabolic and molecular basis of disease. 7th ed. New York: McGraw-Hill, 1995)

Pang S. Congenital adrenal hyperplasia. Endocrinology and Metabolism Clinics 1997; 26: 853-91, https://doi.org/10.1016/S0889-8529(05)70285-1 DOI: https://doi.org/10.1016/S0889-8529(05)70285-1

Vilardel E. Enfermedades de las glándulas suprarrenales. 211 6-21 43p. (En: Farreras. Roznian. Medicina Interna. 13ed. Madrid: Mosley-Doyma Libros. S.A. 1995)

Bondy PK. Disorders of the adrenal cortex. 816-890p. (In: Wilson JD. Foster DW eds. Williams Textbook of Endocrinology. Philadelphia: Saunders. 1985).

White P. Speiser P. Congenital adrenal hyperplasia due to 21-hydros víase deficiency. Endocr Rew 2000: 21:245-291, https://doi.org/10.1210/edrv.21.3.0398 DOI: https://doi.org/10.1210/edrv.21.3.0398

New MI. Antenatal diagnosis and treatment of congenital adrenal hyperplasia. Current Urology Reports 2001,2:11-18, https://doi.org/10.1007/s11934-001-0020-1 DOI: https://doi.org/10.1007/s11934-001-0020-1

Tajima T. et al. Comments: Molecular basis of nonclassical steroid 2 1 -hydroxylase deficiency detected by neonatal mass screening in Japan. J Clin Endocrinol Metab 1997; 82: 2350-2356, https://doi.org/10.1210/jcem.82.7.4094 DOI: https://doi.org/10.1210/jcem.82.7.4094

Pang S , Clark A. Rewiew: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder. Elsevier Science Publishers B.V. Screening 1993: 2:105-139.

Barba, JR. Tamiz Neonatal: Una estrategia en la medicina preventiva. Rev Mex Pato] Clin 2004; 5 1(3):130- 144

Speiser PW y White PC. Medical Progress: Congenital Adrenal Hyperplasia. N Enel J Med 2003: 349:776-88, https://doi.org/10.1056/NEJMra021561 DOI: https://doi.org/10.1056/NEJMra021561

Thenrell Jr BL. et al. Results of screening 1.9 million Texas newborns for 2 1-hydroxylase deficient congenital adrenal hyperplasia. Pediatrics 1998; 101:583-590, https://doi.org/10.1542/peds.101.4.583 DOI: https://doi.org/10.1542/peds.101.4.583

Pang S & Shook MK. Current status of neonatal screening for congenital adrenal hyperplasia. Chit Opin Pediatr 1997; 9:419-423, https://doi.org/10.1097/00008480-199708000-00018 DOI: https://doi.org/10.1097/00008480-199708000-00018

Public Health Laboratories. Washington State Department of Health. The Washington State Newborn Screening Program. Health Care Provider’s Manual. Washington: Washington State Department of Health. Consultado en agosto 2007:

Labaria J, el al. Estado en la edad adulta y propuesta de optimización terapéutica de la hiperplasia adrenal congenita. An Pedíatr 2003; 58: 12-24 American Academy of Pediatrics. Section on Endocrinology and Committee on Genetics. Technical report: congenital adrenal hyperplasia. Pediatrics 20; 106(6): 151 1-8

Velásquez A. et al. Resultados del tamiz neonatal ampliado, como nueva estrategia para la prevención de los defectos al nacimiento. Rev Mex Ped 2000; 67(5);206-13.

Cattanio, A el al. Medición de 173- OH progeslerona sanguínea en recién nacidos chilenos: Antecedentes para irnpl ementar n programa de detección neonatal de hiperplasia adrenal congenita. Rev Med Chile 2000: 128(10): 11 13-1118, https://doi.org/10.4067/S0034-98872000001000006 DOI: https://doi.org/10.4067/S0034-98872000001000006

Pang S, et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Pediatrics 1988: 81:866-74, https://doi.org/10.1016/S0022-5347(17)42164-1 DOI: https://doi.org/10.1016/S0022-5347(17)42164-1

Gruñeiro de Papendieck, L. et al. Congenital adrenal hiperplasia and early newborn screening: 17 alpha -hidroxy progesterone (17 alpha-OHP) during the first days of life. J Med Screen 1998; 5(l):24-26, https://doi.org/10.1136/jms.5.1.24 DOI: https://doi.org/10.1136/jms.5.1.24

Forest. MG. Recent avances in the diagnosis and management of congenital adrenal hyperplasia due to 21 -hidroxvlase deficiency. Hum Reprod Update 2004: 10(6):469-485, https://doi.org/10.1093/humupd/dmh047 DOI: https://doi.org/10.1093/humupd/dmh047

Published

2010-12-31

How to Cite

Armas, K., & Lange, K. (2010). Screening for Congenital Adrenal Hyperplasia in newborns at the Hospital General San Juan de Dios. Revista Científica, 19(2), 75–80. https://doi.org/10.54495/Rev.Cientifica.v19i2.158

Issue

Section

Original Research Papers

Similar Articles

1 2 > >> 

You may also start an advanced similarity search for this article.