Article information
Se presenta el caso de un recién nacido con hiperplasia suprarrenal congénita y aumento de la translucencia nucal fetal. También se describen las posibles interferencias que pueden encontrarse en las determinaciones hormonales cuando los valores de la misma superan ampliamente el rango habitual de los ensayos.
Palabras clave:
Hiperplasia
suprarrenal congénita
Edema nucal
Translucencia nucal
17-hidroxiprogesterona
A neonate with increased nuchal translucency and congenital adrenal hyperplasia is described. The possible interferences in hormone assays when values are much higher than the average assay range are also discussed.
Key words:
Congenital adrenal hyperplasia
Nuchal edema
Nuchal
17-hydroxyprogesterone
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Bibliografía
[1.]
S. Pang, M.A. Wallace, L. Hofman, H.C. Thuline, C. Dorche, I.C.T. Lyon.
Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxilase deficiency.
Pediatrics, 81 (1988), pp. 866-874
[2.]
B. Masturzo, J.A. Hyett, K.D. Kalache, G. Rumsby, E. Jauniaux, C.H. Rodeck.
Increased nuchal translucency as a prenatal manifestation of congenital adrenal hyperplasia.
Prenat Diagn, 21 (2001), pp. 314-316
[3.]
R.J. Snijders, P. Noble, N. Sebire, A. Souka, K.H. Nicolaides.
UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestacion.
Ultrasound Obstet Gynecol, 11 (1998), pp. 391-400
[4.]
A.P. Souka, E. Krampl, S. Bakalis, V. Heath, K.H. Nicolaides.
Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet.
Gynecol, 18 (2001), pp. 9-17
[5.]
B.A. Boston, C. DeGroff, C.E. Hanna, M. Reller.
Reversible cardiomiopathy in an infant with unrecognized congenital adrenal hyperplasia.
J Pediatr, 124 (1994), pp. 936-938
[6.]
J.W. Honour, C.G. Brook.
Clinical indications for the use of urinary steroid profiles in neonates and children.
Ann Clin Biochem, 34 (1997), pp. 45-54
[7.]
A. Oliver, B. Oliver, M. Gussinyé.
Hiperplasia suprarrenal congénita.
Tratado de Endocrinología Pediátrica y de la adolescencia, 2.a, pp. 995-1042
[8.]
M.G. Forest, L. Castro-Feijoo.
Hiperplasia suprarrenal congénita.
Tratado de Endocrinología Pediátrica, 3.ed, pp. 970-1005
Copyright © 2003. Asociación Española de Pediatría
