Newborn screening of congenital adrenal hyperplasia

Endocrinol Diabetes Nutr (Engl Ed). 2018 Jan;65(1):1-4. doi: 10.1016/j.endinu.2017.11.001. Epub 2017 Dec 11.

[Article in English, Spanish]

Authors

Elena Dulín Iñiguez¹, Begoña Ezquieta Zubicaray²

Affiliations

¹ Laboratorio de Cribado Neonatal de la Comunidad de Madrid, Hospital General Universitario Gregorio Marañón, Madrid, España. Electronic address: begona.ezquieta@salud.madrid.org.
² Laboratorio de Diagnóstico Molecular, Servicio de Bioquímica, Hospital General Universitario Gregorio Marañón, Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, España.

PMID: 29241677
DOI: 10.1016/j.endinu.2017.11.001

No abstract available

Publication types

Editorial

MeSH terms

Adrenal Hyperplasia, Congenital / complications
Adrenal Hyperplasia, Congenital / diagnosis*
Adrenal Hyperplasia, Congenital / enzymology
Adrenal Hyperplasia, Congenital / genetics
Early Diagnosis
Female
Genes, Recessive
Humans
Hyponatremia / congenital
Hyponatremia / genetics
Infant, Newborn
Male
Neonatal Screening*
Sex Determination Analysis
Steroid 21-Hydroxylase / analysis*
Virilism / congenital
Virilism / genetics

Substances

CYP21A2 protein, human
Steroid 21-Hydroxylase