Neonatal 17-hydroxyprogesterone levels adjusted according to age at sample collection and birthweight improve the efficacy of congenital adrenal hyperplasia newborn screening-Reference-Cited by-同舟云学术

Neonatal 17-hydroxyprogesterone levels adjusted according to age at sample collection and birthweight improve the efficacy of congenital adrenal hyperplasia newborn screening

Published:2017-01-23 Issue:4 Volume:86 Page:480-487
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Hayashi Giselle Y.¹²,Carvalho Daniel F.²,de Miranda Mirela C.²,Faure Cláudia¹,Vallejos Carla¹,Brito Vinícius N.²,Rodrigues Andresa De Santi²,Madureira Guiomar²,Mendonca Berenice B.²,Bachega Tânia A.S.S.²

Affiliation:

1. Associação de Pais e Amigos dos Excepcionais de São Paulo - APAE DE SÃO PAULO; São Paulo Brazil

2. Laboratório de Hormônios e Genética Molecular/LIM 42 - Disciplina de Endocrinologia e Metabologia; Hospital das Clínicas; Faculdade de Medicina da Universidade de São Paulo; São Paulo Brazil

Funder

Fundação de Amparo à Pesquisa do Estado de São Paulo

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cen.13292/fullpdf

Reference43 articles.

1. Cutoff levels of 17-alpha-hydroxyprogesterone in neonatal screening for congenital adrenal hyperplasia should be based on gestational age rather than on birth weight;Kamp;Journal of Clinical Endocrinology and Metabolism,2005

2. Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort;Krone;Journal of Clinical Endocrinology and Metabolism,2013

3. Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany;Krone;Journal of Clinical Endocrinology and Metabolism,2000

4. Genetics of congenital adrenal hyperplasia;Krone;Best Practice & Research. Clinical Endocrinology & Metabolism,2009

5. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation;Wedell;Journal of Clinical Endocrinology and Metabolism,1994

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