Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins pediatric Endocrine Society and the European Society for Paediatric Endocrinology

Joint LwPes/esPe CAH working … - The Journal of Clinical …, 2002 - academic.oup.com
Despite over 50 yr of experience with steroid replacement therapy, the management of
congenital adrenal hyperplasia (CAH) remains difficult, and clinical practice varies …

Neonatal screening for congenital adrenal hyperplasia

HJ van der Kamp, JM Wit - European journal of endocrinology, 2004 - academic.oup.com
Congenital adrenal hyperplasia (CAH) is well suited for newborn screening, as it is a
common and potentially fatal disease which can be easily diagnosed by a simple hormonal …

Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants

A Nordenström, A Wedell, L Hagenfeldt… - …, 2001 - publications.aap.org
Objective. Neonatal screening for congenital adrenal hyperplasia (CAH) among preterm
infants is complicated by the fact that healthy preterm infants have higher levels of 17 …

Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management

G Pinto, V Tardy, C Trivin, C Thalassinos… - The Journal of …, 2003 - academic.oup.com
The phenotype of congenital adrenal hyperplasia (CAH) varies greatly. The purpose of this
study was to optimize diagnosis and follow-up by comparing phenotype with genotype. Sixty …

Management of congenital adrenal hyperplasia: results of the ESPE questionnaire

FG Riepe, N Krone, M Viemann, CJ Partsch… - Hormone Research in …, 2002 - karger.com
The management of children and adolescents with congenital adrenal hyperplasia (CAH)
remains difficult. To assess the current European practice in diagnosis and management of …

[PDF][PDF] Neonatal screening for congenital adrenal hyperplasia in Turkey: a pilot study with 38,935 infants

T Güran, B Tezel, F Gürbüz, BS Eklioğlu… - Journal of clinical …, 2019 - jag.journalagent.com
Objective: Congenital adrenal hyperplasia (CAH) is the most common form of primary
adrenal insufficiency in children. Neonatal screening for CAH is effective in detecting the salt …

Female preponderance in congenital adrenal hyperplasia due to CYP21 deficiency in England: implications for neonatal screening

A Nordenström, S Ahmed, J Jones… - Hormone Research in …, 2005 - karger.com
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (CYP21) deficiency causes
symptoms ranging from life-threatening neonatal adrenal crises to minimal virilization in …

The actual incidence of congenital adrenal hyperplasia in Brazil may not be as high as inferred-an estimate based on a public neonatal screening program in the state …

EL Silveira, ΕΡ Santos, TAS Bachega… - Journal of Pediatric …, 2008 - degruyter.com
The incidence of 21-hydroxylase deficiency (CYP21 D) congenital adrenal hyperplasia
(CAH) in Brazil is purportedly one of the highest in the world (1: 7,533). However, this …

[HTML][HTML] A three-year follow-up of congenital adrenal hyperplasia newborn screening

IL Pezzuti, CB Barra, RM Mantovani, JN Januário… - Jornal de …, 2014 - SciELO Brasil
OBJECTIVE: congenital adrenal hyperplasia (CAH) newborn screening can prevent
neonatal mortality in children with the salt-wasting form of the disease and prevent incorrect …

Ten-year evaluation of a neonatal screening program for congenital adrenal hyperplasia

ML Nascimento, ANB Cristiano, T Campos… - … de Endocrinologia & …, 2014 - SciELO Brasil
Objective Evaluate the Neonatal Screening Program (NSP) for congenital adrenal
hyperplasia (CAH) of the Department of Health of the State of Santa Catarina (Secretaria de …