The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients
Open Access
- 26 August 2020
- journal article
- review article
- Published by MDPI AG in International Journal of Neonatal Screening
- Vol. 6 (3), 68
- https://doi.org/10.3390/ijns6030068
Abstract
Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency is now performed in an increasing number of countries all over the world. The main goal of the screening is to achieve early diagnosis and treatment in order to prevent neonatal salt-crisis and death. The screening laboratory can also play an important role in increasing the general awareness of the disease and act as the source of information and education for clinicians to facilitate improved initial care, ensure prompt and correct glucocorticoid dosing to optimize the long-term outcome for the patients. A National CAH Registry and CYP21A2 genotyping provide valuable information both for evaluating the screening program and the clinical outcome. The Swedish experience is described.Keywords
This publication has 56 references indexed in Scilit:
- Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasiaActa Endocrinologica, 2012
- Health Status of Adults with Congenital Adrenal Hyperplasia: A Cohort Study of 203 PatientsJournal of Clinical Endocrinology & Metabolism, 2010
- Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice GuidelineJournal of Clinical Endocrinology & Metabolism, 2010
- Normal Intelligence in Female and Male Patients with Congenital Adrenal HyperplasiaInternational Journal of Pediatric Endocrinology, 2010
- Stress and the brain: from adaptation to diseaseNature Reviews Neuroscience, 2005
- Female Preponderance in Congenital Adrenal Hyperplasia due to CYP21 Deficiency in England: Implications for Neonatal ScreeningHormone Research in Paediatrics, 2005
- Emotion Circuits in the BrainAnnual Review of Neuroscience, 2000
- Genotyping Is a Valuable Diagnostic Complement to Neonatal Screening for Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase DeficiencyJournal of Clinical Endocrinology & Metabolism, 1999
- Benefits of Neonatal Screening for Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) in SwedenPEDIATRICS, 1998
- General intelligence and cognitive profile in women with congenital adrenal hyperplasia (CAH)Psychoneuroendocrinology, 1994