Initial symptoms may include:
- Virilization in female infants (ambiguous genitalia)
- Poor feeding
- Lab findings including:
- Contact the family and evaluate the infant for poor feeding, lethargy, vomiting.
- Provide emergency treatment/referral for symptoms of vomiting or evidence of electrolyte imbalance.
- To confirm the diagnosis, work with the following service(s): we currently have no Newborn Screening Programs service providers listed, please search our Services database for related services.
- For evaluation and ongoing collaborative management including possible gender assignment issues, consult the following service(s): see all Pediatric Endocrinology services providers (14) in our database.
- Educate the family regarding signs and symptoms of salt wasting and adrenal crisis.
- Initiate and support maintenance of glucocorticoid and mineralocorticoid replacement therapy as indicated.
- Electrolytes, hormone levels, and renin should be monitored.
- Urologic evaluation, including a fluoroscopic urogenitogram.
- Surgical intervention for ambiguous genitalia may be recommended.
- For those identified after irreversible consequences, assist in management, particularly with developmental and educational interventions.
ACT Sheet for Congenital Adrenal Hyperplasia (ACMG) ( 348 KB)
Contains short-term recommendations for clinical follow-up of the newborn who has screened positive; American College of Medical Genetics.
Newborn Screening ACT Sheets & Confirmatory Algorithms (ACMG)
ACTion (ACT) Sheets and algorithms for responding to positive newborn screening test results, membership required; American College of Medical Genetics.
Congenital adrenal hyperplasia (GeneReviews)
Excellent review by Saroj Nimkarn, MD and Maria I New, MD, including clinical description, differential, management, genetic counseling, molecular genetics, and a bibliography.
Resources for Congenital Adrenal Hyperplasia (Disease InfoSearch)
Compilation of information, articles, research, case studies, and genetics links; from Genetic Alliance.
Congenital Adrenal Hyperplasia (OMIM)
Extensive review of literature that provides technical information on genetic disorders; Online Mendelian Inheritance in Man site, hosted by Johns Hopkins University.
Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. It includes health supervision guidelines and other useful resources; represents a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.
Congenital Adrenal Hyperplasia (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; U.S. National Library of Medicine.
Congenital adrenal hyperplasia (MedlinePlus)
From the National Library of Medicine and National Institutes of Health, providing access to information about congenital adrenal hyperplasia.
Congenital adrenal hyperplasia Research, Education & Support (CARES) Foundation
This web site provides information for parents and providers; treatment suggestions; links to newsletter articles and research; links to support groups; parent to parent tips; information about conferences; and links to many other sites.
We currently have no Newborn Screening Programs service providers listed; search our Services database for related services.
See all Pediatric Endocrinology services providers (14) in our database.
For other services related to this condition, browse our Services categories or search our database.
|Reviewing Author:||Nicola Longo, MD, PhD - 3/2007|
|Compiled and edited by:||Alfred Romeo, RN, PhD - 3/2007|
|Content Last Updated:||3/2008|
American Academy of Pediatrics.
Newborn screening fact sheets. American Academy of Pediatrics. Committee on Genetics.
Pediatrics. 1996;98(3 Pt 1):473-501. PubMed abstract
Pang S, Shook MK.
Current status of neonatal screening for congenital adrenal hyperplasia.
Curr Opin Pediatr. 1997;9(4):419-23. PubMed abstract