Congenital Adrenal Hyperplasia
Screening
Tested By
Fluoroimmunoassay (high sensitivity, low specificity); with positives then tested by tandem mass spectrometry (low sensitivity, specificity: 99.5 to 99.8%) [American: 1996]Overview
Caused by a group of inherited disorders of biosynthesis of cortisol and aldosterone. 21-hydroxylase deficiency accounts for roughly 90% of CAH. "Classic" form has severe enzyme deficiency and prenatal onset, while nonclassic has moderate enzyme deficiency and later onset. Within the classic form are two types: simple virilizing (apparent in females and comprising approximately 25% of affected individuals) and salt wasting (>75%). Individuals with the nonclassic form present postnatally with evidence of hyperandrogenism and females are not virilized at birth. Most of those affected with the nonclassic form will be detected by newborn screening.Incidence
Prevalence is about 1:15,000 live births [Pang: 1997]; 1:5,000 in Saudi Arabi; 1:21,000 in Japan; 1:23,000 in New Zealand. (Congenital adrenal hyperplasia (GeneReviews))Prenatal Testing
Use of molecular genetic testing, CVS testing, or DNA analysis varies by trimester. Prenatal therapy with dexamethasone can reduce female virilization (see Congenital adrenal hyperplasia (GeneReviews)).Clinical Characteristics
With treatment with gluco- and mineralocorticoid replacement, good prognosis and near-normal growth and life expectancy should result. Surgical management of virilization may be indicated in females. Without treatment, life-threatening salt-wasting crises may occur, even before the results of newborn screening are reported; hypoglycemia may also occur with stress.Initial symptoms may include:
- Virilization in female infants (ambiguous genitalia)
- Vomiting
- Lethargy
- Poor feeding
- Pallor
- Shock
- Lab findings including:
- Acidosis
- Hyponatremia
- Hyperkalemia
- Hypoglycemia
Follow-up Testing after Positive Screen
Serum 17-OHP; serum electrolytes (high potassium, low sodium, low bicarbonate); blood glucose (low)Primary Care Management
Upon Notification of the + Screen
- 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 (1) in our database.
If the Diagnosis is Confirmed
- 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.
Specialty Care Collaboration
Initial consultation and ongoing collaboration with the Endocrine Clinic for management and monitoring of replacement therapy, growth, and puberty. Pediatric urology may be involved for the virilized female, as well as psychology. Genetic counseling for the family.Resources
Information & Support
For Professionals
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 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)
Contains health supervision guidelines and other useful resources for the care of children with genetic disorders; American
Academy of Pediatrics.
For Parents and Patients
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.
Services Nationwide
Newborn Screening Programs
We currently have no nationwide Newborn Screening Programs service providers listed; search our Services database for related services or, if relevant for you, a state link above.
For other services related to this condition, browse our Services categories or search our database.
Page Bibliography
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