Home > Newborn Disorders > Congenital adrenal hyperplasia
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.Prevalence
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, and
- hypoglycemia.
Follow-up on positive screening test
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): Utah Newborn Screening Program, (801-584-8256); See also Services below;
- For evaluation and ongoing collaborative management including possible gender assignment issues, consult the following service(s): see all Pediatric Endocrinology services providers (6) 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)
Developed by the American College of Medical Genetics (ACMG), includes recommended responses to positive newborn screening
test results, diagnostic evaluation, clinical expectations, and sources of additional information. See the ACMG ACT Sheets
and Confirmatory Algorithms (link elsewhere on this page) for more info and sheets on other conditions.
ACT Sheets and Confirmatory Algorithms (ACMG)
The American College of Medical Genetics (ACMG) has developed ACTion (ACT) Sheets and algorithms for responding to positive
newborn screening test results. This page contains a table with links to all of the ACT Sheets and related algorithms.
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 (NLM)
Comprehensive compilation of links to information, articles, research, case studies, genetics, and more; from the National
Library of Medicine and the Genetic Alliance.
Congenital adrenal hyperplasia (OMIM)
From the Online Mendelian Inheritance in Man site, hosted by Johns Hopkins University, providing technical information for
providers on genetic disorders, links to MEDLINE, and links to other scientific information and sites.
For Parents and Patients
Congenital adrenal hyperplasia (Genetics Home Reference)
Excellent, detailed review aimed at patients and families from the National Library of Medicine's Genetics Home Reference
site.
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
Newborn Screening Programs
Utah Newborn Screening Program,
more info...
44 Mario Capecchi Drive
Salt Lake City, UT 84114
Phone: 801-584-8256
Fax: 801-536-0966
http://health.utah.gov/newbornscreening
For other services related to this condition, browse our Services categories or search our database.
Authors
| Reviewing Author: | Nicola Longo MD, PhD, 3/2007 |
| Compiled and edited by: | Alfred Romeo RN, PhD, 3/2007 |
| Content Last Updated: | 3/2008 |
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