
			Screening & Prevention

Screening and Prevention Intro
Developmental Screening
Infant Social-Emotional Screening
Maternal Depression Screening
Newborn Screening
- Amino Acid Disorders
- Endocrine Disorders
  - Congenital adrenal hyperplasia
  - Congenital hypothyroidism
- Fatty Acid Oxidation Disorders
- Galactosemias
  - Galactosemia
- Hemoglobinopathies
  - Sickle cell disease
- Organic Acidemias

Congenital adrenal hyperplasia

Screening

Finding

elevated 17-Hydroxyprogesterone (17-OHP)

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]

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 review, GeneTests.org]

Inheritance

autosomal recessive

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 review, GeneTests.org).

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): Division of Pediatric Endocrinology, (801-581-7761); See also Services below;

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 Management

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

Links

For Professionals

ACT Sheet for Congenital adrenal hyperplasia from ACMG (pdf 67kb)
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.

ACMG ACT Sheets and Confirmatory Algorithms
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, 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.

Congenital adrenal hyperplasia review, GeneTests.org
Excellent review by Maria I New, MD, and Brian Betensky including clinical description, differential, management, genetic counseling, molecular genetics, and a bibliography.

For Parents

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 MedlinePlus site, hosted by 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, UT84114
Phone: 801-584-8256
Fax: 801-536-0966
http://health.utah.gov/newbornscreening

Pediatric Endocrinology

Division of Pediatric Endocrinology, more info...
615 Arapeen Dr., Suite 100
Salt Lake City, UT84108
Phone: 801-581-7761
Fax: 801-587-3920
http://healthcare.utah.edu/utahdiabetescenter/pediatric/endocrinology.html

See all Pediatric Endocrinology services providers (2) in our database.

For other services related to this condition, browse our Services categories or search our database.

Helpful Articles

PubMed search for articles on congenital adrenal hyperplasia in the last 5 years.

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

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