Congenital Adrenal Hyperplasia (CAH)
Screening
Tested By
Description
- The "classic" form has severe enzyme deficiency and prenatal onset and has two subtypes: simple virilizing and salt wasting. Both types can be life-threatening in infancy due to cortisol deficiency.
- The “non-classic” form is milder and presents later with variable degrees of postnatal androgen excess.
Clinical Characteristics
- Virilization in female infants (ambiguous genitalia)
- Vomiting
- Lethargy
- Poor feeding
- Pallor
- Shock
- Lab findings including:
- Metabolic acidosis
- Hyponatremia
- Hyperkalemia
- Hypoglycemia
Incidence
Primary Care Management
Next Steps After a Positive Screen
- Contact the family immediately and evaluate the infant for poor feeding, lethargy, and vomiting; perform serum electrolytes and 17-OHP.
- Provide emergency treatment/referral for symptoms of vomiting or evidence
of electrolyte imbalance.
- If the infant is ill, regardless of electrolyte results, admit to the hospital for further evaluation and fluid management.
- If the infant appears well and the electrolytes are abnormal, admit to the hospital for further observation and management.
- If the infant appears well and the electrolytes are normal, observe and await the 17-OHP results.
Confirming the Diagnosis
- To confirm the diagnosis of congenital adrenal hyperplasia, work with Newborn Screening Services (see NW providers [1])
- A positive screen is an emergency; the family should be contacted immediately and additional testing performed: serum 17-OHP; serum electrolytes (high potassium, low sodium, low bicarbonate); blood glucose (low).
If the Diagnosis is Confirmed
- Contact Pediatric Endocrinology (see NW providers [1])as soon as possible for assistance with evaluation and ongoing collaborative management, including possible gender assignment issues.
- Further evaluation may include urologic surgery consultation.
- See Endocrine Society Clinical Practice Guideline [Speiser: 2018].
- Educate the family regarding signs and symptoms of salt wasting and adrenal crisis.
- Initiate and support the maintenance of glucocorticoid and mineralocorticoid replacement therapy as indicated.
- Electrolytes, hormone levels, and renin should be monitored as necessary.
Resources
Information & Support
After a Diagnosis or Problem is Identified
Families can face a big change when their baby tests positive for a newborn condition. Find information about A New Diagnosis - You Are Not Alone; Caring for Children with Special Health Care Needs; Assistance in Choosing Providers; Partnering with Healthcare Providers; Top Ten Things to Do After a Diagnosis.
For Professionals
Congenital Adrenal Hyperplasia (GeneReviews)
Detailed information addressing clinical characteristics, diagnosis/testing, management, genetic counseling, and molecular
pathogenesis; from the University of Washington and the National Library of Medicine.
Congenital Adrenal Hyperplasia (OMIM)
Information about clinical features, diagnosis, management, and molecular and population genetics; Online Mendelian Inheritance
in Man, authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
For Parents and Patients
Facts about CAH (NIHCC) (
313 KB)
Patient education material from the National Institutes of Health Clinical Center
Facts about CAH (NIHCC) ( 313 KB)
Patient education material from the National Institutes of Health Clinical Center
Congenital Adrenal Hyperplasia: A Guide for Families (PES) ( 138 KB)
Fact sheet for families from the Pediatric Endocrine Society
21-hydroxylase deficiency (MedlinePlus)
Information for families that includes description, frequency, causes, inheritance, other names, and additional resources;
from the National Library of Medicine.
Congenital Adrenal Hyperplasia Research, Education & Support (CARES) Foundation
Information for parents and providers with treatment suggestions, links to research and support groups, news about conferences,
and parent-to-parent tips.
Tools
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.
Confirmatory Algorithms for Congenital Adrenal Hyperplasia (ACMG) ( 213 KB)
An algorithm of the basic steps involved in determining the final diagnosis of an infant with a positive newborn screen; American
College of Medical Genetics.
Services for Patients & Families Nationwide (NW)
| Service Categories | # of providers* in: | NW | Partner states (6) (show) | | MT | NM | NV | OH | RI | UT | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Newborn Screening Services | 1 | 4 | 1 | 2 | 1 | 2 | 3 | ||||
| Pediatric Endocrinology | 1 | 14 | 1 | 6 | 1 | 13 | 3 | ||||
For services not listed above, browse our Services categories or search our database.
* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.
Studies
I-CAH Registry
The International Congenital Adrenal Hyperplasia Registry, funded by the United Kingdom Medical Research Council, was developed
to support research and improvement in clinical care of patients with congenital adrenal hyperplasia.
Congenital Adrenal Hyperplasia (ClinicalTrials.gov)
Studies looking at better understanding, diagnosing, and treating this condition; from the National Library of Medicine.
Page Bibliography
Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, Meyer-Bahlburg HFL, Miller WL, Murad MH, Oberfield SE, White
PC.
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.
J Clin Endocrinol Metab.
2018;103(11):4043-4088.
PubMed abstract / Full Text
Comprehensive guideline addressing aspects of CAH from newborn screening through long-term management.