NEWBORN SCREENING

CONGENITAL ADRENAL HYPERPLASIA (CAH)

[Elevated 17-hydroxyprogesterone (17-OHP)]

Differential Diagnosis: Congenital Adrenal Hyperplasia (CAH), 21-OH deficiency; stress or prematurity are possible secondary causes of increased 17-OH. 

Condition Description: Lack of adequate adrenal cortisol and aldosterone, and increased androgen production. 

MEDICAL EMERGENCY, TAKE THE FOLLOWING ACTIONS:

  • Contact family to inform them of the newborn screening result and ascertain clinical status
  • Consult with pediatric endocrinologist, having the following information available (sex, age at NBS sampling, birth weight) and refer, if needed
  • Examine the newborn (ambiguous genitalia or non palpable testes, lethargy, vomiting, poor feeding)
  • Initiate timely confirmatory/diagnostic testing as recommended by specialist
  • Emergency treatment as indicated (e.g. IV fluids, IM/IV hydrocortisone)
  • Educate family about signs, symptoms and need for urgent treatment of adrenal crisis
  • Report findings to newborn screening program (Carleigh Soule at 307-777-6297) 

Diagnostic Evaluation: Diagnostic tests include serum 17-0HP (increased), serum electrolytes (reduced sodium and increased potassium), and blood glucose (reduced). Additional tests may be recommended by the specialist. 

Clinical Expectations: Ambiguous genitalia in females who may appear to be male with nonpalpable testes. At risk for life threatening adrenal crises, shock, and death in males and females. Finding could also be a false positive associated with stress or prematurity. 

Additional Information: (Click on the name to take you to the website) 

Gene Tests/Gene Clinics                                             Wyoming Department of Health
http://www.genetests.org/                                        http://www.health.wyo.gov  

Cares Foundation                                                       Colorado Newborn Screening http://caresfoundation.org/                                         http://www.cdphe.state.co.us 


Genetics Home Reference 
http://ghr.nlm.nih.gov/  

 

www.acmg.net

 

For Algorithm: http://www.acmg.net/resources/policies/ACT/Visio-NBS_Elevated-17OHP_4-18-06.pdf