CONGENITAL ADRENAL HYPERPLASIA CAH

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CONGENITAL ADRENAL HYPERPLASIA (CAH)

• VIRGINIA NEWBORN SCREENING PROGRAM
• Sharon K. Williams, RN, MS

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OBJECTIVESAt the conclusion of this session,
the participants will be able to

• Articulate a basic definition of CAH
• Identify two key completion items for CAH on the
  filter paper collection tool, and
• Identify the Va. Newborn Screenings Regional CAH
  physician consultant for the participants area
  of the state.

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DEFINITION

• Congenital Adrenal Hyperplasia (CAH) is a family
  of inherited diseases that are present at birth.
  CAH occurs when a babys body can not produce the
  essential hormones, cortisol and aldosterone.

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DEFINITION (cont.)

• These hormones are needed for the body to
• - maintain blood sugar levels
• - retain sodium for electrolyte balance
• - for normal growth and development.
• Without early identification and treatment,
  affected infants are at risk for early death or
  long term health consequences.

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NATIONAL INCIDENCE

• 110,000 - 115,000 live births
• Noted to be higher in some ethnic groups

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RATIONAL FOR SCREENING

• Identification and early treatment prevent
  complications seen in undiagnosed newborns.
• - incorrect sex assignment
• - adrenal crisis
• - possible death

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COMPONENTS OF EFFECTIVE CAH SCREENING

• Early sample collection, ideally between day 2
  and day 3 of life
• Immediate and reliable analysis of 17-
  hydroxyprogesterone (17-OHP) levels after
  sample collection
• Clearly identified cutoff levels to distinguish
  affected from unaffected newborns

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COMPONENTS OF EFFECTIVE CAH SCREENING (cont.)

• Immediate and clear communication of presumptive
  positive results to the appropriate health care
  professional
• Diagnostic confirmation of newborns with positive
  screening results.

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REGIONAL CONSULTANTS FOR CAH

• CENTRAL REGION NORTHERN REGION
• Anil Kumar, MD Val Abassi, MD
• Medical College of VA Georgetown University
  Hosp.
• Richmond, VA Washington, DC
• Phone [phone] Phone [phone]
• Fax [phone] Fax [phone]

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REGIONAL CONSULTANTS FOR CAH(cont.)

• EASTERN REGION WESTERN REGION
• Reuben Rohn, MD William Clark, MD
• C. H. K. D. UVA Medical Center
• Norfolk, VA Charlottesville, VA
• Phone [phone] Phone [phone]
• Fax [phone] Fax [phone]

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TYPES OF CAHCLASSIC-

• A deficiency in the enzyme needed for the
  synthesis of both cortisol and aldosterone
• Cortisol is responsible for blood glucose
  regulation and is key in the bodys adaptation to
  stressful situations
• Aldosterone is necessary for the body to regulate
  sodium levels
  70 of
  children have the salt-wasting form
  
  30 have the simple virilizing form

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TYPES OF CAHCLASSIC- (cont.)

• Most of these infants are predisposed to
  dehydration, shock and even death
• Adrenals produce androgen, causing abnormal
  growth of female genitals in utero
• Female infants require surgery to correct
  genital-urinary structures

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TYPES OF CAHNONCLASSIC-

• A milder form of CAH
• Non-life threatening
• May not manifest until childhood or even early
  young adulthood
• Usually a partial deficiency, with some
  production of cortisol and aldosterone

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SCREENING

• Screening measures the level of 17-OHP in the
  dried filter paper blood spot. Affected infants
  have higher levels. Normal and above normal
  levels have been established by the Division of
  Consolidated Laboratories

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SCREENING RESULTSFALSE POSITIVE RESULTS MAY
OCCUR

• prematurity
• low birth weight
• illness
• screening lt 24 hours

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AVOID FALSE POSITIVE RESULTS

• No NBS until gt 24 hours of age
• Clearly identify low birth weight or preterm
  infants on collection tool (filter paper)
• Clearly record infant weight on collection tool,
  results are determined according to norms for
  gestation and weight.

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ITS A PARTNERSHIP

• Hospital staff
• NBS laboratory staff
• NBS follow-up staff
• Primary Care Providers
• Pediatric specialist
• Parents