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Is Congenital Adrenal Hyperplasia Screening Worth It?  

by Katherine Kirk, RN, MSN

Screening for Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency, the most common form of CAH, started in Oklahoma on Valentine’s Day 2005. I was the state’s Coordinator for CAH, a new position, and I was trying desperately to ensure everything was prepared for the first newborns in Oklahoma to be identified at risk for this life-threatening disorder through screening.
 

The page came at 8 a.m. as I was making my way to the office. Only eleven days after launching the Oklahoma newborn screening program for CAH, the first preliminary abnormal screen had been identified. The result was pre-released as a panic value warranting immediate follow-up. Further testing was underway on the newborn’s specimen, but the result was too critical to wait for the results of the second screening test. I wrote down the name Aidan, and hurried to contact the reported primary care doctor about the abnormal screen result.
 

The Oklahoma State Department of Health (OSDH) achieved this milestone for Aidan and other Oklahoma newborns after six years of planning and promotion. The Board of Health (BOH) approved adding CAH to the newborn screening panel after an adequate funding stream was achieved, a requirement of the Oklahoma law that governs newborn screening. In addition to funding obstacles, screening for CAH stirred controversy in the state’s pediatric endocrinology community. The medical community anticipated countless hours ruling out large numbers of false positives, particularly in premature infants. Some also questioned whether newborn screening for CAH was really necessary. For example, females screen results that do not have CAH (i.e., false positives).

These false positives are most often associated with prematurity. It is known that premature infants have elevated levels of 17-OHP (CAH screening involves detecting elevated levels of 17-OHP). However, a diagnostic workup must be done on each abnormal screen result because premature infants might also have CAH. To address this and the concerns of the medical community, the OSDH implemented a two-tierscreening test. The first test, measuring the 17-OHP level, is done by the Public Health Laboratory. If the first test is abnormal, then thenewborn’s specimen is sent to the Mayo Laboratories in Minnesota for a second test. Mayo performs a steroid profile to assist in determining those infants at risk for CAH versus those with elevated 17-OHP values related to

other conditions, such as prematurity. This second-tier test reportedly will dramatically reduce the number of newborns that must undergo further testing for CAH. This is done by utilizing a steroid profile ratio to determine those newborns at risk for CAH. It is thought that false positives are decreased by 70% to 80%. Oklahoma is the second state to use this new technology for CAH screening.
 

Now the time had arrived to act and as the OSDH Coordinator for CAH, I had the responsibility to ensure Aidan received the needed health care services to ensure a timely diagnosis and treatment if needed. When the pediatrician was contacted, Aidan and his mother happened to be in the office waiting to see the doctor.

Despite some medical complications in the first few days of life, he appeared to be a resilient newborn with few outward signs of the potentially fatal path for which his genes were coded. Aidan’s doctor understood the gravity of the screening results and acted promptly.

Within two hours the necessary diagnostic tests to rule-out CAH were completed and mom and baby were on their way to see a specialist. Dr. Kenneth Copeland, M.D., Chief of OU Children’s Pediatric Endocrine Program, was waiting for Aidan’s arrival to ensure all health needs were met to avert a potential life-threatening crisis. Dr. Copeland has years of experience treating children with CAH and was actively involved in the implementation of CAH screening in Oklahoma.
 

Only five hours had elapsed from that 8:00 a.m. page until Aidan’s arrival at the OU Children’s’ Physicians Diabetes Center. His
electrolyte lab results were available and after a physical exam, Dr. Copeland confirmed that Aidan had the beginning clinical signs and symptoms of the most severe form of CAH, classical salt-wasting. Dr. Copeland immediately began steroid treatment and hospitalized Aidan briefly as a cautionary measure. Within 48 hours of diagnosis, Aidan was on his way home, ready to resume his exploration of the new world into which he had arrived just 10 days before.
 

My next responsibility to Aidan is to provide care coordination services to ensure his health care needs are met. This long-term follow-up program is unique when compared to other state screening programs. Over the next few years, assessment of the CAH screening program will require the painstaking gathering of data and the meticulous analysis of cost/benefit ratios and outcome measures assessing health benefits of screening and long term follow-up care coordination services. From a funding standpoint, the scientific data will be critical in determining the program’s success. From the human standpoint, Aidan benefited immediately from the expanded newborn screening program. He will also benefit from the long term follow-up services that will facilitate access to needed services to achieve optimal health throughout childhood.
 

For me, there’s no question of the program’s success. I am privileged to work with Oklahoma’s newborns identified with an abnormal screen for CAH, whether the condition is confirmed or a false positive. After all, what is the value of a human life? This first and unforgettable experience remains foremost in my mind as I consider the question. I have only to look at the face of this bright-eyed little baby and his devoted mother and the answer is clear.

Katherine Kirk is a CARES support group leader and the Endocrine Long Term Follow-up Nurse for CAH in the Oklahoma State Department of Health.

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