Often, parents of NCAH children exhibiting signs of early puberty find that their pediatricians do not take their concerns seriously. With so much press given to early puberty lately, many pediatricians take a “wait and see” attitude. Adult physicians may attempt to treat the symptoms, such as putting a woman on oral contraceptives for irregular menses, suggesting laser hair removal for facial hair or accutane for resistant acne.

If you/your child has any of the NCAH symptoms, don’t accept a doctor’s downplaying of their importance. Consider evaluation by an endocrinologist familiar with NCAH. You may also refer your physician to our web site.

Missing the diagnosis of NCAH can have serious consequences. Some common consequences are:

• Inefficient treatment: Treatment may be directed at the symptoms of NCAH rather than the disease itself. For example, acne may be treated for just this symptom, while other damaging effects of NCAH continue unchecked. Also, treating the disease itself is more effective than treating the symptoms alone.
• Early Puberty: Going through puberty at a very young age can be upsetting-even traumatic.
• Hirsutism: Once established, excess hair growth, particularly facial hair in women, is difficult to treat. Thus, early treatment, prior to puberty, can save a young woman from developing this unpleasant symptom.
• Shortened Stature: Bone growth comes to a halt too early in life. As adults, untreated individuals may be shorter in height than they would have been if properly treated. The longer the condition goes untreated, the more potential height is lost. Later treatment can’t bring it back.
• Reduced fertility: Females are prone to menstrual difficulties and symptoms similar to Polycystic Ovarian Syndrome (PCOS). Men may have lowered sperm counts. Fertility often can be restored with a few months of treatment with glucocorticoids rather than the expensive, often physically and emotionally traumatic standard fertility treatments.
• Inability to safeguard the health of the future children of affected individuals: Those with Non-classical CAH may carry a Classical CAH gene mutation and should undergo preconception genetic counseling to assess the risk of giving birth to a child with classical CAH. Siblings and relatives of children affected by NCAH may benefit from testing. Even if they have minimal symptoms, they may be affected. If so, these siblings and relatives may also want to undergo preconception genetic counseling.

A single blood test, drawn in the morning and looking at adrenal steroid levels (17-hydroxyprogesterone, androstenedione and testosterone), may be sufficient to make the diagnosis of CAH. An ACTH stimulation test is done to confirm the diagnosis. A dose of ACTH, or adrenocorticotropic hormone, is given intravenously. Blood samples are taken before the medication is given and again an hour later.

People without CAH respond to ACTH stimulation by releasing cortisol into the bloodstream. In NCAH blood samples taken after the dose of ACTH show large amounts of 17-OHP, the “raw material” from which cortisol is normally made. The results of the ACTH stimulating test are plotted on a “Nomogram”, see Figure at left, to determine whether the values indicate a diagnosis of CAH.

Nomogram for comparing 17-OHP levels before and 60 min after a 0.25 mg iv bolus of cosyntropin in subjects with or without 21-hydroxylase deficiency. Note that the values for normals and heterozygotes (carriers) overlap. DNA testing and certain other hormone tests may also be used to confirm the diagnosis. (From Speiser and White; Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency; Endocrine Reviews 21(3): 245-291; 2000).

In children: The pediatrician can order a bone age – an x-ray of the child’s hand and wrist that will tell whether any high hormone levels are affecting the child’s adult height potential. If the child’s bone age is advanced, then referral to a pediatric endocrinologist would be warranted for further work-up.

Yes, certain ethnic groups are at higher risk for NCAH. Ashkenazi Jews, Italians and Hispanics have higher rates of NCAH than the general population. For Ashkenazi Jews (Jews whose ancestors came from Eastern Europe) the genetic frequency of NCAH is 1 in 27 people. Not everyone genetically affected will exhibit symptoms requiring treatement. Many people live their whole lives with NCAH and never exhibit symptoms that interfere with their quality of life. These individuals have a “cryptic” form of NCAH. Some children with NCAH may be detected in newborn screening. Only those with symptoms of the disorder should consider treatment with glucocorticoids. As many as one-third of all Ashkenazi Jews may carry the recessive gene for NCAH. For Hispanics, the rate of NCAH is 1 in 40 people. In the Italian population, the frequency is 1 in 300. People with these ethnic backgrounds should be especially vigilant for signs of NCAH.