Nonclassical CAH (NCAH), is much more common than Classical CAH. A study of New York residents found it affected 1 in 100 people, appearing to be particularly common among those of Jewish, Hispanic and Italian ethnicity. But, perhaps because it is less severe and harder to recognize than the classical form of the disease, NCAH has not received the attention it deserves as a widespread condition that affects health and quality of life.
NCAH is a variation of CAH that:can begin to cause noticeable changes at any time from early childhood to early adulthood;
is not immediately life-threatening; has a range of symptoms which overlap with other disorders and therefore may not be easily diagnosed; is less likely to be diagnosed promptly.
Girls born with NCAH have normal genitals. Boys also appear normal. Because the symptoms begin later in life, NCAH is sometimes called late-onset CAH, adult-onset CAH, or the attenuated form of CAH. Nonclassical CAH does not progress to classical CAH in affected individuals.
NCAH may be picked up in infants through newborn screening tests. They do not necessarily need treatment. Parents can be aware of the symptoms of the disorder and seek treatment if it becomes necessary. Only those children/adults who are symptomatic should be treated. Some with NCAH never experience bothersome symptoms. Those with NCAH who are asymptomatic do not require treatment.
What Are the Symptoms of NCAH?
NCAH symptoms vary from person to person. Also, one person’s symptoms may come and go over time. These symptoms can begin at any time in life and may start in early childhood. These symptoms are often mistaken for premature puberty--girls with signs of puberty before age 8 and boys before age 9. It is progressive, meaning that the untreated symptoms may become worse over time.
Both males and females with NCAH may show the following:
Premature development of body hair (pubic and underarm);
Body odor (young children’s perspiration normally has no odor);
Early, rapid growth spurt, but ultimately short stature as adult (abnormal bone aging, see Figure 5);
Oily hair and skin;
Severe acne;
Anxiety, depression, mood swings, migraines;
Infertility
 |
In females, symptoms most frequently become apparent shortly after the onset of menses and may include the following (as well as those symptoms mentioned above):
Early age of first menstrual period; |
In males, NCAH can also produce the following:
Early beard growth;
Enlarged penis with comparatively small testes;
Low sperm count;
Short stature.
If these symptoms are present, it’s important, especially in children, to consult a board-certified pediatric endocrinologist or adult endocrinologist.
But My Pediatrician Says These Symptoms Are Not a Problem
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. Here are some comments from parents of children with NCAH:
“I was concerned when I noticed my child had body odor at age 5. The doctor didn’t take my worries seriously. This information wasn’t even put into her medical chart.”
“I got the impression the pediatrician was not really listening to my concerns.”
“They shut you down, and say ‘Don’t worry’.”
“When I asked my pediatrician about the pubic hair on my six year old daughter, she said ‘Why are you worrying about a few pubic hairs?’ ”
“Although my pediatrician did run tests at my request that indicated a hormonal imbalance, her first reaction was to underplay my daughter’s symptoms in favor of ‘watchful waiting.’”
If your child has any of the NCAH symptoms, don’t accept a doctor’s downplaying of their importance. Consider evaluation by a pediatric endocrinologist familiar with NCAH. You may also refer your physician to our web site.
Why Hasn’t My Physician Suggested the Possibility of NCAH?
Even when people question their physicians about symptoms, failure to seriously explore the issue is all too common. There are many reasons for this:
NCAH is not well understood by general physicians. Symptoms of NCAH are highly variable, so there is no “typical” case that a doctor can easily recognize.
In children: A widely publicized study suggested recently that the average age of puberty is dropping. Though this study has been disputed, your pediatrician may believe that starting puberty as young as 6 or 7 can be considered “the new norm.” He or she may view it as “merely” a social issue, instead of a medically important sign.
Unlike many inherited diseases, NCAH is not obvious at birth. Physicians may not think in terms of an inherited condition when they see NCAH symptoms appear in an otherwise healthy child.
Physicians have a greater workload nowadays.
What Happens if NCAH is Not Properly Diagnosed and Treated?
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, a child with acne may be treated for just this symptom, while other damaging effects of NCAH continue unchecked. Also, treating the disease itself is more effective that treating the symptoms alone.
Early Puberty: Going through puberty at a very young age can be upsetting-even traumatic.
Hirsutism: Excess hair growth, particularly facial hair in women. Once established it is difficult to treat. Thus, early treatment, prior to puberty, can save a young woman from developing this unpleasant symptom. More on Hirsutism....
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 of 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: Parents who have had one child with CAH or NCAH may have another affected child; also, that child should know that he or she might pass on the gene to a new generation. In addition, those with nonclassical CAH may carry a classical CAH gene mutation. Those with NCAH should undergo preconception genetic counseling to assess the risk of giving birth to a classical CAH child. Siblings and relatives of affected children may benefit from testing if they have minimal symptoms but are actually affected, or may wish to undergo preconception genetic counseling. Multi-Center Study on Non-Classical CAH in Women of Reproductive Age
What Tests Are Used to Diagnose NCAH?
All testing for NCAH should be conducted by a board-certified adult endocrinologist or pediatric endocrinologist.
In many cases, a single blood test, drawn in the morning and looking at adrenal steroid levels, is sufficient to make the diagnosis of CAH. An ACTH stimulation test is often 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 a half-hour and 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 6 below, 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. (From Speiser and White; Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency; Endocrine Reviews 21(3): 245-291; 2000)
DNA testing and certain other hormone tests may also be used to confirm the diagnosis.
ArticleS:
A widespread belief about the onset of puberty in girls is coming under vigorous attack, led by a group of medical specialists who say that it is based on flawed science and that it can have dire medical consequences.
Two professional societies representing endocrinologists have issued a statement saying that despite the conclusion of a widely noted study, it is not yet established that girls typically enter puberty earlier today. The groups urged that girls who appear to be starting sexual development at a young age see a specialist as soon as possible. article
The belief Ñ that girls are now starting puberty as early as age 6 or 7 Ñ began with a single study that critics say has serious problems. The study led some experts to suggest changes in the guidelines used by pediatricians in deciding whether girls whose puberty starts early need to be evaluated by specialists to look for medical problems that might be the cause. article