Flavia please consider that your stepson may have the Simple Virilizing CAH type and NOT Late-Onset (LO) CAH (also called Non-Classical CAH) .

This age - 5 years is a typical age for boys with SVCAH to be diagnosed. SVCAH is also Classical CAH like Salt Wasting is, but has a very small amount of remaining enzyme function eg. somewhere between 2 -7%, which is usually enough to allow aldosterone production and therefore salt preservation.

Of course depending on your child’s hormone levels at diagnosis (these are usually higher in SVCAH than in Late-Onset) and his particular genetic mutations will determine which level of severity he will be assessed as having.

It may seem pedantic to nit pick whether he is SV or LO but it is good to know his level of severity as some things do impinge on it for now and especially for the future. If you are under the (mis)understanding that he is LO then it may not seem significant if he becomes non-compliant with medications in adolescent years. However if he is SV he may develop quite significant adrenal insufficiency without meds or adrenal rest tissue in the testicles thus causing infertility if he does not take his medications.

To read a little more about SV CAH I have cut and pasted a section from the following website.

http://www.answers.com/topic/congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency

"Child Onset (Simple Virilizing) CAH

Mutations that result in some residual 21-hydroxylase activity cause (slightly) milder disease (than SWCAH), traditionally termed simple virilizing CAH (SVCAH). In these children the mineralocorticoid deficiency is insignificant and salt-wasting does not occur. The androgen excess is mild enough that virilization is not apparent or goes unrecognized at birth and in early childhood. However, androgen levels are above normal and slowly rise during childhood, producing noticeable effects between 2 and 9 years of age.

Appearance of pubic hair in mid-childhood is the most common feature that leads to evaluation and diagnosis. Other accompanying features are likely to be tall stature and accelerated bone age (often 3-5 years ahead). Often present are increased muscle mass, acne, and adult body odor. In boys the penis will be enlarged. Mild clitoral enlargement may occur in girls, and sometimes a degree of prenatal virilization is recognized that may have gone unnoticed in infancy.

The principal goals of treatment of simple virilizing CAH are to preserve as much growth as possible and to prevent central precocious puberty if it has not already been triggered. These are more difficult challenges than in CAH detected in infancy because moderately high levels of androgens will have had several years to advance bone maturation and to trigger central puberty before the disease is detected.

A diagnosis of SVCAH is usually confirmed by discovering extreme elevations of 17-hydroxyprogestone along with moderately high testosterone levels. A cosyntropin stimulation test may be needed in mild cases, but usually the random levels are high enough to confirm the diagnosis.

The mainstay of treatment is suppression of adrenal testosterone production by a glucocorticoid such as hydrocortisone. Mineralocorticoid is only added in cases where the plasma renin activity is high.

A third key aspect of management is suppression of central precocious puberty if it has begun. The usual clues to central puberty in boys are that the testes are pubertal in size, or that testosterone remains elevated even when the 17OHP has been reduced toward normal. In girls central puberty is less often a problem, but breast development would be the main clue. Central precocious puberty is suppressed when appropriate by leuprolide.

As outlined above, recent additions to treatment to preserve growth include aromatase inhibition to slow bone maturation by reducing the amount of testosterone converted to estradiol, and use of blockers of estrogen for the same purpose.

Once adrenal suppression has been achieved, the patient needs stress steroid coverage as described above for significant illness of injury."