- 21 hydroxylase deficiency
- Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- CYP21 deficiency
Your QuestionMy 1-month-old grandson was diagnosed with congenital adrenal hyperplasia, after an abnormal newborn screening result. We were told his condition is due to 21-hydroxylase deficiency and possibly also 17-hydroxyprogesterone. Do you have information on this condition that I could share with my family?
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Questions on this page
- What is 21-hydroxylase-deficiency?
- What is 21-hydroxylase?
- What is 17α-hydroxyprogesterone?
- What are the symptoms of 21-hydroxylase-deficient congenital adrenal hyperplasia?
- What are the symptoms of classical salt wasting 21-hydroxylase-deficient congenital adrenal hyperplasia?
- What are the symptoms of simple virilizing 21-hydroxylase-deficient congenital adrenal hyperplasia?
- What are the symptoms of nonclassical 21-hydroxylase-deficient congenital adrenal hyperplasia?
- What causes salt-wasting, simple virilizing, and nonclassical 21-hydroxylase-deficient congenital adrenal hyperplasia?
- How is 21-hydroxylase-deficient congenital adrenal hyperplasia passed through families?
- Is genetic testing for 21-hydroxylase-deficient congenital adrenal hyperplasia available?
- What is the goal for treating 21-hydroxylase-deficient congenital adrenal hyperplasia?
A close look at the hormone levels in patients with this form of 21-hydroxylase deficiency reveals an increased level of testosterone and rennin, and reduced levels of cortisol and aldosterone. Levels of 17-hydroxyprogesterone is over 5,000 nmol/L.
A close look at hormone levels in patients with simple virilizing 21-hydroxylase deficiency reveal an increased level of testosterone, reduced level of cortisol, normal or increased level of renin, and normal levels of aldosterone. Levels of 17-Hydroxyprogesterone are 2500 to 5000 nmol/L.
People with nonclassical or late-onset 21-hydroxylase-deficient congenital adrenal hyperplasia have 20% to 50% of 21-Hydroxylase activity. They may present in childhood or adulthood with early pubic hair growth or with symptoms of polycystic ovary syndrome. In females symptoms may include excessive hair growth, absent periods, infertility, androgenic alopecia, masculinized genitalia, and acne. Height is likely to be normal.
A close look at the hormone levels in patients with the nonclassical type reveal a variably increased level of testosterone and normal levels of aldosterone, renin, and cortisol. Levels of 17-Hydroxyprogesterone are 500 to 2500 nmol/L.
In late childhood and adolescence, maintaining hormonal balance is equally important. Overtreatment may result in obesity and delayed menarche/puberty, whereas under-replacement will result in sexual precocity. Also, it is important that teens and young adults with 21-hydroxylase deficiency be successfully transitioned to adult care facilities.
Follow-up of adult patients should involve multidisciplinary clinics. Problems in adult women include fertility concerns, excessive hair growth, and menstrual irregularity; obesity and impact of short stature; sexual dysfunction and psychological problems. Counseling may be helpful. Adult males may develop enlargement of the testes and if so, should work with an endocrinologist familiar with the management of patients with this deficiency.
- Stewart PM. The adrenal cortex. In: Kronenberg HM, Melmed S, Polonsky KS, Larsen PR, eds. Kronenberg: Williams Textbook of Endocrinology. 11th ed. Philadelphia, PA: Saunders; 2008..
- Congenital Adrenal Hyperplasia: What It Is and How It's Treated. American Academy of Family Physicians. 2006; http://familydoctor.org/familydoctor/en/diseases-conditions/congenital-adrenal-hyperplasia/treatment.html. Accessed 4/4/2008.
- CYP21A2. Genetics Home Reference. 2006; http://ghr.nlm.nih.gov/gene=cyp21a2. Accessed 4/4/2008.
- If a genetic disorder runs in my family, what are the chances that my children will have the condition?. Genetics Home Reference. http://ghr.nlm.nih.gov/handbook/inheritance/riskassessment. Accessed 4/4/2008.
- New MI, Nimkarn SJ. 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia . GeneReviews. 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cah. Accessed 4/4/2008.