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Non-Classical Adrenal Hyperplasia
by Yael Rosenberg, RN
• Description
• Symptoms
• Incidence and Carriers
• Treatment
• Testing
• Resources and More
Description
Non-Classical Adrenal Hyperplasia is an autosomal recessive disease that causes a defect in one of the enzymes in the adrenal cortex responsible for the conversion of cholesterol to cortisol. This is a milder and non life threatening form than the classical adrenal hyperplasia, since it has a lesser deficiency of the enzyme. Unlike CAH there is only a partial enzyme deficiency so symptoms are much less severe.
Symptoms
Affecting both male and female:
• Premature growth of pubic and underarm hair
• Childhood body odor which normally does not smell
• Early and rapid growth spurt in childhood, however as adults thy tend to be short
• Hair and skin tend to be oily
• Serious case of acne
• Mood swings including anxious and depressive moods
• Fertility issues
In Females:
• Early menarche
• Irregular menstrual periods
• Hirsutism (increased growth of hair often especially facial hair)
• Sometimes this disease can be confused with Polycystic Ovarian Syndrome (PCOS) which has similar symptoms
In Males:
• Males tend to be short
• Premature growth of beard
• Disproportionately enlarged penis and small testicles
• Diminished sperm count
There are individuals who are asymptomatic and are tested and diagnosed just because they have relatives with the disorder.
Incidence and Carriers
Carrier Frequency: 1 in 3 in the Ashkenazi Jewish population
Disease Frequency: 1 in 27 in the Ashkenazi Jewish population, 1 in 100 in non-Ashkenazi Jews
The disease is transmitted through heredity. Both parents have to carry the mutated gene for there to be a possibility of transmission to their child.
If both are carriers:
• There is a One in Four chance that the child will inherit the mutated gene from each parent and have the disease
• There is a One in Four chance that the child will inherit normal genes from both parents and be completely free of the disease.
• There is a Two in Four chance the child will inherit one of a mutated gene from one parent and a normal gene from the other parent, and in this case, be a carrier like the parents, but free of the disease.
Treatment
Non-classical Adrenal Hyperplasia symptoms are treatable with very low dose glucocorticoids.
Women that have hirsutism and acne may be treated oral contraceptive which suppress androgen production by the ovaries, instead of glucocorticoids that present with risks and side effects. This treatment is also recommended for better management of menstrual cycles and bleeding. However, those who seek fertility may first be treated with corticoids and then with reproductive assistive meds such as clomid, if the corticoids are deemed to be ineffective.
Treatment is not required for men unless testicular masses are present
Testing
Diagnosis: through blood test done in the morning to test levels of adrenal steroids
Genetic testing: of the 21-hydroxylase gene. In Ashkenazi Jews the test can detect carriers 95% of the time.
Resources and More
CARES Foundation, Inc.
Kelly R. Leight, Executive Director
PO Box 264
Short Hills, NJ 07078
Email: Kelly@caresfoundation.org
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