Non-Classical Congenital Adrenal Hyperplasia

Description

First and foremost, we are not doctors. The information relayed here are facts from varied medical resources that are linked to or referenced directly as well as passed on information from our personal doctors.

NCCAH is a common genetic mutation occurring in as many as 1 in 27 women. It perfectly mimics Poly Cystic Ovarian Syndrome (PCOS), however is adrenal based not ovarian which is why it is unresponsive to PCOS medication. Ten percent of patients with PCOS actually have Non-Classical CAH. The  underlying genetic defect causes an enzyme deficiency in the adrenal gland which reduces the ability of the adrenal to make cortisol.  Instead of making cortisol, the adrenal steroid pathways are shunted towards testosterone causing elevated testosterone and the typical symptoms of hair growth (hirsutism), acne, and there may also be menstrual irregularities, anovulation, and infertility. This is a key enzyme in the adrenal gland which converts cholesterol into cortisol.  In the Classical form of CAH, the 21 hydroxylase enzyme (21-OH) is severely deficient with resulting low cortisol levels.  In the Non-Classical form however, the 21 hydroxylase (21-OH) enzyme is still working fairy well with only a slight reduction in activity, and cortisol levels are usually normal, while testosterone levels may be elevated to a variable degree.

Understand…There is a big difference between CAH and NCCAH. CAH can be life threatening even with treatment. NCCAH is not.

Symptoms

You may experience all, some, or none of these symptoms. They are provided as a guide to understanding why it is so easily misdiagnosed as PCOS.

Excessive facial or body hair, cystic acne on face, neck, chin, shoulder, and/or back, continued weight gain that does not respond to diet, skin tabs, red dots on upper arm, cystic ovaries, irregular or non-occurring period, fertility issues, no response to PCOS / IVF meds, low progesterone levels, water retention (Edema) including swollen calves and feet, “buffalo hump” or minor humplike feature at top of shoulders, and raised testosterone levels.

By The Numbers

The mutation is incredibly common amongst certain ethnic groups. The following numbers are based on a study of PCOS patients. It is not unrealistic to think the actual numbers are much higher.

Ashkenazi Jews (Eastern European Jewish) 1 in 27 women
Hispanic/Latino 1 in 40 women
Russian/Yugoslavs 1 in 100 women
Italians/Yupik and Inuit Eskimos 1 in 300
Caucasians 1 in 1000