Congenital adrenal hyperplasia (CAH) is a medical condition that causes women to exhibit physical characteristics typically associated with men. Let’s explore what CAH is, its symptoms, and how it can be managed.
What is congenital adrenal hyperplasia (CAH)?
Congenital adrenal hyperplasia (CAH) is a genetic disorder affecting the adrenal glands. These glands are unable to produce hormones in the correct amounts, leading to various health issues.
In CAH, genetic mutations disrupt the production of enzymes needed to synthesize cortisol and aldosterone. As a result, the adrenal glands produce excessive amounts of androgens. Androgens are hormones generally more dominant in men. A high level of these hormones in women can cause physical characteristics to become more masculine.
Physical traits in women with congenital adrenal hyperplasia
Women with CAH often exhibit unusual physical traits, either from birth or during growth. Some of these traits include:
Ambiguous genitalia
Some female infants with CAH may be born with genitalia that make it unclear whether it are male or female. This occurs because increased androgen levels affect the development of external genitalia.
Excessive hair growth
Women with CAH may experience excessive hair growth on the face, chest, and back, resembling the hair patterns seen in men.
Deep voice
High levels of androgens can cause a woman’s voice to become deeper and heavier as the vocal cords thicken and stiffen.
Increased muscle mass
Women with CAH might have greater muscle mass compared to typical women. This increase in muscle mass is related to higher androgen levels, as well as changes in body fat distribution.
Irregular or absent menstruation
Excessive androgen production can disrupt ovarian function and menstrual cycles, leading to irregular or absent periods.
Since CAH is a genetic condition, there is currently no complete cure. However, treatment and management can help control symptoms and improve the quality of life. In some cases, surgery may be needed to correct ambiguous genitalia in female infants.
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- Sean Edbert Lim, MBBS
Mayo Clinic (2024). Congenital Adrenal Hyperplasia. Available from: https://www.mayoclinic.org/diseases-conditions/congenital-adrenal-hyperplasia/symptoms-causes/syc-20355205
Cleveland Clinic (2022). Congenital Adrenal Hyperplasia. Available from: https://my.clevelandclinic.org/health/diseases/17817-congenital-adrenal-hyperplasia
John Hopkins Medicine. Congenital Adrenal Hyperplasia. Available from: https://www.hopkinsmedicine.org/health/conditions-and-diseases/congenital-adrenal-hyperplasia
Kemenkes (2023). Hyperplasia Adrenal Kongenital. Available from: https://yankes.kemkes.go.id/view_artikel/2955/hyperplasia-adrenal-kongenital
Cleveland Clinic (2022). Aldosterone. Available from: https://my.clevelandclinic.org/health/articles/24158-aldosterone
Rachel Gurevich, RN (2024). Symptoms of High Androgens in Females and How to Treat It. Available from: https://www.verywellhealth.com/androgens-and-pcos-excess-levels-what-it-means-4156771