Congenital adrenal hyperplasia (CAH) is a group of inherited disorders that affect the adrenal glands. These disorders disrupt the production of certain hormones normally produced by adrenal glands. The deficiency of these hormones can lead to excessive production of male sex hormones (androgens), which can cause various symptoms in both men and women. Congenital adrenal hyperplasia (CAH) can have specific implications for women’s reproductive and genital health, especially in terms of genital development. In some women and girls with CAH, excessive androgen production can lead to virilization, affecting the development of external genitalia. This condition can cause significant emotional discomfort and impact self-confidence and identity.

Diagnosis of CAH is usually made in early childhood, or even at birth, through newborn screening. Testing involves measuring levels of certain hormones in the blood. Genetic testing may also be useful for confirming the diagnosis and identifying the specific type of CAH.

For women and girls experiencing genital virilization due to CAH, genital reconstructive surgery may be an option to improve both functional and aesthetic aspects of the genitalia. These procedures may include clitoroplasty to reduce clitoral size and labiaplasty to reconstruct the labia minora and/or labia majora.
The goal of these surgical interventions is to restore a standard appearance and function of the genitalia, thereby reducing emotional discomfort and improving quality of life. It is important that these procedures are performed taking into account the desires and needs of the patient, as well as potential long-term consequences on sexual function and fertility.