11-beta-hydroxylase-deficient congenital adrenal hyperplasia (11b-OHD CAH) impacts the production of important hormones that leads to excess production of a male sex hormone called androgen.
The ‘classic’ form of 11b-OHD CAH is the most severe and may impact the development of a female newborn’s external genitalia causing it to not be clearly female or male in origin (ambiguous genitalia). Males and females with 11b-OHD-CAH may develop early puberty, exaggerated development of male characteristics (virilization), and infertility. Additionally, many individuals will develop high blood pressure (hypertension) in childhood.
The ‘non-classic’ form of 11b-OHD CAH is less severe and does not lead to ambiguous genitalia in female newborns. While many people with the non-classic form never come to medical attention, others may have shorter than average stature and females may develop abnormal menstruation, masculinization of some features, and infertility.
Both forms of 11b-OHD CAH are treatable and treatments vary depending on the severity of symptoms that an individual presents with.
This condition is caused by pathogenic (disease-causing) variants in the CYP11B1 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Sephardic Jewish descent have a 1 in 40 chance to be a carrier.