A group of related genetic variations that affect the enzymes allowing the adrenal glands to produce specific hormones regulating body functions. People with CAH do not consistently produce the required amounts of cortisol (stress/sickness response), aldosterone (potassium/sodium regulation), or both, and may naturally produce higher-than-typical levels of androgens like testosterone to compensate.
People with XX chromosomes and CAH can have increased androgen production resulting in genital differences noticeable at birth, including a larger-than-typical clitoris, fused labia, and a single opening for the urethra and vaginal canal. They may also develop characteristics like body and facial hair or increased muscle mass during childhood or puberty. People with XY chromosomes and CAH are usually not considered to have a variation in sex characteristics, as increased androgens do not cause characteristics atypical for people assigned male at birth.
