Mister XX
TLDR Most 46XX CAH patients have female identity, but a few identify as male and may need treatment and surgery.
The document discussed female pseudohermaphroditism, specifically focusing on congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency, which affected over 95% of patients. This condition led to a lack of cortisol, ACTH hypersecretion, and overproduction of androgens, causing virilization and ambiguous genitalia in 46XX newborns. The classical form of CAH manifested in childhood with symptoms like salt-wasting and virilization. Despite the presence of normal female internal reproductive structures, the external genitalia appeared virilized. The document highlighted that only about 5% of 46XX CAH patients identified as male, and treatment involved hydrocortisone to manage cortisol levels and surgical procedures for those with a male identity to improve quality of life.