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.
16 citations
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September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
July 2017 in “Contemporary Endocrinology” The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
88 citations
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April 2017 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
4 citations
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December 2022 in “Frontiers in Endocrinology” Treating non-classic congenital adrenal hyperplasia is complex because the benefits of hormone treatment must be weighed against potential health risks.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
26 citations
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March 2009 in “Dermato-endocrinology” The document concludes that diagnosing and treating Congenital Adrenal Hyperplasia is complex and requires a team approach due to its effects on the skin and other symptoms.
