MENA 2024 Recordings-Congenital Adrenal Hyperplasia

Video Transcription

Video Summary

The presentation focuses on congenital adrenal hyperplasia (CAH), a genetic disorder affecting cortisol synthesis, primarily caused by 21-hydroxylase deficiency due to C21A2 gene mutations. Approximately 90% of CAH cases feature this deficiency, which has a higher prevalence in areas with a high rate of consanguinity, like Turkey. The presenter outlines the importance of the hypothalamic-pituitary-adrenal axis, which becomes deregulated in CAH, leading to excessive androgen production.<br /><br />Clinical cases illustrate how CAH manifests, including ambiguous genitalia and hormonal imbalances such as elevated ACTH and 17-hydroxyprogesterone levels. Treatment strategies involve glucocorticoid and mineralocorticoid replacement therapy and may include surgeries to correct genital anomalies. Long-term management aims to control symptoms of hyperandrogenism and ensure normal development.<br /><br />The presentation includes dissections of various CAH forms, diagnostic criteria, genetic correlations, and treatment modifications, such as FMODE for improved hormonal control. New therapeutic approaches aim to minimize chronic glucocorticoid exposure. Emphasized is the necessity for early diagnosis through newborn screening programs to prevent adrenal crises. The talk ends by encouraging ongoing research and improvements in treatment strategies for CAH.

Asset Subtitle

Dr. Fatih Gurbuz

Keywords

congenital adrenal hyperplasia

21-hydroxylase deficiency

C21A2 gene mutations

hypothalamic-pituitary-adrenal axis

glucocorticoid therapy

newborn screening

hyperandrogenism