On-Demand | Evaluation and Management of Congenital Adrenal Hyperplasia-Video: Evaluation and Management of Congenital Adrenal Hyperplasia

Video Transcription

Video Summary

Dr. Shaishav Dhage and Dr. Swag Ganava discuss the management of congenital adrenal hyperplasia (CH), focusing on pathophysiology, types, clinical manifestations, diagnostic investigations, management options, and newer treatments. The adrenal gland plays a critical role, with congenital adrenal hyperplasia stemming from enzyme deficiencies that alter hormone production, diverting pathways to produce excess adrenal androgens. The session covers the management of various CH forms, emphasizing balancing hormone deficiencies with glucocorticoid and mineralocorticoid replacements.<br /><br />Key goals include restoring hormonal balance, minimizing long-term complications, and maintaining normal growth and development in patients. Treatment approaches differ across age groups, from managing adrenal crises in childhood to addressing fertility and quality of life in adults. Specific cases illustrate genetic counseling, the role of enzyme deficiencies, and treatment challenges in both classic and non-classic CH. Innovative therapies and ongoing research into treatments aim to improve hormone control and address complications, prioritizing patient well-being and mental health.<br /><br />In non-classic CH, the focus is on managing symptoms akin to polycystic ovarian syndrome with individualized treatment plans, particularly when fertility is a concern. The discussion also explores the utility of newer therapies like CRH1 receptor antagonists and highlights the potential for gene and cell-based solutions. Throughout, the importance of mental health and holistic patient care is underscored, concluding with a Q&A session that addresses practical management challenges and clinical considerations.

Keywords

congenital adrenal hyperplasia

adrenal gland

hormone production

glucocorticoid replacement

mineralocorticoid replacement

enzyme deficiencies

newer treatments

mental health

fertility

gene therapy


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