Introduction
Congenital Adrenal Hyperplasia (CAH) is a rare genetic disorder that affects the adrenal glands, leading to an imbalance in the production of essential hormones. The adrenal glands, located on top of each kidney, are responsible for producing cortisol, aldosterone, and androgens—hormones that are crucial for managing stress, regulating blood pressure, and controlling various metabolic functions. In individuals with CAH, defects in specific enzymes lead to inadequate hormone production, resulting in a range of health issues.
This condition is most commonly diagnosed in newborns through routine screening, which is critical to prevent life-threatening adrenal crises. In Korea, the awareness and management of CAH have significantly improved, with advanced medical facilities and treatments available. Early detection, hormone replacement therapy, and continuous care are essential to help individuals with CAH lead healthy lives. In this article, we will explore the causes, symptoms, and treatment options for CAH, with a focus on its management in Korea.
The Adrenal Glands and Their Role in Hormonal Balance
The adrenal glands are vital organs that play a crucial role in regulating various functions in the body. Each gland is composed of two parts: the cortex (outer layer) and the medulla (inner layer). The cortex produces important hormones such as cortisol, which helps the body respond to stress, and aldosterone, which is essential for regulating salt and water balance, as well as blood pressure. The adrenal cortex also produces androgens, male sex hormones that are important for the development of secondary sexual characteristics.
In CAH, the enzyme responsible for producing one of these hormones (often cortisol) is deficient or absent, leading to an imbalance. This hormonal disruption can result in a variety of symptoms, ranging from metabolic problems to developmental issues. Without proper hormone levels, individuals may experience symptoms such as dehydration, low blood pressure, and in severe cases, an adrenal crisis.
In Korea, medical professionals have a deep understanding of adrenal gland disorders, allowing them to diagnose and manage CAH effectively. Understanding how these glands function is essential for grasping the complexities of CAH and the treatments available.