CONGENITAL ADRENAL HYPERPLASIA
A Parents' Guide
by
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The adrenal glands are part of the body’s endocrine system. The pituitary gland, thyroid gland, pancreas, ovaries, and testicles are also part of the endocrine system.
THE ENDOCRINE SYSTEM
The endocrine system is made up of small organs called “glands.” Glands produce important chemicals called “hormones.” Hormones are directly responsible for delivering instructions from the brain to your cells. Thus, hormones are called “chemical messengers.”
Hormones and Enzymes
Hormones regulate many bodily functions including growth, metabolism, and reproduction. They are made in one part of the body, and then travel through the bloodstream to affect the activity of “target” cells and organs in other parts of the body. In some cases, release of a hormone from one gland will trigger the release of a different hormone from a different gland.
There are more than twenty different steroid hormones produced in the adrenal glands. Each involves different changes to the chemical makeup of cholesterol. These changes are made by cell proteins called “enzymes.”
In people with CAH, an enzyme necessary to convert cholesterol to the hormones cortisol and aldosterone is impaired or defective. As a result, when you have CAH, you cannot properly produce one, or both, of these important adrenal hormones.
The Adrenal Glands
The adrenal glands are small, triangular-shaped structures that sit on top of the kidneys. Each gland consists of two parts.
The outer layer, called the “adrenal cortex,” makes a number of different hormones including cortisol, aldosterone, and androgens. The inner layer, the “adrenal medulla,” makes hormones including “epinephrine” and “norepinephrine.” Epinephrine is commonly known as “adrenaline,” the hormone responsible for the instinct to “fight or flight.”
When you have CAH, there is a problem with the adrenal cortex. However, in some people with CAH, the adrenal medulla is also abnormal.
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About the Book
Congenital Adrenal Hyperplasia (CAH) is an inherited disorder of the adrenal glands. Its effects can be wide-ranging and serious—from problems of ambiguous genitalia in baby girls; to problems with growth and physical development; to problems with infertility and hormone imbalance. When undiagnosed and untreated, CAH can also be life threatening.
Congenital Adrenal Hyperplasia: A Parents’ Guide takes a nuts-and-bolts look at CAH—what this condition is, how it is inherited, and how it is treated and monitored. This new book on CAH written for a lay audience will be welcomed by all patients and parents who, until now, have had few places to turn for in-depth information.
“As parents you will find this book understandable, complete, and comforting in its upbeat approach. Any pediatrician caring for a CAH child will also be well advised to obtain a copy. I wish I had had one sooner.”
—Dr. John D. Crawford, Emeritus Professor, Harvard Medical School
About the Author
C. Y. Hsu is the mother of a child with Congenital Adrenal Hyperplasia. She holds a Bachelor of Science degree from the Massachusetts Institute of Technology in Cambridge, Massachusetts, and a Master of Architecture degree from Harvard University. Ms. Hsu is a licensed Architect who has practiced in Boston, New York, and Williamsburg, Virginia. Currently, she has her own small architecture firm in Connecticut.
Scott A. Rivkees, MD, is Professor of Pediatrics at the Yale University School of Medicine in New Haven, Connecticut, and Director of the Yale Child Health Research Center, a think tank devoted to finding treatments and cures for childhood diseases and illnesses. He is also Associate Chair of Pediatrics for Research, and Chief of the Section of Developmental Endocrinology and Biology at the Yale School of Medicine.