Written by Bernice Sosa-Izquierdo
Before we get into what Congenital Adrenal Hyperplasia (CAH) is, we must first begin to understand what it affects. In order to maintain adequate energy supply and blood sugar levels, and deal with physical and emotional stress, a steroid called cortisol (a hormone necessary for life) needs to be produced by the adrenal glands (located on top of the kidneys). The adrenal glands require an enzyme called 21-hydroxylase in order to produce cortisol. Controlled by the pituitary gland (small pea-sized gland at the base of the brain) the adrenal glands contain a group of genes (identified as chromosome 6 by scientists and researchers) which contain instructions in order for it to produce the 21-hydroxylase enzyme. “Congenital Adrenal Hyperplasia (CAH) is a family of inherited disorders affecting the adrenal glands” (What is Congenital Adrenal Hyperplasia (CAH)?, http://www.caresfoundation.org)
There are two types of CAH. The first called Classical CAH which is usually detected through prenatal testing or diagnosed in early childhood. When the pituitary gland senses there is insufficient cortisol in the bloodstream, it releases a hormone called ACTH (adrenocorticotropic hormone). This, in turn, stimulates the adrenals to produce more cortisol. The enzyme 21-hydroxylase is needed to convert a precursor molecule called 17-hydroxyprogesterone (17-OHP) into cortisol, but those with CAH lack sufficient amounts of 21-hydroxylase causing the pituitary gland to pump out more ACTH when it senses the need for cortisol. The adrenals convert an overabundance of 17-OHP into masculine steroid hormones called androgens. As stated before, adrenal glands are responsible for creating cortisol, in order to maintain adequate energy supply and blood sugar levels, and deal with physical and emotional stress. “Lack of adequate cortisol also prevents the body from properly metabolizing sugar and responding to stress. The lack of this stress response can lead to an adrenal crisis.” (What is Congenital Adrenal Hyperplasia (CAH)?, http://www.caresfoundation.org) Phyllis W. Speiser, MD reports this crisis (or insufficiency) has potentially life-threatening implications. Symptoms in infancy may include: lethargy, vomiting, poor appetite and failure to thrive while symptoms in older children have been noted as: chronic fatigue, headache, gastrointestinal symptoms, salt-craving and excess skin pigmentation. It is important to note that congenital adrenal hyperplasia is only one of many potential causes of adrenal crisis. (Treatment and Monitoring: During Illness and Emergency, http://www.caresfoundation.org) . Classical CAH is often treated with cortisol replacement treatment and may require additional medication Florinef and/or salt tablets indefinitely. If untreated, CAH patients may experience adrenal, testicular or ovarian tumors, as untreated women have excess body hair and fertility difficulties.
The second type of CAH, known as Non-Classical CAH, is far less severe and non-life-threatening. Many individuals diagnosed as non-classical have no obvious symptoms of the mild 21-hydroxylase enzyme deficiency, and can live quite normally without any medical treatment without the danger of an adrenal insufficiency/crisis (Treatment and Monitoring: During Illness and Emergency, http://www.caresfoundation.org). Symptoms may include: early onset of puberty, excessive acne in the teen years, excess facial and/or body hair in young women, irregular menstrual periods, or fertility problems in young adult life. These complaints can be remedied with hormone therapy, usually a low dose of cortisol replacement medication.
Where do we go for support? The Cares Foundation was established in 2000 to form a centralized location for information and networking, while also providing “he non-endocrine medical community needed resources and guidance as well” (Cares Foundation History, http://www.caresfoundation.org). In 2001, the foundation became a non-profit organization under the guidance of founders Kelly and Adam Leight (whose child was diagnosed with non-classical CAH). The foundation is comprised of “a board of trustees and a scientific and medical advisory board focusing on research, education, and support for families and individuals affected by CAH. The organization operated from Kelly’s home with volunteer support, and developed its network of families and professionals to support future growth” (Cares Foundation History, http://www.caresfoundation.org). Between 2001 and 2009, the Leight’s have: created a newsletter and website ( www.caresfoundation.org) for the CAH community; brought newborn screening to the table of other non-profits and advocates of genetic conditions (such as March of Dimes); created lectures and support group meetings; provided “a physician listing was created and made available of pediatric and adult endocrinologists, urologists and psychologists with experience in treating CAH patients as a resource for families around the U.S”, maintained and updated daily; obtained representation on the Newborn Screening Diagnosis and Follow-up Workgroup, Maternal and Child Health Bureau of the federal government; created “a ‘membership database’ to better serve its target populations, distribute the newsletter, mobilize advocacy efforts, communicate important information, track growth, and capture member needs” (Cares Foundation History, http://www.caresfoundation.org). In addition, the foundation has also “obtained representation on the Newborn Screening Diagnosis and Follow-up Workgroup, Maternal and Child Health Bureau of the federal government” and “is a partner in a Weill Medical College of Cornell University clinical trial examining the natural history of genetic steroid disorders” (Cares Foundation History, http://www.caresfoundation.org). The organization holds an Annual Family Conference for members with guests in the medical field providing presentations along with Q&A, and also conducts family support groups facilitated by volunteers.
In their Summer 2010 Newsletter (which can be viewed on their site: http://www.caresfoundation.org) the foundation reported 1 in 40 Latinos are affected by CAH. Patients with CAH or Non-classical CAH are under the care of an Endocrinologist. “Living with CAH requires extra attention to common illnesses and stress inducing situations (injury, exercise, etc.) and very good communication with your Endocrinologist. While sites are intended to provide information, support and education for people and families with CAH, your Endocrinologist must always be your primary source for medical information, and should always be consulted regarding any medical questions.” (Congenital Adrenal Hyperplasia Education and Support Network, http://www.congenitaladrenalhyperplasia.org) Spread the knowledge as we continue to meet the needs of our community.
For more information on CAH, symptoms of CAH, diagnosis and treatments, and support groups, visit:
*Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia, http://www.newchf.org/testing.php
*Encyclopedia of Children’s Health: Congenital Adrenal Hyperplasia, http://www.healthofchildren.com/C/Congenital-Adrenal-Hyperplasia.html
*National Adrenal Diseases Foundation: Adrenal Diseases – Congenital Adrenal Hyperplasia ( CAH )
The Facts You Need To Know, http://www.nadf.us/diseases/cah.htm#classical
* Congenital Adrenal Hyperplasia Education and Support Network: What Is Congenital Adrenal Hyperplasia (CAH)?, http://www.congenitaladrenalhyperplasia.org
*The Cares Foundation, http://www.caresfoundation.org
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