Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: A Review of the Literature
Session Title
Biology and Genetics
College
College of Arts and Sciences
Department
Biology
Abstract
Congenital Adrenal Hyperplasia (CAH) is an inherited disorder due to mutations in coding genes for enzymes involved in the production of adrenal hormones. The term congenital means that the condition is present from birth; however, symptoms and diagnosis may be presented later in life. In CAH patients, the adrenal glands are unable to produce corticosteroids, hormones related to the control of salt and blood glucose levels, blood pressure and body immunity. Low corticosteroid levels cause an imbalance of the brain’s negative feedback mechanism, resulting in continuous stimulation and enlargement of the adrenal glands (hyperplasia). The inability of corticosteroid production triggers the adrenals to shift their anabolic pathway toward increasing the production of sex hormones. As a result, CAH can manifest with a wide range of severities, including various degrees of virilization of female external genitalia. Deficiencies in different enzymes can result in CAH diagnosis. This paper will concentrate on describing clinical, biochemical, and genetic aspects of CAH caused by 21-hydroxylase deficiency. In addition, it will discuss methods of diagnosing and treating the disease to avoid or minimize the development of ambiguous genitalia prior to birth. In conclusion, a call will be made for a more holistic approach to caring for CAH patients, advocating for better parental/community education and psychological support.
Honors Thesis Committee
Silvia Wozniak, Ph.D.; William Rogers, Ph.D.; and Laura Glasscock, Ph.D.
Start Date
12-4-2019 2:45 PM
Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: A Review of the Literature
WEST 219
Congenital Adrenal Hyperplasia (CAH) is an inherited disorder due to mutations in coding genes for enzymes involved in the production of adrenal hormones. The term congenital means that the condition is present from birth; however, symptoms and diagnosis may be presented later in life. In CAH patients, the adrenal glands are unable to produce corticosteroids, hormones related to the control of salt and blood glucose levels, blood pressure and body immunity. Low corticosteroid levels cause an imbalance of the brain’s negative feedback mechanism, resulting in continuous stimulation and enlargement of the adrenal glands (hyperplasia). The inability of corticosteroid production triggers the adrenals to shift their anabolic pathway toward increasing the production of sex hormones. As a result, CAH can manifest with a wide range of severities, including various degrees of virilization of female external genitalia. Deficiencies in different enzymes can result in CAH diagnosis. This paper will concentrate on describing clinical, biochemical, and genetic aspects of CAH caused by 21-hydroxylase deficiency. In addition, it will discuss methods of diagnosing and treating the disease to avoid or minimize the development of ambiguous genitalia prior to birth. In conclusion, a call will be made for a more holistic approach to caring for CAH patients, advocating for better parental/community education and psychological support.
