Start Date
2018
Description
The adrenal glands contain a complex enzyme system that modifies cholesterol into glucocorticoids, mineralocorticoids, and sex steroids. Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive diseases that occur when the genes that encode for the enzymes of cortisol biosynthesis are mutated. One example of CAH is 17- hydroxylase deficiency, (17OHD). In 17OHD, Cytochrome P450 17A1 (CYP17A1) is dysfunctional. CYP17A1 is essential for cortisol and sex steroid production; when CYP17A1 is mutated, its reagents divert into mineralocorticoid production. Some classic symptoms of 17OHD include hypertension, hypokalemia, low cortisol levels, and sexual infantilism. The purpose of this study was to characterize the mutation in the CYP17A1 gene of a patient with 17-hydroxylase deficiency.
Recommended Citation
Peterson, Hannah; Tirado, Neikelyn Burgos-; Liu, Jiayan; and Auchus, Richard, "Understanding Genetic Disorders: A Case of 17-Hydroxylase Deficiency" (2018). Summer Research. 13.
https://digitalcommons.calvin.edu/summer_research/2018/Posters/13
Included in
Understanding Genetic Disorders: A Case of 17-Hydroxylase Deficiency
The adrenal glands contain a complex enzyme system that modifies cholesterol into glucocorticoids, mineralocorticoids, and sex steroids. Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive diseases that occur when the genes that encode for the enzymes of cortisol biosynthesis are mutated. One example of CAH is 17- hydroxylase deficiency, (17OHD). In 17OHD, Cytochrome P450 17A1 (CYP17A1) is dysfunctional. CYP17A1 is essential for cortisol and sex steroid production; when CYP17A1 is mutated, its reagents divert into mineralocorticoid production. Some classic symptoms of 17OHD include hypertension, hypokalemia, low cortisol levels, and sexual infantilism. The purpose of this study was to characterize the mutation in the CYP17A1 gene of a patient with 17-hydroxylase deficiency.