17-hydroxyprogesterone from serum (code PREG17) also called 17-OH progesterone, is done in suspected 21-hydroxylase deficiency (adrenogenital syndrome*)
17-hydroxyprogesterone is a hormone that is produced in your adrenal glands and ovaries. It is a building block for cortisol. This hormone accumulates in an AGS based on 21-hydroxylase deficiency and is therefore also used for the heel prick screening for AGS.
Because of strong fluctuations throughout the day and dependence on the cycle, blood should be taken early in the morning (about 8 am) or during the follicular phase (before ovulation).
Test method LC-MS / MS method
*Adrenogenital syndrome (AGS) is a congenital disorder. AGS leads to problems with hormone production in the adrenal cortex . This results in too many androgens (sex hormones), usually too little cortisol and sometimes too little aldosterone. AGS is also called congenital adrenal cortex hyperplasia.
AGS is an inherited disorder. An error (mutation) in the hereditary material (DNA) causes a substance in the adrenal glands to be insufficient or absent. This substance is called an enzyme. 95% of AGS cases involve a deficiency of the enzyme 21-hydroxylase . This enzyme is needed in the adrenal gland to make hormones. The deficiency of the enzyme causes a problem with the production of the hormones cortisol and aldosterone in the adrenal glands. When too little cortisol is made due to the deficiency of the enzyme, the pituitary gland makes a lot of ACTH. The hormone ACTH continues to stimulate the adrenal glands because cortisol production does not increase. This causes the adrenal glands to get bigger ( called hyperplasia) and work even harder. However, because of the enzyme problem, they can only make one type of hormones: androgens. This creates too many androgens. In addition, all kinds of precursors of cortisol and aldosterone are made. The shortage of cortisol and aldosterone and the excess of androgens lead to all kinds of complaints and symptoms. The severity of the clinical picture here depends strongly on the enzyme deficiency. AGS occurs in a severe form (classical AGS) where there is no or hardly any enzyme activity, but also in a milder form (non-classical AGS) with still some enzyme activity of 30-50%. In classical AGS, a distinction is made between the classical form with and without aldosterone deficiency. If there is an aldosterone deficiency it is also called "salt loss".
This disorder is self-limited
:Classical AGS (based on 21 hydroxylase deficiency) occurs in 1 in 10,000-20,000 births. Approximately 15-20 children are born with AGS annually in the Netherlands. Non-classical AGS occurs in 0.1-0.2% of the Dutch population.
The detection of the classical form of AGS is included in the heel prick program. Thanks to the heel prick, classical AGS can be detected quickly. It looks for the amount of 17-hydroxyprogesterone. This is a precursor of cortisol. In AGS, 17-hydroxyprogesterone is elevated.
If non-classical AGS is suspected later in life, this blood test can be done. Then it may look for 17-hydroxyprogesterone, androstenedione and cortisol. Sometimes additional testing is needed. It is also possible to have genetic (DNA) testing done so that AGS can be confirmed.
AGS is not curable, but it is treatable. Treatment focuses on supplementing the deficiency of cortisol and aldosterone and reducing the production of androgens.