1st-order laboratory parameters-obligatory laboratory tests.
21-Hydroxylase deficiency (examination as part of newborn screening).
- 17-OH-progesterone (determination in the morning during the follicular phase).
- Androgens
- DHEA-S [↑]
- Testosterone [↑]
- Cortisol [↓]
- 17α-hydroxyprogesterone [↑* ]
- In AGS with salt wasting:
- Sodium [↓]
- Potassium [↑]
- Metabolic acidosis (metabolic acidosis).
* Nonclassical adrenogenital syndrome (“late-onset” -AGS) and cryptic course can often be diagnosed only by ACTH stimulation test: ACTH administration is followed by a 17α-hydroxyprogesterone increase.
11β- and 17α-hydroxylase deficiency.
- 11-Desoxycorticosterone (DOC) [↑]
Furthermore:
- HLA typing – for the purpose of searching for heterozygous trait strands and genetic counseling.
- Prenatal AGS diagnostics (in case of new pregnancy).
- Determination of 17α-hydroxyprogesterone in amniotic fluid.
- HLA typing of cultured amniotic or chorionic cells.
- Analysis of the 21-hydroxylase gene from chorionic villi.
- Newborn screening – 17α-hydroxyprogesterone elevation?
Laboratory diagnostics during glucocorticoid therapy
- Electrolytes – sodium, potassium
- Plasma renin concentration (setting to the upper normal range).