Adrenogenital Syndrome: Test and Diagnosis

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:

* 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).