Analysis index

1 – 2 ml EDTA blood and declaration of consent

• Suspicion of adrenogenital syndrome (AGS)
• in newborns and children: Pseudo hermaphroditism feminus, clitoris hypertrophy, exsiccosis, precocious puberty
• in adolescent women and adult women: Premature puberty, microsomia, advanced bone age, hirsutism, severe acne, menstrual disorders, amenorrhea
• Desire to have children, if AGS is known in one of the partners’ families

PCR and sequencing of the most common mutations in the 21-hydroxylase gene.

The 21-hydroxylase deficiency is the most common cause of adrenogenital syndrome. The frequency in the central European population is 1:5.000 – 1:15.000. Autosomal recessive inheritance. Different severities have to be distinguished:

The classic AGS leads to virilisation of the female fetus in utero, which can be prevented by administering glucocorticoids (Dexamethasone) during pregnancy. Boys show only minor changes to the genitals as well as slight hyperpigmentation and penis enlargement. This severe form of AGS can be associated with salt-wasting syndrome. The non-classic AGS form (late onset AGS) is also based on a homozygous genotype or compound-heterozygosis, with a much milder course than the classic type but can lead to growth retardation during puberty and precocious puberty. The clinical presentation in girls and women can be very different.

MVZ Dr. Eberhard & Partner Dortmund