In which cases should it be done?

• for women with suspected non-classic congenital adrenal hyperplasia (NCAH);
• or with consistently high levels of male sex hormones in the blood.

Congenital adrenal hyperplasia is a group of genetic disorders characterized by a defect in the synthesis of the hormone cortisol due to various gene mutations. This is most often caused by changes in the CYP21A2 gene sequence inherited from healthy parents. Clinical manifestations of the disease are associated with the type of mutations inherited and vary from asymptomatic elevation of androgens (male sex hormones) to severe adrenal insufficiency in newborns with complete virilization of the external genitalia in girls.

Adult women with suspected non-classic congenital adrenal hyperplasia (NCAH) have consistently elevated levels of male sex hormones in the blood, which may affect their chances of getting pregnant. If, when assessing the hormonal profile and performing additional examinations (a Synacthen test), the gynaecologist suspects the possibility of this diagnosis, it should be confirmed with molecular testing.

Molecular testing of the CYP21A2 gene is recommended to confirm the diagnosis and suggest appropriate treatment, as well as to examine the partner when planning pregnancy.

Material:

blood or saliva.

Regulations:

• The test can be taken at the iVF Riga Genetics Centre, Riga, Zaļā Street 1, 2nd floor.
• The test will be completed within 2-4 weeks.
• The results will be sent to you by email encoded.

Registration: +371 67111117 or you can purchase a saliva collection kit remotely at www.ivfriga-online.lv/en