Endocrine Abstracts

Classical form of congenital adrenal hyperplasia (CAH) is associated with the impairment of enzymes involved in process of adrenal steroidogenesis. More than 90% of CAH cases are connected with mutations in the 21-hydroxylase gene CYP21A2 in the HLA class III area on the short arm of chromosome 6p21.3. CAH is characterized by a strong correlation between the genotype and the phenotype. Mutations in the CYP21A2 gene can cause different degrees of loss of 21-hydroxylase enzyme activity resulting in various clinical characteristics.

Fifty patients (31 females and 19 males) with classical form of CAH were involved in the study (43 with salt wasting form and seven with simple virilization). Patients anthropometric, hormonal and metabolic data were assessed. In females history of reconstructive gynecologic surgery and fertility aspects were also assessed. In 31 patients genetic analysis using MLPA with use of probemix SALSA MLPA P050 CAH from MRCHolland was performed.

The average height in group of females was 155,36 cm and 179 cm in males respectively. Median woman’s BMI was 28.18, while in case of man-24.26. The average concentration of serum fasting glucose was 4.97 mmol/l and of total cholesterol 4.96 mmol/l. The average age of menarche was 14 years, but almost all women had different menstrual abnormalities. Seventeen females underwent reconstructive gynecologic surgery. Fourteen different types of genetic changes were found in thirty one patients, who had genetic testing. In six patients were found changes only in one allele and in one female patient no changes in both alleles of CYP21A2 gene.

Genetic defects are well correlated with the phenotypes of classical form of CAH. Further studies are required to search for new genetic disorders which may be responsible for development of CAH.