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-hy...

Multiple endocrine neoplasia type 1 is an inherited syndrome that is caused by a germline mutation in the MEN1 gene encoding a tumour-suppressor protein, menin. Currently, no clear genotype–phenotype correlation has been established between clinical forms and MEN1 gene mutations. The aim of the study was clinical characteristics in relation to MEN1 gene mutation in families with MEN1 syndrome treated in our department. To date, genetic testing including complete sequencin...