ESPE Abstracts

Background: Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders caused by defects in one of the several adrenal steroidogenic enzymes. 80–95% of CAH are due to mutations in CYP21A2 gene encoding 21 hydroxylase. Its residual activity defines the clinical form. Except deletions and large gene conversions, nine pseudogene-derived mutations are responsible for 95% of all CAH alleles. The mutational distribution varies between diffe...

Background: Congenital adrenal hyperplasia (CAH) is a group of inborn errors of steroidogenesis. It is mainly caused by steroid 21-hydroxylase coding gene (CYP21A2) mutations. More than 30% of the CYP21A2 mutations are deletions, with ethnic specific differences. The Bulgarian mutational spectrum of CYP21A2 gene is unknown.Objective and hypotheses: To determine CYP21A2 mutation spectrum in Bulgarian CAH patients.<p...

Background: The transcription factor (TF) SOX2 is expressed early in the embryological development and is essential for the development of many structures like neural system, pituitary gland, eyes, ears, esophagus, and gonads. The most common clinical manifestations of mutations in the SOX2 gene are eye abnormalities (anophthalmia/microphthalmia, coloboma, nystagm, and refractive errors) and hypopituitarism (deficiency of gonadotropic, GH, TSH, and ACTH). Molecular genetic stu...

Background: This case underlines the importance of a newborn screening programme combined with genotyping for confirmation and prognosis of disease severity.Objective and hypotheses: Case presentation of a girl with three CYP21A2 mutations.Method: Girl, born from first uneventful pregnancy per vias naturalis. Birthweight 3200 g, birthlenght 50 cm. Intensive jaundice, start at d3, necessitating phototherapy. Discharged from...