Endocrine Abstracts

Objective: The analysis of the copy number variation of CYP21A2 gene in a cohort of 21-hydroxylase deficiency (21-OHD) pediatric patients in a tertiary referral center from Romania.Methods: A total of 24 patients (21 female and 3 male, 7:1 female to male sex ratio) with previously biochemically and clinically diagnosed 21-OHD were enrolled in this study from October 2020 to October 2021. The age at the diagnosis was 4.6±4.8 years (mean&#177...

Introduction: 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder and the diagnosis is confirmed by the presence of at least two biallelic pathogenic variants. The phenotype is determined by the less deleterious variant. The relevance of hormonal assessment to distinguish between heterozygote carriers of pathologic mutations and non-carriers or genetically defined 21OHD patients is still a matter of debate. Identifying the heterozygous genotype is important in...

Male infertility arises as a global public health in the context of the dramatic decrease in birth rates, within a complex picture of hormonal, genetic and epigenetic factors. However, the underlying causes of male infertility remain unknown in many cases. Our study included samples (n = 82, median: 34 years, range 20–55 years) obtained from men investigating couple infertility and from a normal control group (n = 11, median: 29 years, range 21–55 y...