Endocrine Abstracts

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...