Endocrine Abstracts

CAH has been described to be associated to infertility and semen abnormalities in 40–70% of adult male patients, because of hypogonodotropic hypogonadism, consequent to the increased levels of sex steroids, but mostly because of the frequent presence of testicular adrenal rest tumors. The aim of the current study was to evaluate semen parameters and hormonal setting in a subset of men with CAH. Fourteen patients with classical CAH due to 21-HD (six with simple virilizing,...

APECED is an autosomal – recessive syndrome defined by two of the following conditions: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) or Addison disease (AD). Other autoimmune endocrine or non-endocrine conditions may be associated, like thyroiditis, celiac disease, alopecia and nail dystrophy. APECED is caused by mutations in the AIRE gene, mapping to 21q22.3. We report here 4 cases with atypical or incomplete presentation, that have been geneti...