Endocrine Abstracts

Mutations of the DAX-1 gene cause X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. Two half brothers (same mother, different fathers) were diagnosed as having Addison's aged14 years (brother A) and 7 years (brother B). Their mother had haemochromatosis being homozygous for the Cys 282 Tyr mutation of the HFE gene. Both had delayed pubertal development but defaulted from follow up. Brother A re-presented at 29 years of age with infertility. In view of t...

Background: There is uncertainty as to whether glucocorticoid receptor (GCR) polymorphisms play a role in the development of glucocorticoid-related side-effects in individuals receiving hydrocortisone replacement for Addison’s disease.Method: One-hundred-and-forty-seven Addison’s patients were age, gender, ethnicity and body mass index (BMI) matched with 147 control subjects. Genotyping was performed using polymerase chain reaction (PCR) for th...