Hormonal and geneticanalysisof a patient with congenitaladrenal hyperplasia

We describe a patient with signS and symptoms of viriliza- tion caused by 21 -hydroxylase deficiency. The patient, a Hispanic woman, first sought medical attention at age 24, when she presented to a medical clinic with an uncompli- cated urinary tract infection. At that time several signs of virilization were noted and she was referred to the endo- crinology clinic. Evaluation revealed temporal balding, hy- perpigmentation, acne, absent breast development, a mus- cular habitus, and citoromegaly. Radiological studies revealed bilaterally enlarged adrenal glands and ovaries. Laboratory evaluation revealed markedly increased concen- trations of 17-hydroxyprogesterone, androstenedione, and testosterone. The patient was diagnosed with congenital adrenal hyperplasia (CAH) and received hormone therapy. In her sister, encouraged to undergo testing for this auto- somal recessive disorder, HLA testing demonstrated that certain haplotypes in this family were associated with CAll. The case highlights key steps in the laboratory diagnosis and genetics of CAH.