HORMONAL AND GENETIC-ANALYSIS OF A PATIENT WITH CONGENITAL ADRENAL-HYPERPLASIA

We describe a patient with signs and symptoms of virilization caused b y 21-hydroxylase deficiency, The patient, a Hispanic woman, first soug ht medical attention at age 24, when she presented to a medical clinic with an uncomplicated urinary tract infection, At that time several s igns of virilization were noted and she was referred to the endocrinol ogy clinic. Evaluation revealed temporal balding, hyperpigmentation, a cne, absent breast development, a muscular habitus, and clitoromegaly. Radiological studies revealed bilaterally enlarged adrenal glands and ovaries, Laboratory evaluation revealed markedly increased concentrat ions of 17-hydroxyprogesterone, androstenedione, and testosterone. The patient was diagnosed with congenital adrenal hyperplasia (CAH) and r eceived hormone therapy. In her sister, encouraged to undergo testing for this autosomal recessive disorder, HLA testing demonstrated that c ertain haplotypes in this family mere associated with CAH, The case hi ghlights key steps in the laboratory diagnosis and genetics of CAH.