Congenital adrenal hyperplasia diagnosed in a middle-aged woman.
Short stature, severe hirsutism, an enlarged clitoris and lack of vaginal introitus were manifest in a 55-year-old female karyotype, male phenotype patient brough up as a female. The hormone profile suggested congenital adrenal hyperplasia due to 21-hydroxylase adrenal enzyme deficiency. Follicle-stimulating hormone and luteinizing hormone levels were 122.5 and 100.3 mIU/ml, respectively, within the normal range for a postmenopausal woman. Computerized axial tomography revealed a large cystic tumor connected to the right adrenal gland. Both the right adrenal gland and the cyst were removed. The adrenal cortex showed diffuse hyperplasia and contained a well-defined nodule. The case was interesting because we had the opportunity of examining a patient of advanced age with untreated congenital adrenal hyperplasia and because of the very rare combination of adrenogenital syndrome with nodular hyperplasia and a cystic tumor, which was most probably a degenerated adenoma.
D000311:Adrenal Glands / Q000000981:diagnostic imaging; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000000981:diagnostic imaging; D000315:Adrenalectomy; D000367:Age Factors; D003560:Cysts / Q000473:pathology; D005260:Female; D006801:Humans; D008875:Middle Aged; D010641:Phenotype; D013255:Steroid 21-Hydroxylase; D014057:Tomography, X-Ray Computed
D013255:Steroid 21-Hydroxylase