Abstract
An 88-yr-old woman presented with a 3x4x5 cm adrenal incidentaloma. Apart from partial cortisol deficiency there were no clinical or laboratory signs of abnormal hormone production. Because of suspicion of carcinoma, a urinary steroid profile was carried out which indicated 21-hydroxylase deficiency with elevated pregnantriol. Biopsy of the tumor showed benign adenoma tissue. The genetic analysis showed two mutations in the CYP21-gene, V281L and I172N consistent with mild non-classic congenital adrenal hyperplasia (CAH). The patient showed a general improvement with a low prednisolone dose. Previous reports have shown increased prevalence of CAH in patients with adrenal tumors although, to our knowledge, no one has reported the combination in a patient as old as in ours. Thus, clinical signs and symptoms of CAH should be looked for in patients with adrenal incidentalomas, even in the very old ones, and if suspicion further diagnostic work-up should be carried out to provide adequate treatment and follow-up.
Similar content being viewed by others
References
Cook DM. Adrenal mass. Endocrinol Metab Clin North Am 1997, 26: 829–52.
Young WF. Management approaches to adrenal inciden-talomas. A view from Rochester, Minnesota. Endocrinol Metab Clin North Am 2000, 29: 159–85.
Jaresch S, Kornely E, Kley HK, Schalaghecke R. Adrenal incidentaloma and patient with homozygous or heterozygous congenital adrenal hyperplasia. J Clin Endocrinol Metab 1992, 74: 658–89.
Speiser PW, White PC. Medical progress congenital adrenal hyperplasia. N Engl J Med 2003, 349: 776–88.
New MI. Basic and clinical aspects of congenital adrenal hyperplasia. J Steroid Biochem 1987, 27: 1–7.
Donohoue PA, Parker K, Migeon C. Congenital adrenal hyperplasia. In: Scriver CR, Beaudet AL, Sly WS, Valk D eds. The metabolic and molecular basis of disease. 7th ed. New York: McGraw-Hill. 1997, 2929–66.
Wedell A, Thilén A, Ritzen E, Stengler B, Luthman H. Mu-tational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab 1994, 78: 1145–52.
Thilén A, Nordenström A, Hagenfeldt L, von Döbeln U, Guthenberg C, Larsson A. Benefits of Neonatal Screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden. Pediatrics 1998, 101: 4–11.
White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000, 21: 245–91.
Stikkelbroeck NM, Suliman HM, Otten BJ, Hermus AR, Blickman JC, Jager GJ. Testicular adrenal rest tumours in postpubertal males with congenital adrenal hyperplasia: sonographic and MR features. Eur Radiol 2003, 13: 1597–603.
Al Ahmadie HA, Stanek J, Liu J, Mangu PN, Niemann T, Young RH. Ovarian ‘Tumor’ of the adrenogenital syndrome: the first reported case. Am J Surg Pathol 2001, 25: 1443–50.
Russo G, Paesano P, Taccagni G, Del Maschio A, Chiumello G. Ovarian adrenal-like tissue in congenital adrenal hyperplasia. N Engl J Med 1998, 339: 853–4.
Selye H, Stone H. Hormonally induced transformation of adrenal into myeloid tissue. Am J Pathol 1950, 26: 211–33.
Baumgartner-Parzer SM, Pauschenwein S, Waldhäusl W, Pölzler K, Nowotny P, Vierhapper H. Increased prevalence of heterozygous 21-OH germline mutations in patients with adrenal incidentalomas. Clin Endocrinol (Oxf) 2002, 56: 811–6.
Beuschlein F, Schulze E, Mora P, et al. Steroid 21-hydroxylase mutations and 21-hydroxylase messenger ribonucleic acid expression in human adrenocortical tumors. J Clin Endocrinol Metab 1998, 83: 2585–8.
Kjellman M, Holst M, Bäckdahl M, Larsson C, Farnebo LO, Wedell A. No overrepresentation of congenital adrenal hyperplasia in patients with adrenocortical tumours. Clin Endocrinol (Oxf) 1999, 50: 343–6.
Axelson M, Sahlberg BL, Sjövall J. Analysis of profiles of conjugated steroids in urine by ion-exchange separation and gas chromatography-mass spectromettry. J Chromatogr 1981, 224: 355–70.
Wedell A, Luthman H. Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutation. Hum Mol Genet 1993, 2: 499–504.
Bülow B, Ahrén B. Adrenal incidentaloma — experience of a standardized diagnostic programme in the Swedish prospective study. J Intern Med 2002, 252: 239–46.
Grondal S, Eriksson B, Hagenas L, Werner S, Curstedt T. Steroid profile in urine: a useful tool in diagnosis and follow up of adrenocortical carcinoma. Acta Endocrinol (Copenh) 1990, 122: 656–63.
Kikuchi E, Yanaihara H, Nakashima J, et al. Urinary steroid profile in adrenocortical tumors. Biomed Pharmacother 2000, 54 (Suppl 1): 194–7.
Bratrud TE, Thompson WH. Congenital hyperplasia of the adrenals. Staff Meet Bull Hosp Univ Minn 1943, 25–32.
Hamwi GJ, Serbin RA, Kruger FA. Does adrenocortical hyperplasia result in adrenocortical carcinoma? N Engl J Med 1957, 257: 1153–7.
Dubey GK, Dotiwalla HH, Choubey BS, Kher A. A case report of virilising adrenal cortical carcinoma. J Assoc Physicians India 1981, 29: 491–3.
Baumann A, Baumann CG. Virilizing adrenocortical carcinoma: development in a patient with salt-loosing congenital adrenal hyperplasia. JAMA 1982, 248: 3140–2.
Jaursch-Hancke C, Allolio B, Metzler U, Bidlingmaier F, Winkelmann W. Adrenocortical carcinoma in patients with untreated congenital adrenal hyperplasia (CAH). Acta En-docrinol (Copenh) 1988, 117 (Suppl): 146–7.
Jääskeläinen J, Levo A, Voutilainen R, Partanen J. Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: good correlation in a well defined population. J Clin Endocrinol Metab 1997, 82: 3293–7.
Moran C, Azziz R, Carmina E, et al. 21-Hydroxylase-deficient nonclassical adrenal hyperplasia is a progressiv disorder; a multicenter study. Am J Obstet Gynecol 2000, 183: 1468–74.
Chrousos GP, Loriaux DL, Sherins RJ, Cutler Jr GB. Unilateral testicular enlargement resulting from inapparent 21-hydroxylase deficiency. J Urol 1981, 126: 127–8.
Augarten A, Weissenberg R, Pariente C, Sack J. Reversible male infertility in late onset congenital adrenal hyperplasia. J Endocrinol Invest 1991, 14: 237–40.
Ravichandran R, Lafferty F, McGinniss MJ, Taylor HC. Congenital adrenal hyperplasia presenting as massive adrenal incidentalomas in the sixth decade of life: report of two patients with 21-hydroxylase deficiency. J Clin Endocrinol Metab 1996, 81: 1776–79.
Abo K, Sumino K, Nishio H, et al. 21-Hydroxylase deficiency presenting as massive bilateral adrenal masses in the seventh decade of life. Endocr J 1999, 46: 817–23.
Giacaglia LR, Mendonca BB, Madureira G, et al. Adrenal nodules in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: regression after adequate hormonal control. J Pediatr Endocrinol Metab 2001, 14: 415–9.
Knochenhauer ES, Cortet-Rudelli C, Cunnigham RD, Con-way-Myers BA, Dewailly D, Azziz R. Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism. J Clin Endocrinol Metab 1997, 82: 479–85.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Falhammar, H., Thorén, M. An 88-year-old woman diagnosed with adrenal tumor and congenital adrenal hyperplasia: Connection or coincidence?. J Endocrinol Invest 28, 449–453 (2005). https://doi.org/10.1007/BF03347226
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF03347226