title: High frequency of adrenal myelolipomas and testicular adrenal rest tumours in adult Norwegian patients with classical congenital adrenal hyperplasia because of 21-hydroxylase deficiency.
abstract: BACKGROUND
  Increased frequencies of adrenal tumours and testicular adrenal rest tumours (TART) have been reported in patients with 21-hydroxylase deficiency (21OHD).
  
  
  OBJECTIVE
  Patients, methods and design From a cross-sectional population-based study of 101 adult Norwegian patients with 21OHD, sixty-two participated in this study (23 men, 39 women; age range 18-75); thirty-two were salt wasting (SW) and 30 simple virilizing (SV); they were assessed with adrenal computed tomography (CT), testicular ultrasound and hormone measurement in the morning after overnight medication fast.
  
  
  RESULTS
  Nine adrenal tumours were detected in seven (11%) patients (bilateral in 2); four were myelolipomas and one a phaeochromocytoma. Seventeen (27%) had normal adrenal size, whereas 36 (58%) had persisting hyperplasia, and seven (11%) adrenal hypoplasia. Abnormal adrenals were more common in SW than in SV. TART occurred exclusively in SW and was present in seven (57%) of these men. Testicular volumes were small compared with normative data. Morning ACTH and 17-hydroxyprogesterone levels correlated positively with adrenal dimensions and frequency of TART.
  
  
  CONCLUSIONS
  In this unselected population of patients with classical 21OHD, we found high frequencies of adrenal tumours, particularly myelolipomas, and of hyperplasia and hypoplasia, and TART in SW. It is important that physicians are aware that benign adrenal and testicular tumours occur frequently in 21OHD. Furthermore, these findings may reflect inappropriate glucocorticoid therapy, making a case for the advancement of novel physiological treatment modalities.
authors.affiliation: Institute of Clinical Medicine, Akershus University Hospital, University of Oslo, Norway. ingrid.nermoen@ahus.no
authors.forename: Ingrid
authors.initials: I
authors.lastname: Nermoen
authors.forename: Jarle
authors.initials: J
authors.lastname: Rørvik
authors.forename: Stein H
authors.initials: SH
authors.lastname: Holmedal
authors.forename: Dan L
authors.initials: DL
authors.lastname: Hykkerud
authors.forename: Kristian J
authors.initials: KJ
authors.lastname: Fougner
authors.forename: Johan
authors.initials: J
authors.lastname: Svartberg
authors.forename: Eystein S
authors.initials: ES
authors.lastname: Husebye
authors.forename: Kristian
authors.initials: K
authors.lastname: Løvås
mesh_terms: D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000150:complications / Q000453:epidemiology*; D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000453:epidemiology* / Q000235:genetics; D000314:Adrenal Rest Tumor / Q000150:complications / Q000453:epidemiology*; D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018209:Myelolipoma / Q000150:complications / Q000453:epidemiology*; D009664:Norway / Q000453:epidemiology; D015995:Prevalence; D013255:Steroid 21-Hydroxylase / Q000235:genetics; D013736:Testicular Neoplasms / Q000150:complications / Q000453:epidemiology*; D055815:Young Adult
chemical_list: D013255:Steroid 21-Hydroxylase