title: Testicular adrenal rest tumors develop independently of long-term disease control: a longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency.
abstract: BACKGROUND
  Testicular adrenal rest tumors (TARTs) and hypogonadotropic hypogonadism are the two most common causes for male infertility in classic 21-hydroxylase deficiency. Current hypotheses suggest the quality of disease control to be one of the main pathogenic factors for TART development.
  
  
  OBJECTIVE
  The aim was to study long-term predictors for TART development in a retrospective longitudinal study.
  
  
  METHODS
  Fifty men with classic 21-hydroxylase deficiency (31 salt wasting, 19 simple virilizing) were investigated. Testicular ultrasound at a median age at investigation of 27 years detected TARTs in 28 of 50 subjects (19 salt wasting, 9 simple virilizing). TART presence was correlated with long-term parameters of disease control during childhood and adolescence obtained from patients' charts: 24-hour urine pregnanetriol, serum 17-hydroxyprogesterone, onset and stage of pubic hair development, testicular growth, and bone age in relation to chronological age.
  
  
  RESULTS
  There was no difference in pregnanetriol excretion over lifetime between patients with and without TARTs. Similarly, neither development of pubic hair and testicular volume (Tanner) nor bone age in relation to chronological age differed between the two groups. Furthermore, the two groups had the same body mass index and the same impairment of final height in relation to midparental target height.
  
  
  CONCLUSIONS
  Our longitudinal analysis demonstrates no association between TART presence and parameters of disease control. These data, therefore, argue for other mechanisms more relevant for TART induction including those occurring during fetal development.
authors: MD, Klinikum der Universität München, Ziemssenstrasse 1, D-80336 München, Germany. nicole.reisch@med.uni-muenchen.de.
authors: Nicole
authors: N
authors: Reisch
authors: Marietta
authors: M
authors: Rottenkolber
authors: Anais
authors: A
authors: Greifenstein
authors: Nils
authors: N
authors: Krone
authors: Heinrich
authors: H
authors: Schmidt
authors: Martin
authors: M
authors: Reincke
authors: Hans-Peter
authors: HP
authors: Schwarz
authors: Felix
authors: F
authors: Beuschlein
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000097:blood; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000150:complications* / Q000188:drug therapy*; D000314:Adrenal Rest Tumor / Q000097:blood / Q000000981:diagnostic imaging / Q000209:etiology*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005500:Follow-Up Studies; D005938:Glucocorticoids / Q000627:therapeutic use*; D006801:Humans; D007223:Infant; D007248:Infertility, Male / Q000209:etiology*; D008137:Longitudinal Studies; D008297:Male; D011279:Pregnanetriol / Q000097:blood; D012189:Retrospective Studies; D013736:Testicular Neoplasms / Q000097:blood / Q000000981:diagnostic imaging / Q000209:etiology*; D014463:Ultrasonography
chemical_list: D005938:Glucocorticoids; D011279:Pregnanetriol; D019326:17-alpha-Hydroxyprogesterone