title: Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia.
abstract: OBJECTIVE
  Fertility in males with congenital adrenal hyperplasia (CAH) is reported from normal to severely impaired. Therefore, we investigated fertility/fecundity, social/sexual situation, and pituitary-gonadal function in CAH males.
  
  
  METHODS
  The patient cohort comprised 30 males, aged 19-67 years, with 21-hydroxylase deficiency. Their fertility was compared with age-matched national population data. For the evaluation of social/sexual factors and hormone status, age-matched controls were recruited (n = 32). Subgroups of different ages (<30 years and older) and CYP21A2 genotypes (null (severe salt-wasting (SW)), I2splice (milder SW), and I172N (simple virilizing)) were also studied. Patients underwent testicular ultrasound examination (n = 21) and semen analysis (n = 14).
  
  
  RESULTS
  Fertility was impaired in CAH males compared with national data (0.9 ± 1.3 vs 1.8 ± 0.5 children/father, P<0.001). There were no major differences in social and sexual factors between patients and controls apart from more fecundity problems, particularly in the I172N group. The patients had lower testosterone/estradiol (E(2)) ratio and inhibin B, and higher FSH. The semen samples were pathological in 43% (6/14) of patients and sperm concentration correlated with inhibin B and FSH. Testicular adrenal rest tumors (TARTs) were found in 86% (18/21). Functional testicular volume correlated positively with the testosterone/E(2) ratio, sperm concentration, and inhibin B. Patients with pathological semen had increased fat mass and indications of increased cardiometabolic risk.
  
  
  CONCLUSIONS
  Fertility/fecundity was impaired in CAH males. The frequent occurrence of TARTs resulting in testicular insufficiency appears to be the major cause, but other factors such as elevated fat mass may contribute to a low semen quality.
authors.affiliation: Departments of Endocrinology, Metabolism and Diabetes, D02:04, Karolinska Institute, Karolinska University Hospital, SE-171 76 Stockholm, Sweden. henrik.falhammar@ki.se
authors.forename: Henrik
authors.initials: H
authors.lastname: Falhammar
authors.forename: Helena Filipsson
authors.initials: HF
authors.lastname: Nyström
authors.forename: Urban
authors.initials: U
authors.lastname: Ekström
authors.forename: Seth
authors.initials: S
authors.lastname: Granberg
authors.forename: Anna
authors.initials: A
authors.lastname: Wedell
authors.forename: Marja
authors.initials: M
authors.lastname: Thorén
mesh_terms: D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency; D000312:Adrenal Hyperplasia, Congenital / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000523:psychology; D000314:Adrenal Rest Tumor / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000523:psychology; D000328:Adult; D000367:Age Factors; D000368:Aged; D016022:Case-Control Studies; D015331:Cohort Studies; D006801:Humans; D007248:Infertility, Male / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000523:psychology; D008297:Male; D008875:Middle Aged; D012042:Registries; D019529:Sexuality / Q000502:physiology*; D014463:Ultrasonography
chemical_list: D015096:3-Hydroxysteroid Dehydrogenases