title: Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
abstract: OBJECTIVE
  Lifelong glucocorticoid therapy in patients with congenital adrenal hyperplasia (CAH) or the disease per se may result in increased cardiovascular risk. We therefore investigated cardiovascular and metabolic risk profiles in adult CAH males.
  
  
  METHODS
  We compared CAH males (n = 30), 19-67 years old, with age- and sex-matched controls (n = 32). Subgroups of different ages (< 30 years or older) and CYP21A2 genotypes (null, I2splice, and I172N as the mildest mutation) were studied. Anthropometry, fat and lean mass measured by dual-energy X-ray absorptiometry, lipids, liver function tests, homocysteine, lipoprotein-(a), glucose and insulin during an oral glucose tolerance test (OGTT), urine albumin, adrenal hormones, and 24 h ambulatory blood pressure measurements were studied.
  
  
  RESULTS
  CAH males were shorter. Waist/hip ratio and fat mass were higher in older patients and the I172N group. Heart rate was faster in older patients, the I2splice, and I172N groups. Insulin levels were increased during OGTT in all patients and in the I172N group. γ-glutamyl transpeptidase was increased in older patients and in the I172N group. Testosterone was lower in older patients. Homocysteine was lower in younger patients, which may be cardioprotective. The cardiovascular risk seemed higher with hydrocortisone/cortisone acetate than prednisolone. Urinary epinephrine was lower in all groups of patients except in I172N.
  
  
  CONCLUSIONS
  Indications of increased risk were found in CAH males ≥ 30 years old and in the I172N group. In contrast, younger CAH males did not differ from age-matched controls. This is likely to reflect a better management in recent years.
authors.affiliation: Department of Endocrinology, Metabolism and Diabetes Department of Molecular Medicine and Surgery, Karolinska University Hospital and Karolinska Institutet, SE-171 76 Stockholm, Sweden. henrik.falhammar@ki.se
authors.forename: Henrik
authors.initials: H
authors.lastname: Falhammar
authors.forename: Helena
authors.initials: H
authors.lastname: Filipsson Nyström
authors.forename: Anna
authors.initials: A
authors.lastname: Wedell
authors.forename: Marja
authors.initials: M
authors.lastname: Thorén
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000235:genetics / Q000378:metabolism*; D000328:Adult; D000368:Aged; D001786:Blood Glucose / Q000378:metabolism; D001823:Body Composition; D001827:Body Height / Q000235:genetics; D002318:Cardiovascular Diseases / Q000209:etiology*; D016022:Case-Control Studies; D005838:Genotype; D006801:Humans; D008055:Lipids / Q000097:blood; D008297:Male; D008875:Middle Aged; D012083:Renin / Q000097:blood; D012306:Risk; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D001786:Blood Glucose; D008055:Lipids; D013255:Steroid 21-Hydroxylase; D012083:Renin