title: Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
abstract: OBJECTIVE
  Conflicting results exist regarding bone mineral density (BMD), metabolism and reproductive function of adult patients with congenital adrenal hyperplasia (CAH). We evaluated the long-term outcome and the impact of chronic glucocorticoid replacement in these patients.
  
  
  METHODS
  Physical characteristics, serum hormone concentrations, BMD and metabolism were studied in 45 consecutive CAH adult patients.
  
  
  RESULTS
  Among the 36 women, only 14 (39%) had regular menses. Among the 27 women with classical CAH, the mean number of surgical reconstructions of virilized genitalia was 2.1 +/- 0.2. Twenty of them (74%) were sexually active. Three men presented with testicular adrenal rest tumors. Twenty-five patients (55%) had decreased BMD at the femoral neck and/or at the lumbar spine. BMI was correlated with the BMD T-score at the femoral neck (p < 0.001) and at the lumbar spine (p < 0.01). Hydrocortisone dose was negatively correlated with the BMD T-score at the femoral neck (p = 0.04). Subjects with osteopenia had a significantly lower BMI and received higher hydrocortisone dose than those with normal BMD. Overweight was found in 21 patients (47%). There was a significantly positive correlation between HOMA and BMI (p < 0.001), and between HOMA and 17-OHP levels (p = 0.016).
  
  
  CONCLUSIONS
  Adult patients with CAH treated with long-term glucocorticoids are at risk for decreased BMD, increased BMI, and disturbed reproductive function.
authors.affiliation: Department of Endocrinology and Reproductive Medicine, Necker Hospital, AP-HP, Paris V University, Paris, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Bachelot
authors.forename: Geneviève
authors.initials: G
authors.lastname: Plu-Bureau
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Thibaud
authors.forename: Kathleen
authors.initials: K
authors.lastname: Laborde
authors.forename: Graziella
authors.initials: G
authors.lastname: Pinto
authors.forename: Dinane
authors.initials: D
authors.lastname: Samara
authors.forename: Claire
authors.initials: C
authors.lastname: Nihoul-Fékété
authors.forename: Frédérique
authors.initials: F
authors.lastname: Kuttenn
authors.forename: Michel
authors.initials: M
authors.lastname: Polak
authors.forename: Philippe
authors.initials: P
authors.lastname: Touraine
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000188:drug therapy* / Q000209:etiology; D000328:Adult; D015519:Bone Density; D001842:Bone and Bones / Q000378:metabolism; D005260:Female; D005938:Glucocorticoids / Q000627:therapeutic use*; D005947:Glucose / Q000378:metabolism; D020249:Hormone Replacement Therapy / Q000009:adverse effects; D006801:Humans; D008134:Long-Term Care; D008297:Male; D009765:Obesity / Q000150:complications / Q000453:epidemiology; D012189:Retrospective Studies; D013255:Steroid 21-Hydroxylase / Q000378:metabolism; D016896:Treatment Outcome
chemical_list: D005938:Glucocorticoids; D013255:Steroid 21-Hydroxylase; D005947:Glucose