title: Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia.
abstract: BACKGROUND
  Patients with congenital adrenal hyperplasia (CAH) often suffer from long-term complications secondary to chronic glucocorticoid therapy and suboptimal treatment regimens.
  
  
  OBJECTIVE
  The aim of the study was to describe clinical characteristics of a large cohort of pediatric and adult CAH patients.
  
  
  METHODS
  We conducted a cross-sectional study of 244 CAH patients [183 classic, 61 nonclassic (NC)] included in a Natural History Study at the National Institutes of Health.
  
  
  METHODS
  Outcome variables of interest were height sd score, obesity, hypertensive blood pressure (BP), insulin resistance, metabolic syndrome, bone mineral density, hirsutism (females), and testicular adrenal rest (TART).
  
  
  RESULTS
  The majority had elevated or suppressed androgens, with varied treatment regimens. Mean adult height SD score was -1.0 ± 1.1 for classic vs. -0.4 ± 0.9 for NC patients (P = 0.015). Obesity was present in approximately one third of patients, across phenotypes. Elevated BP was more common in classic than NC patients (P ≤ 0.01); pediatric hypertensive BP was associated with suppressed plasma renin activity (P = 0.001). Insulin resistance was common in classic children (27%) and adults (38% classic, 20% NC); 18% of adults had metabolic syndrome. The majority (61%) had low vitamin D; 37% of adults had low bone mineral density. Hirsutism was common (32% classic; 59% NC women). TART was found in classic males (33% boys; 44% men).
  
  
  CONCLUSIONS
  Poor hormonal control and adverse outcomes are common in CAH, necessitating new treatments. Routine monitoring of classic children should include measuring BP and plasma renin activity. Osteoporosis prophylaxis and TART screening should begin during childhood. A longitudinal study is under way.
authors.affiliation: Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
authors.forename: Gabriela P
authors.initials: GP
authors.lastname: Finkielstain
authors.forename: Mimi S
authors.initials: MS
authors.lastname: Kim
authors.forename: Ninet
authors.initials: N
authors.lastname: Sinaii
authors.forename: Miki
authors.initials: M
authors.lastname: Nishitani
authors.forename: Carol
authors.initials: C
authors.lastname: Van Ryzin
authors.forename: Suvimol C
authors.initials: SC
authors.lastname: Hill
authors.forename: James C
authors.initials: JC
authors.lastname: Reynolds
authors.forename: Reem M
authors.initials: RM
authors.lastname: Hanna
authors.forename: Deborah P
authors.initials: DP
authors.lastname: Merke
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology* / Q000628:therapy; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002986:Clinical Trials as Topic / Q000706:statistics & numerical data; D015331:Cohort Studies; D015897:Comorbidity; D003430:Cross-Sectional Studies; D018450:Disease Progression; D005260:Female; D005938:Glucocorticoids / Q000009:adverse effects / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D011379:Prognosis; D013997:Time Factors; D014481:United States / Q000453:epidemiology; D055815:Young Adult
chemical_list: D005938:Glucocorticoids