title: Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline.
abstract: OBJECTIVE
  We developed clinical practice guidelines for congenital adrenal hyperplasia (CAH).
  
  
  METHODS
  The Task Force included a chair, selected by The Endocrine Society Clinical Guidelines Subcommittee (CGS), ten additional clinicians experienced in treating CAH, a methodologist, and a medical writer. Additional experts were also consulted. The authors received no corporate funding or remuneration.
  
  
  METHODS
  Consensus was guided by systematic reviews of evidence and discussions. The guidelines were reviewed and approved sequentially by The Endocrine Society's CGS and Clinical Affairs Core Committee, members responding to a web posting, and The Endocrine Society Council. At each stage, the Task Force incorporated changes in response to written comments.
  
  
  CONCLUSIONS
  We recommend universal newborn screening for severe steroid 21-hydroxylase deficiency followed by confirmatory tests. We recommend that prenatal treatment of CAH continue to be regarded as experimental. The diagnosis rests on clinical and hormonal data; genotyping is reserved for equivocal cases and genetic counseling. Glucocorticoid dosage should be minimized to avoid iatrogenic Cushing's syndrome. Mineralocorticoids and, in infants, supplemental sodium are recommended in classic CAH patients. We recommend against the routine use of experimental therapies to promote growth and delay puberty; we suggest patients avoid adrenalectomy. Surgical guidelines emphasize early single-stage genital repair for severely virilized girls, performed by experienced surgeons. Clinicians should consider patients' quality of life, consulting mental health professionals as appropriate. At the transition to adulthood, we recommend monitoring for potential complications of CAH. Finally, we recommend judicious use of medication during pregnancy and in symptomatic patients with nonclassic CAH.
authors.affiliation: Cohen Children's Medical Center of New York and Hofstra University School of Medicine, New Hyde Park, New York 11040, USA.
authors.forename: Phyllis W
authors.initials: PW
authors.lastname: Speiser
authors.forename: Ricardo
authors.initials: R
authors.lastname: Azziz
authors.forename: Laurence S
authors.initials: LS
authors.lastname: Baskin
authors.forename: Lucia
authors.initials: L
authors.lastname: Ghizzoni
authors.forename: Terry W
authors.initials: TW
authors.lastname: Hensle
authors.forename: Deborah P
authors.initials: DP
authors.lastname: Merke
authors.forename: Heino F L
authors.initials: HF
authors.lastname: Meyer-Bahlburg
authors.forename: Walter L
authors.initials: WL
authors.lastname: Miller
authors.forename: Victor M
authors.initials: VM
authors.lastname: Montori
authors.forename: Sharon E
authors.initials: SE
authors.lastname: Oberfield
authors.forename: Martin
authors.initials: M
authors.lastname: Ritzen
authors.forename: Perrin C
authors.initials: PC
authors.lastname: White
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy*; D000465:Algorithms; D015897:Comorbidity; D055317:Evidence-Based Practice; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008954:Models, Biological; D015997:Neonatal Screening; D011247:Pregnancy; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D013255:Steroid 21-Hydroxylase
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