Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency

An Endocrine Society clinical practice guideline

Phyllis W. Speiser, Ricardo Azziz, Laurence S. Baskin, Lucia Ghizzoni, Terry W. Hensle, Deborah P. Merke, Heino F L Meyer-Bahlburg, Walter L. Miller, Victor M. Montori, Sharon E. Oberfield, Martin Ritzen, Perrin C. White

Research output: Contribution to journalArticle

640 Citations (Scopus)

Abstract

Objective: We developed clinical practice guidelines for congenital adrenal hyperplasia (CAH). Participants: 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. Consensus Process: 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 webposting, 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 regardedas 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.

Original languageEnglish (US)
Pages (from-to)4133-4160
Number of pages28
JournalJournal of Clinical Endocrinology and Metabolism
Volume95
Issue number9
DOIs
StatePublished - 2010

Fingerprint

Steroid 21-Hydroxylase
Congenital Adrenal Hyperplasia
Mineralocorticoids
Practice Guidelines
Glucocorticoids
Screening
Repair
Sodium
Health
Monitoring
Guidelines
Advisory Committees
Consensus
Committee Membership
Remuneration
Investigational Therapies
Cushing Syndrome
Adrenalectomy
Genetic Counseling
Puberty

ASJC Scopus subject areas

  • Biochemistry, medical
  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Clinical Biochemistry
  • Endocrinology
  • Medicine(all)

Cite this

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency : An Endocrine Society clinical practice guideline. / Speiser, Phyllis W.; Azziz, Ricardo; Baskin, Laurence S.; Ghizzoni, Lucia; Hensle, Terry W.; Merke, Deborah P.; Meyer-Bahlburg, Heino F L; Miller, Walter L.; Montori, Victor M.; Oberfield, Sharon E.; Ritzen, Martin; White, Perrin C.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 95, No. 9, 2010, p. 4133-4160.

Research output: Contribution to journalArticle

Speiser, PW, Azziz, R, Baskin, LS, Ghizzoni, L, Hensle, TW, Merke, DP, Meyer-Bahlburg, HFL, Miller, WL, Montori, VM, Oberfield, SE, Ritzen, M & White, PC 2010, 'Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: An Endocrine Society clinical practice guideline', Journal of Clinical Endocrinology and Metabolism, vol. 95, no. 9, pp. 4133-4160. https://doi.org/10.1210/jc.2009-2631
Speiser, Phyllis W. ; Azziz, Ricardo ; Baskin, Laurence S. ; Ghizzoni, Lucia ; Hensle, Terry W. ; Merke, Deborah P. ; Meyer-Bahlburg, Heino F L ; Miller, Walter L. ; Montori, Victor M. ; Oberfield, Sharon E. ; Ritzen, Martin ; White, Perrin C. / Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency : An Endocrine Society clinical practice guideline. In: Journal of Clinical Endocrinology and Metabolism. 2010 ; Vol. 95, No. 9. pp. 4133-4160.
@article{f88dbcafd4a64d6a9687b8696609734c,
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). Participants: 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. Consensus Process: 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 webposting, 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 regardedas 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.",
author = "Speiser, {Phyllis W.} and Ricardo Azziz and Baskin, {Laurence S.} and Lucia Ghizzoni and Hensle, {Terry W.} and Merke, {Deborah P.} and Meyer-Bahlburg, {Heino F L} and Miller, {Walter L.} and Montori, {Victor M.} and Oberfield, {Sharon E.} and Martin Ritzen and White, {Perrin C.}",
year = "2010",
doi = "10.1210/jc.2009-2631",
language = "English (US)",
volume = "95",
pages = "4133--4160",
journal = "Journal of Clinical Endocrinology and Metabolism",
issn = "0021-972X",
publisher = "The Endocrine Society",
number = "9",

}

TY - JOUR

T1 - Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency

T2 - An Endocrine Society clinical practice guideline

AU - Speiser, Phyllis W.

AU - Azziz, Ricardo

AU - Baskin, Laurence S.

AU - Ghizzoni, Lucia

AU - Hensle, Terry W.

AU - Merke, Deborah P.

AU - Meyer-Bahlburg, Heino F L

AU - Miller, Walter L.

AU - Montori, Victor M.

AU - Oberfield, Sharon E.

AU - Ritzen, Martin

AU - White, Perrin C.

PY - 2010

Y1 - 2010

N2 - Objective: We developed clinical practice guidelines for congenital adrenal hyperplasia (CAH). Participants: 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. Consensus Process: 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 webposting, 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 regardedas 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.

AB - Objective: We developed clinical practice guidelines for congenital adrenal hyperplasia (CAH). Participants: 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. Consensus Process: 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 webposting, 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 regardedas 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.

UR - http://www.scopus.com/inward/record.url?scp=77956588420&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77956588420&partnerID=8YFLogxK

U2 - 10.1210/jc.2009-2631

DO - 10.1210/jc.2009-2631

M3 - Article

VL - 95

SP - 4133

EP - 4160

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

SN - 0021-972X

IS - 9

ER -