Clinical Practice Guideline

Congenital Adrenal Hyperplasia Guideline Resources

September 19, 2018

Full Guideline: Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline
JCEM | September 2018

Phyllis W. Speiser(chair), Wiebke Arlt, Richard J. Auchus, Laurence S. Baskin, Gerard S. Conway, Deborah P. Merke, Heino F. L. Meyer-Bahlburg, Walter L. Miller, M. Hassan Murad, Sharon E. Oberfield, Perrin C. White

  1. Cardiovascular and Metabolic Outcomes in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-analysis
  2. Genital Reconstruction Surgery in Females with Congenital Adrenal Hyperplasia: A Systematic Review and Meta-analysis

Differences between the 2010 and 2018 guidelines:

  • Reflects newer published data and prospects of advances in diagnosis and treatments
  • Emphasizes shared decision making among congenital adrenal hyperplasia patients, their families, and healthcare professionals when it comes to the medical, surgical, and psychological management of the disorder
  • Includes more detailed protocols for adults, especially pregnant women
  • Discusses potential new therapies and future ways to improve quality of life for individuals with congenital adrenal hyperplasia 


Resources



Essential Points

  • All newborn screening programs should incorporate screening for congenital adrenal hyperplasia, and infants with positive screens should be referred to pediatric endocrinologists.
  • Prenatal therapy for congenital adrenal hyperplasia should be avoided (except as part of ethically-approved protocols) due to incompletely defined postnatal risks.
  • Healthcare professionals should inform all parents of pediatric patients with CAH (particularly girls with ambiguous genitalia) about surgical options, including delaying surgery until the child is older.
  • All surgical decisions for minors should be the prerogative of families (i.e., parents with assent from older children) in joint decision making with experienced surgical consultants.
  • Adolescents with congenital adrenal hyperplasia should start the transition to adult care several years prior to dismissal from pediatric endocrinology to ensure continuation of care throughout their entire life.
  • Growing individuals with classic congenital adrenal hyperplasia should receive maintenance therapy with hydrocortisone and should avoid chronic use of more potent or long-acting glucocorticoids, which can have adverse side effects.
  • Patients with congenital adrenal hyperplasia (and parents of minors) should seek mental health treatment to address any congenital adrenal hyperplasia-related psychosocial problems.

Summary of Recommendations

+ 1.0 NEWBORN SCREENING

+ 2.0 PRENATAL TREATMENT OF CONGENITAL ADRENAL HYPERPLASIA

+ 3.0 DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA

+ 4.0 TREATMENT OF CLASSIC CONGENITAL ADRENAL HYPERPLASIA

+ 5.0 TREATMENT OF NONCLASSIC CONGENITAL ADRENAL HYPERPLASIA

+ 6.0 LONG-TERM MANAGEMENT OF PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA

+ 7.0 RESTORING FUNCTIONAL ANATOMY BY SURGERY IN INDIVIDUALS WITH CAH

+ 8.0 EXPERIMENTAL THERAPIES AND FUTURE DIRECTIONS

+ 9.0 MENTAL HEALTH

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Endocrine Society Guideline Methodologists

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We are seeking two members to undertake training to become GRADE-certified Endocrine Society Guideline Methodologists (ESGM) for the development of Endocrine Society Clinical Practice Guidelines. ESGMs will materially participate in the guideline development process and thus will be guideline authors, and will also gain valuable career development experience in the process.

We are seeking two members to undertake training to become GRADE-certified Endocrine Society Guideline Methodologists (ESGM) for the development of Endocrine Society Clinical Practice Guidelines. ESGMs will materially participate in the guideline development process and thus will be guideline authors, and will also gain valuable career development experience in the process.

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