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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