Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency
Recommendations
Newborn screening
Cost-effectiveness
Prenatal treatment of congenital adrenal hyperplasia
Diagnosis of congenital adrenal hyperplasia
Treatment of classic congenital adrenal hyperplasia
Stress dosing
Monitoring therapy
Treatment of nonclassic congenital adrenal hyperplasia
Long-term management of patients with congenital adrenal hyperplasia
Transition to adult care
Genetic counseling
Fertility counseling
Management of congenital adrenal hyperplasia and nonclassic congenital adrenal hyperplasia during pregnancy
Surveillance for long-term complications of congenital adrenal hyperplasia and its treatment
Technical remark: Clinicians should use their own judgment for the above procedures.
Restoring functional anatomy by surgery in individuals with congenital adrenal hyperplasia
Experimental therapies and future directions
General considerations and unmet clinical needs
Adrenalectomy
Mental health
Technical remark: Clinicians should be aware that individuals with congenital adrenal hyperplasia may be at risk for developing mental health problems and should have a low threshold for referral to psychological or psychiatric treatment. Mental health practitioners should have specialized expertise in assessing and managing congenital adrenal hyperplasia–related psychosocial problems.
Recommendation Grading
Overview
Title
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency
Authoring Organization
Endocrine Society
Publication Month/Year
September 27, 2018
Last Updated Month/Year
April 2, 2024
Supplemental Implementation Tools
Document Type
Guideline
External Publication Status
Published
Country of Publication
US
Inclusion Criteria
Male, Female, Adolescent, Adult, Child, Infant
Health Care Settings
Ambulatory
Intended Users
Nurse, nurse practitioner, physician, physician assistant
Scope
Counseling, Assessment and screening, Treatment, Management
Diseases/Conditions (MeSH)
D000312 - Adrenal Hyperplasia, Congenital
Keywords
congenital adrenal hyperplasia (CAH), Congenital Adrenal Hyperplasia
Source Citation
Phyllis W Speiser, 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, Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline, The Journal of Clinical Endocrinology & Metabolism, Volume 103, Issue 11, November 2018, Pages 4043–4088, https://doi.org/10.1210/jc.2018-01865