A Summary of the Endocrine Society Clinical Practice Guidelines on Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency

Abstract

Steroid 21-hydroxylase deficiency accounts for about 95% of cases of congenital adrenal hyperplasia (CAH). Newborns are currently being screened for the classical forms of this disease throughout the United States and in 12 other countries. As such, it seems important to develop the best practice guidelines for treating not only infants and children, but affected adults as well. This report gives a brief overview of the most recent expert opinion and clinical practice guidelines for CAH as formulated by The Endocrine Society Task Force.

Management of Childhood Congenital Adrenal Hyperplasia—An Integrative Review of the Literature

“…CAH has an incidence in the United States of approximately 1 in 15,000 live births annually (Speiser et al, 2010). Management of CAH requires parents to administer oral steroids, typically hydrocortisone, up to three times daily.…”

“…If the dose of hydrocortisone is not sufficient, children with CAH are at a high risk for precocious puberty, which can also lead to stunted growth. Determining the proper dosage of steroids is typically achieved by obtaining routine laboratory work and measuring height, weight, and bone age every 3–6 months in a growing child (Merke & Bornstein, 2005; Speiser et. al, 2010).…”

“…Additionally, stress dosing (doubling or tripling the oral steroid dose) is required when the child is experiencing an acute illness, such as fever or a broken bone. An emergency intramuscular (IM) injection of hydrocortisone is required when a child is unable to tolerate oral medications and/or if signs of adrenal crisis are present (Merke & Bornstein, 2005; Speiser et al, 2010; Witchel & Azziz, 2011). The need for stress dosing, either orally or by injection, related to simple viral and bacterial childhood illnesses is frequent and unpredictable, often requiring parents to make complex treatment decisions (Merke & Bornstein, 2005).…”

“…There are multiple challenges for practitioners and families regarding the treatment and monitoring of children with CAH including: achieving optimal glucocorticoid replacement; height and weight difficulties; excess testosterone exposure; and the need for stress dosing during times of illness (Kim, Ryabets-Lienhard & Geffner, 2012; Merke & Bernstein, 2005; Speiser et al, 2010). In addition to these physiological concerns, children with CAH and their families must also manage the psychosocial and behavioral aspects of chronic illness, such as dealing with school personnel who are unfamiliar with the condition and the possible stigmas associated with chronic illness and, for girls, atypical genitalia (Schaeffer et al, 2010; Speiser et al, 2010).…”

“…In addition to these physiological concerns, children with CAH and their families must also manage the psychosocial and behavioral aspects of chronic illness, such as dealing with school personnel who are unfamiliar with the condition and the possible stigmas associated with chronic illness and, for girls, atypical genitalia (Schaeffer et al, 2010; Speiser et al, 2010). The purpose of this integrative review was to explore the management and care, associated health issues, and growth and developmental consequences for children with CAH as well as the family response to the condition.…”