Management of Childhood Congenital Adrenal Hyperplasia

An Integrative Review of the Literature

Louise Fleming, PhD, RN; Marcia Van Riper, PhD, RN, FAAN; Kathleen Knafl, PhD, FAAN

Disclosures

J Pediatr Health Care. 2017;31(5):560-577. 

In This Article

Abstract and Introduction

Abstract

Congenital adrenal hyperplasia (CAH) is an endocrine condition that requires parents to administer steroids up to three times daily, supplementing maintenance doses with oral or injectable doses during times of illness. The purpose of this integrative review was to explore the management, care, and associated health issues for children with CAH and the family response to the condition. Four literature indexes were searched, with 39 articles included. Four themes emerged: (a) Health- and Development-Related Issues, (a) Effects of Excess Androgens, (c) Life Experience of CAH, and (d) Managing and Averting Adrenal Crisis. Families having a child with CAH face complex concerns related their child's growth, the fear of adrenal crisis events, and the consequences of atypical genitalia for affected girls. Future studies should focus on interventions that provide guidelines to increase parental preparedness in managing adrenal crises and creating support systems for affected girls.

Introduction

Classic congenital adrenal hyperplasia (CAH) is a rare, life-threatening endocrine disorder that affects boys and girls equally. 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 a child is prescribed too much hydrocortisone, adverse effects can include growth suppression, obesity, and other Cushingoid features. 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 to 6 months in a growing child (Merke and 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 injection of hydrocortisone is required when a child is unable to tolerate oral medications and/or if signs of adrenal crisis are present (Merke and Bornstein, 2005, Speiser et al., 2010, Witchel and 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).

Girls born with CAH often experience virilization, which results in atypical genitalia at birth, because of elevated testosterone related to adrenal dysfunction. Boys born with CAH have typically appearing male genitalia (Witchel & Azziz, 2011). Families having a girl with CAH may face multiple surgeries into adolescence if parents, in consultation with their daughter's physicians, make the determination that reconstructive feminizing genitoplasty is warranted (Witchel & Azziz, 2011).

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 et al., 2012, Merke and Bornstein, 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 2011; 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.

"There are multiple challenges for practitioners and families regarding the treatment and monitoring of children with CAH."

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