Clinical Manifestations and Treatment Challenges in Infants and Children With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Natalie Nokoff, Cindy Buchanan, Jennifer M. Barker
Abstract
The most common form of congenital adrenal hyperplasia (CAH) is secondary to 21-hydroxylase deficiency (21OHD). This review will summarize the clinical manifestations, recommended treatments, monitoring, clinical challenges and management strategy, and treatment challenges in special situations for infants and children with classic CAH due to 21OHD. Specifically, we review newborn screening and the initial diagnosis, glucocorticoid and mineralocorticoid treatment, and recommended monitoring, including anthropometric and laboratory measures. Children with CAH may have premature adrenarche, precocious puberty, and early growth plate closure and have an increased risk of hypertension and overweight/obesity. Many 46,XX individuals will also have genital differences, which may include clitoromegaly and/or a urogenital sinus. We review psychosocial and surgical considerations, including suggestions on how to talk with children, family, and caregivers about bodily difference. These suggestions may be used by families and/or providers caring for individuals with CAH.