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Caring for Patients With Congenital Adrenal Hyperplasia Throughout the Lifespan
Noor Zwayne1, Reeti Chawla, Kathleen van Leeuwen
1Division of Pediatric and Adolescent Gynecology, Women's Health Department, University of Texas at Austin, Dell Medical School, Austin, Texas; and the Division of Pediatric Endocrinology and the Division of Pediatric Surgery, Phoenix Children's Hospital, Phoenix, Arizona.
Abstract:
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder affecting cortisol and aldosterone biosynthesis, which can lead to virilization in fetuses with a 46,XX karyotype. 21-hydroxylase deficiency is the most common cause of CAH, accounting for 90-99% of all patients with the condition. The management of patients with CAH should be done with a multidisciplinary team, which would address all of the complex components of their care throughout their lifespans. Many multidisciplinary teams have adopted shared decision-making approaches to genital surgery in which parents and patients can be part of the decision-making process. Continued research is needed to best serve these patients throughout their lifespans.
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