ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2018; 103(11): 4043–4088.

Since the publication of the 2010 Endocrine Society clinical practice guideline for Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency, there have been several advances in the diagnosis and management of the condition. Neonatal diagnosis methods have been refined to use gestational age in addition to birth weight for cut-point interpretation or to employ liquid chromatography–tandem mass spectrometry (LC-MS/MS) as a secondary screening test. The standard for confirming a diagnosis of CAH continues to be serum 17-hydroxyprogesterone (17OHP) concentrations, most often following cosyntropin stimulation. The advent of commercially available serum 21-deoxycortisol measurements may simplify identification of CAH carriers. New human and animal data convey further concerns regarding prenatal dexamethasone treatment. No international registry has yet been established for the long-term outcomes of individuals treated prenatally with dexamethasone. Although non-invasive prenatal diagnosis of fetal sex is now commonly performed, prenatal CAH genotyping has been reported only in a proof-of-concept study and is not routinely available.

This updated clinical practice guideline includes more detailed protocols for adults, especially pregnant women. It suggests more moderate use of stress dosing during minor illness or minor surgery in patients with CAH. Over time, the approach to genital reconstructive surgery has changed, incorporating more shared decision-making among parents, patients, surgeons, endocrinologists, mental health providers, and support groups. A systematic review and meta-analysis of published literature on surgery for females with CAH through early 2017 could not identify enough scientifically rigorous studies delineating a favorable benefit-to-risk ratio for either early or late elective genital reconstructive surgery for females with CAH. CAH should not be equated with other, rarer 46,XX or XY disorders of sex development in formulating treatment guidelines and policies. The main goal is consistently directed at preserving functional anatomy and fertility. In another new meta-analysis, investigators found no direct well-controlled evidence of cardiovascular or metabolic morbidity and mortality associated with CAH. Thus, it is recommended that individuals with CAH should be monitored according to conventional guidelines for monitoring CAH-unaffected children, adolescents, and adults. Regular follow-up of adult patients with CAH in specialist centers is an important goal, and there is a need for improved mental health monitoring. Finally, in this guideline, the authors discuss potential new therapies and future ways to improve quality of life for individuals with CAH.