The management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency requires a shared decision-making approach that incorporates providers, families and the best interest of the patient, with an effort to consider and incorporate quality-of-life and psychosocial health concerns, according to an updated clinical practice guideline released by the Endocrine Society.
The guideline includes information on new developments since the original recommendations were published in 2010, including refined neonatal diagnosis methods, new data regarding prenatal dexamethasone treatment and an evolving approach to genital reconstructive surgery that incorporates more shared decision-making among providers and a young patient’s family members.
“There much more information now about the adults with the disease, about new approaches to treatment, much of which is still experimental,” Richard Auchus, MD, PhD, professor of pharmacology and internal medicine in the division of metabolism, endocrinology and diabetes at the University of Michigan, told Endocrine Today. “But the public needs to be aware of this information, because these things are likely to become standard of care or at least incorporated into practice before the next time the guidelines are rewritten.”
Recommendations from the guideline include the following:
- All newborn screening programs should incorporate screening for CAH, and infants with positive screens should be referred to pediatric endocrinologists.
- Prenatal therapy for CAH should be avoided (except as part of ethically approved protocols) due to incompletely defined postnatal risks.
- Health care professionals should inform all parents of pediatric patients with CAH (particularly girls with ambiguous genitalia) about surgical options, including delaying surgery until the child is older.
- All surgical decisions for minors should be the prerogative of families (ie, parents with assent from older children) in joint decision-making with experienced surgical consultants.
- Adolescents with CAH should start the transition to adult care several years prior to dismissal from pediatric endocrinology to ensure continuation of care throughout their entire life.
- Growing individuals with classic CAH should receive maintenance therapy with hydrocortisone and should avoid chronic use of more potent or long-acting glucocorticoids, which can have adverse side effects.
- Patients with CAH (and parents of minors) should seek mental health treatment to address any CAH-related psychosocial problems.
“Regrettably, because this is a rare disease, many of the recommendations are of modest-quality evidence, and there is nothing we can do about that,” Auchus said. “But there are some things we can say one should not do, or some things one should not do routinely. For example, we don’t recommend routinely imaging the adrenal glands. We also have more information about fertility in patients that was incorporated into the guideline.”
Auchus said there are still elements of disease management that do not have a definitive answer, such as the best glucocorticoid regimen for a patient with the disease.
“We tried to give people recommended laboratory tests to monitor, we tried not to be hard and fast about the level to shoot for, but we did give some general guidance,” Auchus said.
The guideline also stresses the need to retain patients with CAH after “graduation” from pediatric care, as well as the need for improved mental health monitoring.
Auchus said that shared decision-making between health care professionals, patients and caregivers is key.
“Patients and their families need to be informed of all the options and discuss the pros and cons of each, and then choose wisely and not be pushed into making a decision before they have all the information, so they can really think about what is best for the child,” Auchus said.
In an analysis published in January 2017 in the European Journal of Endocrinology and reported by Endocrine Today, researchers noted that new therapies are needed to better address the comorbidities associated with congenital adrenal hyperplasia, whereas glucocorticoid treatment in pregnant women with the condition remains a matter of debate. The researchers wrote that patient education about the risks of the disease and the long-term use of glucocorticoids as a treatment for the disease is necessary. – by Regina Schaffer
For more information:
Richard Auchus, MD, PhD, can be reached at the Endocrine Oncology Clinic, 1500 E. Medical Center Drive, University of Michigan Comprehensive Cancer Center, Level B1, Reception E, Ann Arbor, MI 48109; email: firstname.lastname@example.org.
Disclosures: Auchus reports he has served as a consultant for Diurnal. Please see the guideline for the other authors’ relevant financial disclosures.