Clinical endocrinologists who treat adolescents for a genetic disorder in the adrenal glands that affects the body's health, growth and development often face a delicate balancing act.
If they don't provide enough corticosteroids to their patients with congenital adrenal hyperplasia, a group of conditions that limit the adrenal glands' ability to make certain vital hormones, the teens can become obese, stop growing and develop low bone density. Too many steroids can induce early puberty, infertility and severe acne.
In an article published in December in the first volume of the new journal The Lancet Diabetes & Endocrinology, Weill Cornell pediatric urologist Dr. Dix Poppas provides the first comprehensive review of congenital adrenal hyperplasia and discusses the most recent treatment strategies for adolescents diagnosed with the disorder.
"So many practicing endocrinologists don't see these children, and when they do, they can often be very difficult to manage," said Dr. Poppas, vice chair of the Department of Urology, the Richard Rodgers Professor of Pediatric Urology, professor of urology, professor of urology in obstetrics and gynecology, professor of urology in pediatrics and professor of urology in surgery (plastic surgery). Dr. Poppas is also chief of the Institute for Pediatric Urology at the Komansky Center for Children's Health at NewYork-Presbyterian/Weill Cornell Medical Center.
"The hope is that this manuscript will provide practicing endocrinologists with a better understanding of the complex management strategies these children require," said Dr. Poppas, who is also surgical director of the Comprehensive Center for Congenital Adrenal Hyperplasia at the Komansky Center, which is recognized by the Congenital Adrenal Hyperplasia Research Education and Support Foundation as the first Center of Excellence in the country for treating the disorder.
Congenital adrenal hyperplasia is the most common recessive genetic disorder in humans. Its incidence and severity depend on the form it takes. The disorder affects the adrenal glands, which produce hormones vital to the body's normal function — among them cortisol, which affects energy levels, sugar levels, blood pressure and the body's response to illness and injury; aldosterone, which helps maintain proper salt levels; and androgen, which are male-like hormones needed for normal growth and development in boys and girls.
Normally functioning adrenal glands produce healthy amounts of these hormones. But in most cases of congenital adrenal hyperplasia, the adrenal glands don't produce enough cortisol, which can lead to fatigue, nausea, weight loss and & when patients are under stress & even death. For some patients, their adrenal glands may not produce enough aldosterone, leading to a salt imbalance that can be fatal.
These imbalances in the hormones lead to increased production of androgen, which can cause children to grow too fast and stop growing too early, and to develop public hair and acne. For girls who have too much androgen in their bodies before birth, they can develop atypical external genitalia (usually surgically corrected in infancy) and irregular menstrual cycles, and may have limited sexual function. Patients with the disorder require life-long medical management.