A case report published in Pediatrics suggests the combination of growth hormone and anastrozole, a third-generation aromatase inhibitor, in addition to glucocorticoid replacement was effective and safe in a patient with CYP11B1 congenital adrenal hyperplasia.
“This patient is only the second reported case of the use of an aromatase inhibitor in combination with growth hormone to optimize height in 11β-hydroxylase-deficient [congenital adrenal hyperplasia],” Katherine Hawton, MA, MBBS, MRCPCH, from Bristol Royal Hospital for Children in the United Kingdom, and colleagues wrote.
Deficiency in 11β-hydroxylase is the second most common form of congenital adrenal hyperplasia, affecting 1 in 100,000 births, and is the result of CYP11B1 mutations. Currently, the use of glucocorticoids, which replace deficient steroids and diminish adrenal sex hormone overproduction, is the standard of care in this population, according to the researchers.
The present case report included a patient with congenital adrenal hyperplasia who had received suboptimal treatment and presented at 6.5 years of age with precocious puberty, hypertension, tall stature, advanced bone age, and a 150-cm predicted final height.
After performing hormonal profiles and a genetic analysis, the researchers confirmed the diagnosis of 11β-hydroxylase deficiency. Along with glucocorticoid replacement, the patient received anastrozole and growth hormone from ages 7.38 years to 13 years to enhance growth.
Following treatment initiation, the patient’s growth rate significantly increased, resulting in a final height of 177.5 cm — 11.5 cm above his mid-parental height — by age 15.35 years. In addition, the patient experienced a slowing of bone age advancement.
“This novel treatment proved to be highly efficacious, with no adverse effects,” Dr Hawton and colleagues concluded. “It may therefore provide a promising option to promote growth in exceptional circumstances in individuals with 11β-hydroxylase deficiency presenting late with advanced skeletal maturation and consequent short stature.”
The researchers added that additional studies are necessary to “establish the long-term side effects of treatment with [aromatase inhibitors] in this patient group, including the evaluation of their impact on later fertility, lipid profiles, and bone mineral density.”
- Hawton K, Walton-Betancourth S, Rumsby G, Raine J, Dattani M. Growth hormone with aromatase inhibitor may improve height in CYP11B1 congenital adrenal hyperplasia [published online January 26, 2017]. Pediatrics. doi: 10.1542/peds.2016-0730