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The prospective study found that babies with classic congenital adrenal hyperplasia (CAH) have a significantly smaller thalamic region in the brain from early in life—suggesting that the condition’s effect on brain development begins in the womb.
Vidya Rajagopalan, PhD, was first author of the paper– Opens in a new window, which was chosen by the board of Hormone Research in Paediatrics—the official journal of PES—from all papers published in that journal by PES members last year.
Dr. Kim is Co-Director of the Congenital Adrenal Hyperplasia Clinic at Children’s Hospital Los Angeles, one of the largest CAH clinics for children in the country. The rare disorder affects how the adrenal glands produce hormones. Classic CAH is its most severe form.
“There are few centers with the expertise needed to accomplish a study like this,” she notes. “In addition to being a nationally designated CAH Comprehensive Care Center by CARES Foundation, CHLA has extensive experience in infant neuroimaging. This was a true team science project.”
Prenatal exposures
Older children and adults with CAH are at higher risk for behavioral problems, learning disabilities and psychological conditions. Dr. Kim and other researchers have also shown that these individuals have structural changes in their brains. Dr. Kim’s team aimed to investigate the early origins of those changes.
The group conducted brain MRIs on 16 infants with classic CAH and compared them to 14 similarly aged healthy babies. The key finding was that babies with CAH had brains with a much smaller thalamic region—a complex area of the brain that relays sensory and motor information to the cerebral cortex.
The thalamus develops early in gestation, at 8 to 14 weeks. This makes it particularly vulnerable to hormone changes in utero, Dr. Kim says.
“We need to look as early as possible at congenital adrenal hyperplasia, as it involves prenatal exposures to hormone imbalances that could affect patients over their lifetime,” she explains. “These changes may take time to manifest, so it will be critical to conduct longer-term studies through adolescence.”
Study authors were Vidya Rajagopalan, Lloyd N. Overholtzer, William S. Kim, Jessica L. Wisnowski, Trevor A. Pickering, Nicole R. Fraga, Joyce Javier, Liza Mackintosh, Christine Mirzaian, Mitchell E. Geffner and Mimi S. Kim.
