Blue Springs, Mo. – A three-year-old Blue Springs girl featured in an NBC Action News story about children born with ambiguous genitalia is diagnosed with Congenital Adrenal Hyperplasia.
In addition to affecting sexual development, CAH can be deadly if not treated.
CAH is an inherited disorder that affects the adrenal glands. According to
Cares Foundation, a support group for people with CAH, the condition affects boys and girls in equal numbers.
Girls are more quickly diagnosed with the problem because the condition is more likely to create genital deformities that will be immediately recognized.
When the Blue Springs toddler was born, it took doctors 24 hours to determine the baby was a female.
The condition caused the infant’s clitoris to develop externally to a point that it looked like a penis.
Infant males appear normal at birth and could go undiagnosed until other symptoms arise such as vomiting attacks or life-threatening shock.
Now, however, all 50 states require routine screening at birth.
CARES Foundation says both parents must be carriers to pass the disorder on to a child. DNA tests can tell parents if they are carriers.
The condition can affect sexual development, puberty, growth, and fertility.
Like most people with CAH, the Blue Springs toddler also lacks an adrenal hormone called aldosterone.
When the adrenals don’t create enough aldosterone, it can lead to life-threatening bouts of dehydration and salt deficiency. That prevents problems with balancing sodium, potassium and body fluids.
The Blue Springs toddler is being treated at a clinic that specializes in Disorders of Sex Development at
Children’s Mercy Hospital in Kansas City.
