Newborn Adrenal Syndrome

A newborn with adrenal syndrome, also known as adrenogenital syndrome or congenital adrenal hyperplasia, may appear healthy at birth but could develop symptoms of adrenal crisis, which can be fatal if left untreated.

Significance

• Children born with congenital adrenal hyperplasia lack an enzyme required by the adrenal gland to make cortisol and aldosterone, which leaves the body to produce more androgen, which is a male sex hormone. Approximately 1 in 10,000 to 18,000 babies are born with congenital adrenal hyperplasia, according to Medline Plus.

Symptoms in Girls

• A girl born with adrenal syndrome will have female internal organs but may have genitals that look both male and female, often appearing more male. As she ages, she may experience facial hair growth, abnormal or absence of menstruation, and deepening of her voice during puberty.

Symptoms in Boys

• At birth, boys with adrenal syndrome are visually asymptomatic but may begin puberty as early as age 2 years. They will develop masculine characteristics early and may be tall as children but considered short once they reach adulthood.

Warning

• Newborns who suffer from severe congenital adrenal hyperplasia may experience adrenal crisis from a lack of salt, which can lead to death within 1 to 6 weeks after birth if left untreated, notes Medline Plus. Signs of adrenal crisis include dehydration, electrolyte changes, vomiting and cardiac arrhythmia.

Diagnosis & Treatment

• A prenatal test, called chorionic villus sampling, should be conducted if the parents have a family history of the condition. A newborn screening test, which consists of a heelstick blood test, is available to test for congenital adrenal hyperplasia at birth. Treatment consists of daily steroid therapy to return the hormone levels to normal.