Congenital hyperplasia is an inherited disorder that affects the production of certain hormones in the adrenal glands. There are several different forms of the condition, but most infants who are born with hyperplasia have unusually low levels of cortisol and elevated levels of androgen. As a result, boys tend to enter puberty at a very young age and girls may exhibit male sexual characteristics. Inpatient hospital care may be necessary in the first few weeks of life to stabilize body systems, and patients generally need to take hormone supplements for the rest of their lives to normalize the adrenal glands and prevent complications.
A newborn can inherit congenital hyperplasia if both of his or her parents carry a particular mutated gene that is responsible for hormone production. When the gene is altered or absent, the proteins needed to build cortisol do not function properly. As a consequence, testosterone and other hormones secreted by the adrenal glands tend to be overproduced. It is common for patients with congenital hyperplasia to have very low blood sugar, high blood pressure, and poor kidney functioning.
The symptoms associated with congenital hyperplasia can vary depending on the sex of the infant and the severity of hormonal imbalances. Males with milder forms of the condition may exhibit symptoms until the age of two or three, but a severe case can cause dehydration, vomiting, and failure to thrive in a newborn. A boy may enter puberty as early as age three, developing a deep voice, body and pubic hair, and defined muscles. Female infants may have ambiguous genitalia at birth and develop male-like puberty changes during childhood. As adults, both sexes are usually much shorter than average, and women are often infertile.
Specialists can diagnose congenital hyperplasia by performing physical exams and reviewing findings from laboratory blood and urine tests. Cortisol and androgen hormone levels can be confirmed with blood tests, and high levels of salt in the urine can indicate that the kidneys are not properly filtering minerals. If a baby has ambiguous genitalia, additional genetic tests can be performed to determine the true sex of the infant.
Treatment decisions are made based on the severity of symptoms. Babies who have kidney problems are usually hospitalized and given intravenous medications and fluids to prevent dehydration. In addition, female infants are typically scheduled for surgery in the first few weeks of life to correct genital abnormalities. Ongoing care with cortisol replacement drugs and blood sugar-regulating medications are needed to reduce the chances of adrenal failure. Patients usually have normal life expectancies, but short stature, infertility, and unusual sex characteristics tend to persist despite treatment efforts.