Adrenogenital Syndrome

Definition

Definition of Adrenogenital Syndrome
This condition is also more properly known as congenital adrenal hyperplasia. This is a group of conditions of similar source: a family of autosomal recessive disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol, the stress fighting hormone. The master hormonal regulatory gland, the pituitary, sensing the deficiency, secretes massive amounts of the stimulating hormone corticotropin to bring the cortisol levels up to normal. This hormone in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects on the fetus and child, leading to so-called "virilization."

Symptoms

Symptoms of Adrenogenital Syndrome
Newborn females with this condition usually have a swollen clitoris with the urethral opening located at the base, that is, they present signs of ambiguous genitalia which often appears more male than female. The internal features of the female reproductive tract are normal, however. These include the ovaries, uterus, and fallopian tubes. As the girl ages, various other features will begin to appear more masculine, such as a significant deepening of the voice, facial hair, and lack of menstruation during puberty.

While newborn males do not present any obvious changes, signs of the condition will become apparent well before puberty normally begins. A boy will become increasingly muscular, the penis will enlarge, pubic hairs will become apparent and his voice will deepen. These typical signs of puberty may occur as early as 2-3 years of age. The testes, at time of puberty, will be unusually small as well.

Causes

Causes of Adrenogenital Syndrome
All of the forms of congenital adrenal hyperplasia are caused by genetically induced enzyme deficiencies in the pathways that produce steroid hormones. Deficiency of the enzyme 21-hydroxylase accounts for 95% of affected patients.

Diagnosis

Diagnosis of Adrenogenital Syndrome
Diagnosis of congenital adrenal hyperplasia can be made through a series of tests and exams, including: blood and urine samples to examine hormone and electrolyte levels, X-rays to determine bone age, and genetic tests in confirming diagnosis of the condition.

Prognosis

Prognosis of Adrenogenital Syndrome
Good health but short stature may result even with proper treatment. Males have normal fertility while females have lower fertility rates, as well as having a smaller opening of the vagina. Some possible complications associated with this condition include: testicular tumors in adult men, high blood pressure, and low blood sugar levels.

Treatment

Treatment of Adrenogenital Syndrome
Treatment of this condition involves hormone replacement. Treatment is monitored by measures of blood salt composition (electrolytes), by suppression of overly-rapid sexual maturation, and by monitoring of the skeletal maturation rate by bone age testing.

Prevention

Prevention of Adrenogenital Syndrome

1. Genetic counseling is indicated for parents with a family history of congenital adrenal hyperplasia (of any type) or a family with a child who has the condition.
2. A newborn screening test is available for the most common form of congenital adrenal hyperplasia and can be done on heelstick blood . This test is not yet widely available.