Diagnosis of congenital adrenal cortex dysfunction

At the birth of a child with an intersexual structure of the external genitalia and the absence of palpable testicles, the study of sex chromatin should be an obligatory diagnostic method of research, which makes it possible to avoid mistakes in determining the gender of congenital adrenogenital syndrome in girls.

Determining the level of 17-ketosteroids (17-CS) in urine or 17-hydroxyprogesterone in the blood is the most important diagnostic method: with congenital adrenogenital syndrome, excretion of 17-CS with urine and 17-hydroxyprogesterone level in blood can exceed the norm by 5-10 times, and sometimes more. The content of total 17-ACS in urine with virile and salt-losing forms of the disease has no diagnostic significance. However, in the hypertensive form of the disease, the total 17-ACS is increased mainly due to the fraction 11-deoxycortisol (compound "S" Reichstein).

The most informative indicators of hormonal disorders in congenital adrenogenital syndrome are the levels of 17-hydroxyprogesterone and testosterone in the blood. Often, these indicators are ten times higher than the age norm.

An effective method of differential diagnosis is a test with dexamethasone. Adults are given oral 2 mg dexamethasone every 6 hours after a meal for 48 hours (total 32 tablets of 0.5 mg). Before and on the last day, daily urine is collected to determine the content of 17-CS or determine the level of 17-hydroxyprogesterone in the blood. In patients with congenital adrenogenital syndrome, the excretion of 17-CS with urine and the level of 17-hydroxyprogesterone in the blood on the background of a sample with dexamethasone decreases dramatically. The sample is considered positive if the excretion of 17-CS decreases by more than 50%. In tumors (androsteromas, arrenoblastomas), the level of this indicator usually does not decrease or decrease slightly. The sample can be carried out with other glucocorticoid drugs: cortisone, prednisolone. However, the test with dexamethasone is the most objective, since small doses of this drug do not increase urinary excretion of metabolites (17-CS and 17-ACS).

Radiography of brushes with wrist joints in patients with congenital adrenogenital syndrome reveals a significant advance in bone age relative to the actual. With chest x-rays, almost all patients show premature calcification of the costal cartilage and a tendency to tighten the structure of the bone tissue, and in some cases - the deposition of calcium in the tendons of the muscles in the auricles. Retropneumoperitoneum and infusion urography make it possible to establish the degree of hyperplasia of the adrenal glands or a tumor. In long-term untreated patients, adenomatosis of the adrenal gland is possible, which is sometimes difficult to distinguish from a tumor (in this case a test with dexamethasone may help). Pneumopyelviography in patients with a genetic female sex reveals the uterus, determines the size and shape of the appendages, which is especially important in the diagnosis of sex and differential diagnosis with a virilizing tumor of the ovaries.

Congenital adrenogenital syndrome in females should be differentiated from androgen-producing tumors (androsteroma, arrenoblastoma) and true hermaphroditism, when there is no premature sexual and physical development. In androgen-producing tumors, a test with dexamethasone does not lead to a significant decrease in the excretion of 17-CS in the urine. With hermaphroditism, this indicator is usually within normal limits, sometimes reduced. Suprarenorentgenography and pneumopylescope fluorography help to identify the tumor and allow us to judge the state of the adrenal and internal genital organs.

In males, congenital adrenogenital syndrome should be differentiated from testicular tumors, in which premature sexual and physical development is not observed. In this regard, the test with dexamethasone is an important diagnostic test.

Congenital adrenogenital syndrome should also be differentiated from an extremely rare disease - idiopathic congenital virilization of the external genitalia (IVVNG). According to IV Golubeva, this disease is a separate clinical form of hermaphroditism. His etiology and pathogenesis have not been fully clarified. It is assumed that it is based on a peculiar form of congenital dysfunction of the fetal cortex of the adrenal glands with subsequent normalization of its function. Symptoms are similar to congenital adrenogenital syndrome, however, with IVVNG menarche comes on time or somewhat earlier, menstruation is regular, the mammary glands are developed, urinary excretion of 17-KC within the age limit, bone age does not outstrip the passport age. Patients with IVNGN do not need medical treatment, they only need feminizing surgical correction of the external genitalia.

[1], [2], [3], [4], [5], [6]