
All iLive content is medically reviewed or fact checked to ensure as much factual accuracy as possible.
We have strict sourcing guidelines and only link to reputable media sites, academic research institutions and, whenever possible, medically peer reviewed studies. Note that the numbers in parentheses ([1], [2], etc.) are clickable links to these studies.
If you feel that any of our content is inaccurate, out-of-date, or otherwise questionable, please select it and press Ctrl + Enter.
Diagnosis of congenital adrenal cortex dysfunction
Medical expert of the article
Last reviewed: 06.07.2025
When a child is born with an intersex structure of the external genitalia and the absence of palpable testicles, a study of sex chromatin should be a mandatory diagnostic method of research, allowing to avoid errors in determining the sex of congenital adrenogenital syndrome in girls.
Determination of the level of 17-ketosteroids (17-KS) in urine or 17-hydroxyprogesterone in blood is the most important diagnostic method: in congenital adrenogenital syndrome, the excretion of 17-KS in urine and the level of 17-hydroxyprogesterone in blood may exceed the norm by 5-10 times, and sometimes even more. The content of total 17-OKS in urine in virile and salt-wasting forms of the disease has no diagnostic value. However, in the hypertensive form of the disease, total 17-OKS are increased mainly due to the fraction of 11-deoxycortisol (Reichstein's "S" compound).
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 tens of times higher than the age norm.
An effective method of differential diagnosis is the dexamethasone test. Adults are given 2 mg of dexamethasone orally every 6 hours after meals for 48 hours (a total of 32 tablets of 0.5 mg). Before the test and on its last day, a daily urine sample is collected to determine the content of 17-KS or the level of 17-hydroxyprogesterone in the blood is determined. In patients with congenital adrenogenital syndrome, the excretion of 17-KS in the urine and the level of 17-hydroxyprogesterone in the blood decrease sharply against the background of the dexamethasone test. The test is considered positive if the excretion of 17-KS decreases by more than 50%. In tumors (androsteromas, arrhenoblastomas), the level of this indicator usually does not decrease or decreases insignificantly. The test can also be performed with other glucocorticoid drugs: cortisone, prednisolone. However, the dexamethasone test is the most objective, since small doses of this drug do not increase the excretion of metabolites (17-KS and 17-OCS) in the urine.
X-ray of the hands and wrists in patients with congenital adrenogenital syndrome reveals a significant advance of the bone age relative to the actual one. Chest X-ray examination reveals premature calcification of the costal cartilages and a tendency to compaction of the bone structure in almost all patients, and in some cases, calcium deposits in the tendons of the muscles and in the auricles. Retropneumoperitoneum and infusion urography help to establish the degree of adrenal hyperplasia or tumor. In long-untreated patients, adrenal adenomatosis is possible, which is sometimes difficult to distinguish from a tumor (in this case, a dexamethasone test can help). Pneumopelviography in patients with genetic female sex reveals the uterus, determines the size and shape of the appendages, which is especially important in diagnosing sex and differential diagnosis with virilizing ovarian tumor.
Congenital adrenogenital syndrome in females should be differentiated from androgen-producing tumors (androsteroma, arrhenoblastoma) and true hermaphroditism, when there is no premature sexual and physical development. In androgen-producing tumors, a dexamethasone test does not lead to a significant decrease in the excretion of 17-KS in urine. In hermaphroditism, this indicator is usually within the normal range, sometimes decreased. Suprarenorenography and pneumopelviorenography help to identify the tumor and allow us to judge the state of the adrenal glands 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 dexamethasone test is an important diagnostic test.
Congenital adrenogenital syndrome should also be differentiated from an extremely rare disease - idiopathic congenital virilization of the external genitalia (ICVEG). According to I. V. Golubeva, this disease is an isolated clinical form of hermaphroditism. Its etiology and pathogenesis have not been fully clarified. It is assumed that it is based on a specific form of congenital dysfunction of the fetal adrenal cortex with subsequent normalization of its function. Symptoms are similar to congenital adrenogenital syndrome, but with IVEG, menarche occurs on time or slightly earlier, menstruation is regular, mammary glands are developed, urinary excretion of 17-KS is within the age norm, bone age is not ahead of the passport age. Patients with IVEG do not need drug treatment, they only need feminizing surgical correction of the external genitalia.