Diagnosis and differential diagnosis of congenital adrenal hyperplasia
Endocrinology / / August 12, 2017
Diagnosis and differential diagnosis of congenital adrenal hyperplasia is based primarily on the characteristic clinical signs of the disease - the presence of anomalies of genital organs in the neonatal period and early puberty for girls heterosexual type and izoseksualnomu type - boys.
the presence of girls urogenital sinus and hypertrophy of the clitoris correct diagnosis of sex of a newborn baby can help determining sex chromatin in leukocytes or buccal swabs.
When assessing increasing isolation 17-keto steroids should take into account age norms of their excretion.During the first two weeks of life, the child selects to 1.5-2.5 mg of 17-keto steroids per day.Then their excretion is reduced to 0.5-1.0 mg per day, which remains up to 3 years.After this age, the allocation of a 17-keto steroids begins to rise: at the age of 3-8 years, the maximum normal level is 2.5 mg / 24 h, 8-12 years - 5-6 mg / 24 h then the boys excretion of 17-keto steroids is growing faster.than girls, reaching to 14 years
Patients with congenital virilizing adrenal hyperplasia allocation of 17-keto steroids improved - children up to 2 years - in the range of 2-6 mg / 24 h, over 2 years - 6-15 mg / 24 h in adolescents - 25 to 80 mg/ 24 hours. In adults, the daily excretion of 17-keto steroids can reach a high level, exceeding 100 mg / 24 h. Characteristically pregnantriola increasing isolation, a product of the metabolism of 17-alpha-hydroxyprogesterone, 20-and 11-ketopregnandiola ketopregnantriolai pregnantriolona.
In young children who have a daily collection of urine is difficult, the study suggested a single urine sample to the chromatographic separation of C21-steroids.The ratio of 11-deoxy-17-keto steroids and 11-hydroxy-17-ketosteroids in normal children constituting 0.24 ± 0.11, children with congenital virilizing adrenal hyperplasia increased to 2.3.
differential diagnosis with androgenoprodutsiruyuschey tumor of the adrenal cortex is based on the results of the trial with the suppression of adrenal function dexamethasone, prednisone or cortisone.In contrast, patients with congenital virilizing adrenal hyperplasia, in which the use of these drugs leads to a rapid and significant reduction in release of 17-ketosteroids, in the presence of a tumor excretion of 17-ketosteroids decreases little.Patients with tumors of the adrenal cortex pregnantriolon not detected in urine.In cases where hormonal tests, in particular tests with suppression of adrenocortical function, did not give conclusive results, shown oksisuprarenorentgenografiya.
the differential diagnosis of the disease in children born with abnormalities of the genital organs, in particular with hypertrophy of the clitoris, it is necessary to take into account the possibility of virilization in utero due to the mother's hyperandrogenism in applying it during pregnancy or the presence of androgens in her arrhenoblastoma.Virilizing effects on the fetus may also have long-term use by the mother during pregnancy, large doses of synthetic progestin or estrogen.In these cases, after the birth of virilization symptoms do not progress, the allocation of a 17-keto steroids - normal.
By determining the allocation of a 17-keto steroids can be carried out differential diagnosis of congenital virilizing adrenal hyperplasia, and other types of female pseudohermaphroditism and true hermaphroditism with cases with the presence of ovote-stis.Anatomical changes of the external genitalia in these diseases can be so similar that without hormonal study or trial laparotomy differential diagnosis may be impracticable.
Very rare is arenoblastoma in girls younger than 15 years (described in only one case).The differential diagnosis to rule out the disease is based on a thorough examination of the pelvic cavity.In addition, when the selection arrhenoblastoma 17-keto steroids is not as high as in congenital virilizing adrenal hyperplasia, and is not reduced by use of glucocorticoid.
In patients who have signs of virilization appear at a later age, it may be necessary the differential diagnosis with ovarian sclerocystic - syndrome Stein-Leventhal, in which there is a disruption of the menstrual cycle until amenorrhea and more or less pronounced hypertrichosis.At the same time it draws attention to the existence of a bilateral ovarian increasing the characteristic dense consistency, usually a low level of allocation of 17-keto steroids are not declining or little reduced by the application of glucocorticoid, the absence of atrophy of the breasts, often - obesity, not peculiar to congenital adrenal hyperplasia.However, it must be borne in mind that sclerocystic ovaries can develop in women with adrenal syndrome.
- Physiology of the adrenal cortex
- Chronic adrenal insufficiency.Addison's disease
- Pregnancy in patients with chronic insufficiency of the adrenal cortex
- blood supply and innervation of the adrenal
- Clinical evaluation of laboratory studies of the functional state of the adrenal cortex
- Determination of corticosteroids and their metabolites in urine
- Diagnosis and differential diagnosis of chronic adrenal insufficiency
- Treatment of chronicadrenal insufficiency
- apoplexy adrenal cortex.Syndrome Waterhouse-Friderichsen (waterhouse- friderichsen)
- virilizing congenital adrenal hyperplasia
- biosynthesis and metabolism of the adrenal cortex hormones
- Acute adrenocortical insufficiency
cause of hypertrichosis and violationsmenstrual cycle in women poslepubertatnom period, along with deleted forms of congenital virilizing adrenal hyperplasia, may be some other dysfunction of the adrenal cortex.These include those forms of pathologies in which no signs of defect formation glucocorticoid but stimulate ACTH adrenal androgen production increases to a greater degree than normal.Temporary hyperandrogenism associated with emotional stress, childbirth, etc., May cause in these patients develop hypertrichosis.glucocorticoid treatment normalizes the adrenal response to stimulation.The differential diagnosis of this disease and congenital forms erased virilizing adrenal hyperplasia can be done using samples from ACTH administration with simultaneous determination of 17-gidroksikortikosteroidov in blood and in urine and 17-keto steroids in urine.
Some women with hypertrichosis dysfunction of the adrenal cortex are found neither at rest or after administration of ACTH.In this so-called "idiopathic" hypertrichosis assumed increased sensitivity of hair to normal glomerular number of androgens.However, recently published evidence that some of these women with normal urinary excretion of 17-ketosteroids detected in urine increased testosterone.
Boys in the differential diagnosis of congenital virilizing adrenal hyperplasia, and precocious puberty constitutional nature or associated with the pathology of the hypothalamic region must be borne in mind that in the last two forms unlike adrenogenital syndrome testes develop normally - in line with other signs of virilization.However, the absence of testicular atrophy does not exclude the adrenal genesis of precocious puberty, as in congenital virilizing adrenal hyperplasia testicles may be increased in connection with hyperplasia aberrant adrenal tissue in them, and in "true" sexual maturation, which may occur at the same timedisease.
When precocious puberty associated with central disorders - premature increased gonadotrophic stimulation selection 17-keto steroids does not increase to the same extent as in congenital virilizing adrenal hyperplasia, and to a much lesser extent decreased during cortisone or prednisolone test.
In some cases, when there are large dense testicles, is required of a biopsy to rule out tumors or hyperplasia aberrant adrenal tissue.