congenital adrenal hyperplasia

Congenital adrenal hyperplasia - a pathological condition caused by virilizing congenital adrenal hyperplasia, accompanied, as a rule, lack of body gluco-corticoids and androgen excess.

Patients with adrenal syndrome at birth is usually characterized by a large weight and body length, but in the 11 - 12 years of bone growth zones such children are closed, and patients remain stunted with exaggerated masculine type of figure: the shoulders significantly wider pelvis, torso, large, short limbs. Early, sometimes as early as the period from 3 to 7 years, the girls show signs of virilization: reduced voice, facial and body hair appears, growing male pattern; boys with adrenal syndrome in this age of so-called false note early puberty. Sometimes patients have periods of sharp increase in body temperature, due to release into the blood of an excess amount of one of the adrenal androgens - etioholanolona.

The most common form of virility develops adrenogenital syndrome (up to 90% of patients), in which the adrenal glands produce excessive amounts of androgens and glucocorticoids products and mine-ralokortikoidov corresponds to the lower limit of normal. In severe forms of embodiment of virility syndrome in a fetus with a genetic female sex under the influence of adrenal androgens correctly formed vulva, acquire resemblance to the male. Error in determining the sex of children entails serious health and social consequences. In the case of lung flow virility form syndrome girl born with a well-formed external genitalia, and virilization symptoms occur during puberty.

When adrenogenital syndrome solteryayuschey form an excess of androgens produced by the adrenal glands combined with significantly reduced the formation of glucocorticoids and mineralocorticoid. Clinically solteryayuschaya form of the syndrome manifests signs of virilization and symptoms of adrenal insufficiency - nausea, vomiting, diarrhea, decreased blood pressure. In the absence of proper treatment of such children die in the first months of life, and the symptoms of adrenal insufficiency is often mistakenly regarded as a manifestation of dyspepsia or pilorospazm.

In hypertensive form adrenogenital syndrome adrenal glands to synthesize and excess androgens and mineralocorticoids. This form of the syndrome is characterized by a combination of virilization symptoms with early emerging resistant hypertension, resulting in the absence of proper treatment for cerebrovascular accidents, and renal failure.

All forms adrenogenital syndrome may develop in a child with a genetic male sex. The diagnosis in this case is very complicated. Clinically, the disease is characterized by symptoms of false precocious puberty: the penis increases in size, body hair appears early pubic hair and armpits, but the testes remain small. Growth patients remains low. Depending on the form of a syndrome or supplemented clinical picture symptoms of adrenal insufficiency, or hypertension, or intermittent fever.

Diagnosis is based on clinical examination and X-ray examination, determination of sex chromatin, detection of increased urinary excretion 17-keto steroids. All newborns with the wrong structure of the external genitalia should be shown endocrinologist; if the external genitalia look like men, but the eggs are not detected, 5 -8 th day after the birth of the child should be examined sex chromatin and, if possible, urinary excretion of 17-keto steroids. Compliance with these requirements will provide early treatment of patients with adrenal syndrome, which makes it possible to harmonious physical and sexual development of the child.

Treatment of all forms of the syndrome is glucocorticoid replacement therapy when administered additionally form solteryayuschey mineralocorticoid and sodium chloride at a hypertonic sodium chloride in the form of restricted diet. In some cases, produce a plastic surgery on the external genitals.

When virility form feminization syndrome takes place a child with a genetic female sex against the background of hormone replacement therapy, so if sex at birth was defined incorrectly, restore true sex; if due to late treatment to the doctor a true floor restoration is no longer possible, after castration and surgical correction additionally prescribe male hormones - androgens.

Forecast solteryayuschey form adrenogenital syndrome without treatment adverse, hypertension shape - very serious. With proper treatment, which should be conducted under the supervision of an endocrinologist, patients with adrenal syndrome remain disabled.