For primary and secondary sexual characteristics, hormones are responsible, some of which are produced in the adrenal glands. There is an inborn disease characterized by dysfunction of these endocrine glands and excessive release of androgens. Excess of male sex hormones in the body leads to significant changes in the structure of the body.
Adrenogenital Syndrome - Causes
The pathology under consideration arises from a congenital genetic mutation inherited. It is rarely diagnosed, the incidence of adrenogenital syndrome is 1 case per 5000-6500. The change in the genetic code provokes an increase in the size and deterioration of the adrenal cortex. The production of special enzymes that participate in the production of cortisol and aldosterone is reduced. Their deficiency leads to an increase in the concentration of male sex hormones.
Adrenogenital syndrome - classification
Depending on the degree of adrenocortical growth and the severity of symptoms, the described disease exists in several variations. Forms of adrenogenital syndrome:
- salt-losing;
- viril (simple);
- post-pubertal (nonclassical, atypical).
Adrenogenital syndrome - salt form
The most common type of pathology, which is diagnosed in newborns or children of the first year of life. With the salt-losing form of adrenogenital syndrome, the hormonal balance is disturbed and the function of the adrenal cortex is inadequate. This type of disease is accompanied by too low concentration of aldosterone. It is necessary to maintain the water-salt balance in the body. This adrenogenital syndrome provokes a violation of cardiac activity and a jump in blood pressure. This occurs against the background of accumulation of salts in the kidneys.
Adrenogenital syndrome is a viril form
A simple or classical variant of the course of pathology is not accompanied by phenomena of adrenal insufficiency. The described adrenogenital syndrome (ACS viril form) leads only to changes in the external genitalia. This type of disease is also diagnosed at an early age or immediately after childbirth. Inside the reproductive system remains normal.
Postpubertate form of adrenogenital syndrome
This type of disease is also called atypical, acquired and non-classical. Such adrenogenital syndrome occurs only in women who have an active sexual life. The cause of the development of pathology can be both a congenital mutation of genes, and a tumor of the adrenal cortex . This disease is often accompanied by infertility, so without adequate therapy, adrenogenital syndrome and pregnancy are incompatible concepts. Even with successful conception, the risk of miscarriage is high, the fetus is killed even in the early stages (7-10 weeks).
Adrenogenital syndrome - symptoms
The clinical picture of the described genetic anomaly corresponds to the age and form of the disease. Adrenogenital syndrome in newborns can sometimes not be determined, because of what the sex of the baby can identify incorrectly. Specific signs of pathology become visible from 2-4 years, in some cases it manifests later, in adolescence or maturity.
Adrenogenital syndrome in boys
With salt-losing form of the disease, symptoms of water-salt balance disturbance are observed:
- diarrhea;
- severe vomiting;
- low blood pressure;
- convulsions;
- tachycardia;
- weight loss.
A simple adrenogenital syndrome in male children has the following symptoms:
- enlarged penis;
- excessive skin pigmentation of the scrotum;
- dark epidermis around the anus.
Newborn boys are rarely diagnosed because the clinical picture at an early age is poorly expressed. Later (from 2 years) adrenogenital syndrome is more noticeable:
- growth of hair on the body, including the genitals;
- low, gruff voice;
- hormonal acne ( acne vulgaris);
- masculinization;
- acceleration of bone formation;
- short stature.
Adrenogenital syndrome in girls
To define the considered illness in female babies is simpler, it is accompanied by such symptoms:
- hypertrophic clitoris, which looks very much like a penis;
- large labia, look like a scrotum;
- the vagina and urethra are combined into a urogenital sinus.
Against the background of the signs of newborns, girls are sometimes mistaken for boys and brought up in accordance with the wrong sex. Because of this, in school or adolescence, these children often have psychological problems. Inside the reproductive system of the girl completely corresponds to the female genotype, that's why she feels herself a woman. The child begins internal contradictions and difficulties with adaptation in society.
After 2 years, congenital adrenogenital syndrome is characterized by the following symptoms:
- premature growth of pubic hair and armpits;
- short legs and arms;
- muscularity;
- appearance of facial hair (by the age of 8);
- a man's physique (broad shoulders, narrow pelvis);
- absence of growth of mammary glands;
- low growth and massive torso;
- rude voice;
- acne disease;
- late onset of menstruation (no earlier than 15-16 years);
- unstable cycle, frequent delays in menstruation;
- amenorrhea or oligomenorrhea;
- infertility;
- blood pressure jumps;
- excessive pigmentation of the epidermis.
Adrenogenital syndrome - diagnosis
Instrumental and laboratory studies help to identify hyperplasia and dysfunction of the adrenal cortex. To diagnose adrenogenital congenital syndrome in infants, a thorough examination of the genitals and computed tomography (or ultrasound) is performed. A hardware examination can detect ovaries and uterus in girls with male genital organs.
To confirm the alleged diagnosis, a laboratory analysis for adrenogenital syndrome is carried out. It includes the study of urine and blood on the content of hormones:
- 17-OH-progesterone;
- aldosterone;
- cortisol;
- 17-ketosteroids.
Additionally assigned:
- biochemistry ;
- clinical blood test;
- general examination of urine.
Treatment of adrenogenital syndrome
It is impossible to get rid of the examined genetic pathology, but its clinical manifestations can be eliminated. Adrenogenital syndrome - clinical recommendations:
- Lifetime reception of hormonal drugs. To normalize the work of the adrenal cortex and control the endocrine balance, you will need to constantly drink glucocorticoids. The preferred option is Dexamethasone. Dosage is calculated individually and ranges from 0.05 to 0.25 mg per day. With salt-losing form of the disease, it is important to take mineral corticoids in order to maintain the water-salt balance.
- Correction of appearance. Patients with the described diagnosis are recommended to have vaginal plastic, clitorectomy and other surgical interventions to ensure that the genitals have the correct shape and size.
- Regular consultations with a psychologist (on request). Some patients need help in social adaptation and acceptance of themselves as a full-fledged person.
- Stimulation of ovulation. Women who want to become pregnant need to undergo a course of special medications that ensure the correction of the menstrual cycle and the suppression of androgen production. Glucocorticoids are taken during the entire period of gestation.