Congenital adrenal hyperplasia - Causes, Symptoms and Treatment .MF .

August 12, 2017 17:52 | Women's Diseases

Forms adrenogenital syndrome:

In clinical practice, depending on the degree of C21-hydroxylase deficiency and, consequently, the degree of hyperandrogenism isolated classical form of congenital adrenogenital syndrome and mild forms, also called non-classical (pubertal and post-pubertal form).Excessive release of adrenal androgens inhibits the release of gonadotropins, resulting in a violation of the growth and maturation of follicles in the ovaries.

classical form of congenital syndrome adrenogenital

hyperproduction of androgens prenatally begins with the start of hormone adrenal function - 9-10 th week of fetal life.Under the influence of an excess of androgens impaired sexual differentiation of the fetus of the female sex chromosome.During this period of intrauterine life gonads already have a clear sexual identity, internal sex organs are also inherent in the structure of the female sex, and the external genitalia are in the formative stage.Of the so-called neutral type is the formation of the

female phenotype.Under the influence of an excess of testosterone occurs virilization of the external genitalia of the female fetus: genital tubercle increases, becoming penisoobrazny clitoris merge labiosakralnye folds, getting kind of scrotum, urogenital sinus is not divided into the urethra and the vagina, and persist and opens under penisoobraznym clitoris.Such virilization leads to incorrect determination of sex at birth.Since the gonads are female structure (ovaries), this pathology has received another name - a false female hermaphroditism.Hyperproduction of androgens in utero causes adrenal hyperplasia;this form adrenogenital syndrome called the classical form of congenital adrenal hyperplasia.

These children are patient pediatric endocrinologists, tactics of their management and treatment is developed, which allows time to carry out a surgical sex reassignment and direct the further development of the female type.

contingent seeking to gynecologists, endocrinologists up patients with advanced forms of adrenogenital syndrome.

pubertal form adrenogenital syndrome (congenital adrenal hyperplasia)

In this form of congenital deficiency syndrome adrenogenital C21-hydroxylase manifested in puberty, during physiological gain hormonal function of the adrenal cortex, the so-called period of adrenarche, time 2-3year anticipating menarche - the onset of menstruation.Physiological increase in androgen secretion in this age of puberty provides a "growth spurt" and the appearance of the sexual body hair.

The clinical picture is characterized by a late menarche, the first menstrual period comes in 15-16 years, whereas in the population - in 12-13 years.The menstrual cycle is irregular or unstable with a tendency to oligomenorrhea.The interval between periods of 34-45 days.

Hirsutism is pronounced: rod hair growth is marked by a white line of the abdomen, upper lip, peripapillary fields, inner thighs.There have been multiple acne as a festering hair follicles and sebaceous glands, the skin is oily, porous.

Girls have a high growth figure has expressed mild male or intersex traits: broad shoulders, narrow hips.

hypoplastic mammary glands.

main complaints that lead patients to the doctor are hirsutism, acne and erratic menstrual cycle.

postpubertatnom form adrenogenital syndrome

Clinical manifestations manifest at the end of the second decade of life, often after a spontaneous abortion in early pregnancy, developing pregnancy or induced abortion.

Women celebrate menstrual disorders by type extension intermenstrual period, the trend in delays and oskudneniyu monthly.

Since hyperandrogenism develops later and is a "soft" character, hirsutism expressed slightly: scant body hair linea alba, peripapillary fields, above the upper lip, legs.

Mammary glands are developed according to age, body type has a purely female type.

should be noted that patients with adrenal syndrome patients are not detected metabolic abnormalities characteristic of polycystic ovarian syndrome.

reasons adrenogenital syndrome

The main cause is a congenital deficiency of the enzyme C21-hydroxylase involved in the synthesis of androgens in the adrenal cortex.Average education and the content of this enzyme provides a gene localized in the short arm of one of a pair of 6th chromosomes (autosomes).Inheritance of this disease is an autosomal recessive character.In support of the abnormal gene, this pathology can manifest itself, it manifests in the presence of defective genes in both autosomes 6th pair.

Diagnostics adrenogenital syndrome

addition to medical history and phenotypic data (body, body hair, skin, breast development), at diagnosis have a hormonal studies crucial.

When adrenogenital syndrome synthesis of steroids violated at the stage of 17 SNPs.Therefore, hormonal signs of a rise in blood 17 SNPs, as well as DHEA and DHEA-S - testosterone precursors.For diagnostic purposes, it can be used in the definition of 17-KS in urine - androgen metabolites.

most informative is to increase the level of 17 SNPs and DHEA-S in the blood that is used for the differential diagnosis with other endocrine disturbances, manifested symptoms of hyperandrogenism.Determination of ED-17, T, DHEA, DHEA-S 17 in the blood and in urine-KS conducted before and after the test with glucocorticoids, such as dexamethasone.The reduction of these steroids in the blood and urine of 70-75% indicates the origin of adrenal androgens.

Diagnostic significance and ultrasound of the ovaries.Since adrenogenital syndrome occurs anovulation, ehoskopicheski note the presence of follicles of varying degrees of maturity, do not reach the preovulatory size, the so-called multifollikulyarnye ovaries, ovarian dimensions may be slightly more than the norm.However, unlike in ovarian polycystic ovarian syndrome are not increased in volume and no stroma typical arrangement of this pathology small follicles as "necklace" under the capsule of the ovary.

diagnostic importance is the measurement of basal body temperature, which is characterized by a stretched first phase of the cycle and a shortened second phase of the cycle (failure of the corpus luteum).

Differential diagnosis adrenogenital syndrome

differential diagnostic signs adrenogenital syndrome and polycystic ovary syndrome

Indicators

AGS

PCOS

Testosterone

promoted

DHEA, DHEA-S

increased

normal or elevated

17 SNPs

promoted

normally

LH / FSH

Less than 2

Over 2,5

Test with dexamethasone

The decline in

75%

on25%

Test with ACTH

Positive

Negative

basal temperature

IDLF

Monophasic

The degree of hirsutism

I-III

I-II

BMI

24-26

& gt; 26

morphotypes

intersex

Female

generative function

Miscarriage in the 1st trimester

Primary infertility

Menstrual function

unstable cycle with a tendency to oligomenoree

oligo-amenorrhea, MQM

ovaries

follicles of different stages of maturity, the amount of up to 6 cm 3

increased due to the stroma, the follicles with a diameter up to 5-8 mm, subcapsular, volume & gt;9 cm3

Treatment adrenogenital syndrome

To correct hormonal function of the adrenal glucocorticoid medications are used.

Currently administered dexamethasone at a dose of 0.5-0.25 mg.per day for control of blood androgens and their metabolites in urine.The effectiveness of therapy indicate the normalization of the menstrual cycle, the emergence of ovulatory cycles, which is recorded by measuring basal temperature data echoscopy endometrium and ovary in the middle of the cycle, the onset of pregnancy.In the latter case, glucocorticoid therapy is continued in order to avoid interruption of pregnancy before the 13th week - the period of formation of the placenta, which provides the necessary level of hormones for normal fetal development.

During the first weeks of pregnancy should be closely monitored: up to 9 weeks - measurement of basal temperature every two weeks - ultrasonography to detect increased tone of the myometrium and ehoskopicheskih signs of detachment of the ovum.When spontaneous abortions in the anamnesis estrogensoderzhaschie prescribe medications to improve blood supply to the developing embryo: mikrofollin (ethinyl estradiol) by 0.25-0.5 mg per day or proginova 1-2 mg per day under the supervision of the state of women and the presence of her complaints of pain in the lowerabdomen, bleeding from the genital tract.

Currently, treatment of miscarriage when adrenogenital syndrome in I-II trimester efficient use of natural progesterone analogue - duphaston on 20-40-60 mg per day.As derivative dydrogesterone, it has no androgenic effect, in contrast to a number of progestogens norsteroidnogo that show signs of virilization of the mother and masculinization in female fetuses.In addition, the use of duphaston effective in the treatment of functional cervical incompetence, often accompanying congenital adrenal hyperplasia.

In the absence of pregnancy (ovulation or failure of the corpus luteum, registered according to the basal body temperature) is recommended during therapy with glucocorticoids spending stimulation clomiphene ovulation by the standard pattern: from the 5th to the 9th or the 3rd to the 7th daycycle of 50-100 mg.

In cases when a woman is not interested in pregnancy, and the main complaint is hirsutism, pustular rash or irregular menstruation, it is recommended preparations containing estrogen and antiandrogen therapy (see. Treatment of hirsutism in PCOS).The most frequently prescribed drug Diane-35.A more effective against hirsutism on the background of Diana administered in the first 10-12 days of his receiving cyproterone acetate at a dose of 25-50 mg (drug androkur).The use of these drugs within 3 months 6 gives pronounced effect.Unfortunately, after taking the drugs hyperandrogenism symptoms reappear, as the cause of the disease, this therapy does not eliminate.It should also be noted that the use of glucocorticoids normalize ovarian function has little effect on reduction of hirsutism.Antiandrogen effect have oral contraceptives, which include the latest generation of progestins (desogestrel, gestodene, norgestimate).From veroshpiron effective non-hormonal agents, which in a dose of 100 mg daily for 6 months or more reduces hirsutism.

Late postpubertatnom form adrenogenital syndrome, when expressed mild skin manifestations of hyperandrogenism and unstable menstrual cycle without the long delays, the patient, if they are not interested in pregnancy, hormone replacement therapy is not needed.

When using hormonal contraceptives are preferred low-dose monophasic (Mersilon) and three-phase with the progestin component of the latest generation (desogestrel, gestodene, norgestimate), which have no androgenic effect.Long-term use of single-phase hormonal contraceptives containing 30 mcg ethinyl estradiol or type marvelona Femoden (more than a year without interruption) can cause gipertormozhenie ovarian function and amenorrhea due to hypogonadotropic disorders rather than hyperandrogenism.