Authors:
Volkov AA, endocrinologist, practical experience since 2015.
Tselmer NE, obstetrician-gynecologist, the first qualification category.
May 2019.
ICD-10 code: N91.0
Synonyms: amenorrhea, the absence of menstruation.
Primary amenorrhea - initial absence of the girl menstruation after 16 years. The disease may be due to anatomical disorders and hormonal disruptions. Symptomatology varies depending on the underlying cause of the disease. Treatment in most cases is based on hormone replacement therapy.
Primary amenorrhea is different from the secondary in the first place that the girl suffering from this disease, menstrual bleeding, including menarche (first period), it was never in my life.
How common
The prevalence of primary amenorrhea vary according to various sources of 1.5 to 2%. In this disease, together with its secondary form it occupies 10-15% in the structure of diseases associated with disorders of reproduction. This means that 10-15% of the girls and women who come to doctors due to the inability to conceive and bear baby reveal the absence of menstruation for six months or more, or complete absence of menstrual periods from 16 years.
Types of primary amenorrhea
There are two classifications of primary amenorrhea. First release:
- true shape of pathologies in which there is no functional connection between the hypothalamus, pituitary, ovaries, and uterus, and as consequently, there is no cyclical changes in these organs, hormones for cyclic changes of the endometrium enough.
- a false form of the disease, in which the functional relationship between the authorities there and cyclical changes have, however, blood and rejects the endometrium for whatever reason can not go outside, for example due to defects of the cervix, vagina, hymen. These conditions require the intervention of a doctor, and respond well to treatment.
The second classification divides primary amenorrhea at:
- pathology delayed sexual development - in this case, a delay is detected in the development of secondary sexual characteristics;
- signs of disease without delay sexual development - impaired development of secondary sexual characteristics in this case absent.
why is there
Primary amenorrhea - a disease encountered at a young age. In most cases, the causes of disorders that lead to the appearance of symptoms of the complex are the result of defects in the womb.
Amenorrhea at a delay of sexual development
Delayed puberty manifested lack of breast growth and body hair on the female type aged more than 14 years. Girl constitutionally can not meet height and weight, the position of her peers. In carrying out bone pictures also revealed the backlog of bone age to true.
The major causes of primary amenorrhea in this case two:
Malformations of the gonads
Cause birth defects to the absence of ovaries are genetic abnormalities. This congenital abnormality called gonadal dysgenesis syndrome.
- gonadal dysgenesis - a malformation in which the ovaries in girls is not hormonally-active tissue, which is why estrogen in the body is insufficient or they are completely absent. In the study of chromosomes in the genetic laboratory identifies the different chromosomal abnormalities. Instead of ovarian tissue in the body by ultrasound or laparoscopy can be seen connective tissue bands. Hormones they release eggs and stock are not available. Private and classic case gonadal dysgenesis - Chromosome-Turner syndrome Shershevskii at which no second X-chromosome;
- testicular feminization syndrome - a developmental abnormality in which a girl's male genotype (XY), but it looks typically feminine.
Disturbances in the hypothalamic-pituitary system
A distinguishing feature of this type of amenorrhea is to reduce the level of hormones (gonadotropins) produced in the brain. This can be detected through a blood test for FSH and LH.
No gonadotropins - not the ovaries are stimulated - no release of sex hormones in the ovaries - delayed sexual development - lack of menstruation.
Disturbances in the system of the hypothalamus-pituitary-divided into 2 groups:
- functional disorders, they may be the result of malnutrition, frequent stress, infections, intoxication, many chronic diseases;
- organic disorders - the presence of congenital anomalies in the structure of the hypothalamic-pituitary system, or tumors, due to which complex organs are no longer able to function. Also, the cause of such disorders can be the consequences of meningitis or encephalitis.
Amenorrhea without delay of sexual development
The reason for primary amenorrhea without delay sexual development - various malformations of sexual organs. For example, there may be a complete absence of the uterus (uterine aplasia) or ginatreziya - the lack of natural openings in the hymen.
Also, there are malformations, when the ovaries have and allocate a sufficient amount of sex hormones, but the girls do not have a uterus or vagina is formed.
The absence of the uterus in the body of the girl called syndrome of Mayer-Rokitansky-Otto Küstner. Ovaries with this disease excrete hormones in normal mode, and apparently the girl is developing normally, according to age. At the age of 16 years and more parents usually bring the girl on reception, worried about her lack of menstruation. The examination revealed the absence of the uterus; the vagina is usually short, sometimes missing, and in this case to ensure that she could lead a normal sexual life, plastic surgery is required.
When going to the doctor
Especially in the absence of menstruation in young girls
When the mother of the child and observe the doctor should be concerned about the lack of monthly and suggest the presence of the disease:
- A girl of 16 years, and have not come monthly;
- A girl of 14 years, but there are no signs of the onset of puberty (breast growth, pubic hair growth, armpits);
- It's been 3 years since the growth of the mammary glands and the appearance of sexual body hair, but no menses;
Noticeable growth retardation, weight indicators from the norm in this age and from their peers. - The girl, after the timely appearance of signs of puberty at the age of onset of menstruation (11-16 years) were not cyclical bleeding from the genital tract, and pain in the lower cyclic stomach.
Pain may be arching, with increasing temperature, with a sense of feeling of pressure on the rectum, with difficult urination. Cyclic pain may be due to the advent of monthly menstruation, blood accumulation in the uterus and fallopian tubes and the lack of opportunity to pour out at the evils of the vagina, cervix, and the virgin hymen. After the diagnosis of this condition is successfully amenable to surgical treatment.
Depending on the cause of the disturbance in the menstrual cycle, can also be observed:
- virilization external genitalia (unnatural enlargement of the clitoris, for example);
- increase in growth or growth of individual active limb (with excess growth hormone);
- neurological symptoms (migraines, headaches, visual disturbances) - in tumors;
- violation of body hair (complete absence of hair in the pubic and axillary areas);
- abdominal pain during menstruation (in the absence of openings in the hymen).
Turner's syndrome is characterized by a number of signs. Among them:
- low weight of the baby's body at birth;
- presence of edema of the hands and feet of lymphatic origin;
- pterygoid presence of folds in the neck;
- high upper sky (Gothic);
- a large distance between the teats;
- a sharp decline in estrogen and testosterone, increased FSH and LH.
survey
In the diagnosis of the importance placed on medical history and examination of the patient.
Survey of the gynecologist. Just for the examination one can see signs of delayed sexual development and malformations of the vagina and the hymen.
Vaginoscopy: examination of the vagina and the entire depth of the cervix through a physiological opening in the hymen. It is performed in cases of suspected congenital malformations of the sexual organs. The procedure is painless for the girl, does not damage the natural hymen can be performed on an outpatient basis. Inspection is carried out by Vaginoscopy: a thin tube with a video camera.
Mandatory complex surveys:
- hormonal level score (level testosterone, estrogen, LH and FSH);
- further investigated thyroid hormones, prolactin, hydrocortisone, and others.
- hormonal tests (with estrogen, ACTH, prgogesteronom, dexamethasone, etc.) - hormone are administered in a the body for a few days and watching the reaction of the body (menstruation begins, or no);
- X-ray, CT- and MRI-obsledovanie skull to determine the status of pituitary, detecting pathologies of the sella turcica, elimination of tumor processes;
- Laparoscopy It allows you to specify the diagnosis in the presence of malformations and gonadal dysgenesis;
- Ultrasound study pelvic organs can help to identify the absence of the uterus; accumulation of blood in the uterus or vagina in the upper section with the vices of the cervix or vagina lower divisions; absence of ovarian follicles and their replacement by connective cords with gonadal dysgenesis; reduction of the uterus and ovaries ( "child" womb) .;
- MRI of the pelvic performed for differential diagnosis between different forms of uterine malformations, and also helps to clarify the presence or absence of the genital organs in the pelvis.
- Inspection of genetics and the study of chromosomes, the girl will identify genetic cause of amenorrhea. Determination karyotype and sexual chromatin (used for accurate diagnosis of Turner syndrome);
- Ophthalmologist examination and evaluation of the visual field (perimetry) is carried out to exclude pituitary tumor and intracranial hypertension.
Treatment
Disease cures endocrinologist, gynecologist or gynecologist with a mandatory consultation of the endocrinologist.
When detecting abnormalities in the hypothalamic-pituitary system and delay of sexual development is used to sample analog of gonadotropin-releasing hormone (GnRH). If there is a positive response to the test with an analogue of GnRH in the body of the girl, the treatment may be a non-hormonal. Beginning with the application of neurotrophic and vitamin complexes in order to improve communication between the cerebral cortex, the hypothalamus and pituitary gland structures. In some cases (especially when the cause of amenorrhea is a nerve disorder) it has an effect. In the absence of reaction to a sample GnRH analogue are assigned immediately hormonal preparations with the aim of substitution.
In identifying pituitary tumor performed its removal. Girl with the introduction of hormones from the outside will catch up with their peers in the development and the menstrual cycle will be adjusted. Forecast for procreation favorable possible to use IVF.
When determining chromosomal abnormalities and genetic absence of ovaries in girls body (gonadal dysgenesis) you must immediately begin hormone replacement therapy, the girl apparently was developed in accordance with the age. If the chromosome set in the girls present an extra Y-chromosome, before starting HRT it is necessary to remove the connective tissue bands that replace ovaries. This is done in order to prevent the growth of malignant tumors of connective strands, often evolving at this chromosome set.
When genetic chromosome abnormalities and the absence of normal ovaries in girls hormone replacement therapy is indicated for a long time, up to the age of the average menopause. Conceive and give birth to the girl herself, of course, can not.
Malformations of the vagina successfully operated on. Girls menstruate, are sexually active and conceive a child after plastic surgery. When imperforate hymen and the presence of the partition of the vagina is carried their dissection.
Plastic surgery to create an artificial vagina in its absence in the central requires hospitalization clinics and high qualification of Operating gynecologist.
In the absence of the uterus (Rokitansky syndrome-Otto Küstner) is sometimes also necessary for plastic operation to complete the vaginal lengthening sexual life. Ovaries in this situation work in accordance with the age, hormone replacement therapy is not indicated. Plastic surgery to create an artificial uterus is not currently used. If you wish to have a child egg female fertilized using IVF and surrogate mother to bear pregnancy.
possible complications
Primary amenorrhea, whose presence is ignored for a long time may lead to:
- infertility (reproductive disorders observed in the majority of cases, it is difficult or not at all amenable to be corrected, often the only way - IVF or surrogacy);
- osteoporosis - a condition in which the destructive processes in the bone tissue precedence over the recovery process and, as a result, the bones lose their strength;
- atherosclerosis - deposition in the vessel wall the lipid plaques that lead to narrowing of the lumen of the vessel and, as a consequence, disruption of blood flow;
- obesity - hormonal imbalance in the body often leads to weight gain, at which the ineffective diets.
Prediction and prevention
Due to the fact that the primary amenorrhea - a consequence mainly of congenital disorders, the means of its effective prevention has not yet been developed. Much depends on the initial state of health of the mother at the time of pregnancy, her way of life. The prognosis for timely treatment in most cases favorable. A woman may not be able to independently conceive or bear a child, but the symptoms of primary amenorrhea will not affect the quality of her life.
