Primary Amenorrhea

How often it occurs

Types of primary amenorrhea

Why does

When to go to the doctor

Survey

Treatment

Possible complications

Prognosis and prevention

ICD-10 Code N91.0

Synonyms: amenorrhea, absence of menstruation. 

Primary amenorrhea is the initial absence of a girl’s period after 16 years. The disease can be caused by both anatomical disorders and hormonal disruptions. Symptoms vary according to the original cause of the disease. Treatment in most cases is based on hormone replacement therapy.

Primary amenorrhea differs from secondary primarily in the fact that a girl suffering from this disease has no menstrual bleeding, including menarche (first menstrual periods) in her life.

How often it occurs

The prevalence of primary amenorrhea varies, according to various sources, from 1.5 to 2%. At the same time, the disease together with its secondary form takes 10-15% in the structure of diseases associated with disorders of reproduction. This means that in 10-15% of girls and women who go to doctors because of the inability to conceive and bear a child, reveal the absence of menstruation for six months or more, or the complete absence of menstruation from the age of 16.

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Types of primary amenorrhea

There are two classifications of primary amenorrhea. First of all, there are:

  • the true form of pathology, in which there is no functional connection between the hypothalamus, pituitary, ovaries and the uterus and, as a result, there are no cyclic changes in these organs, sex hormones are not enough to make cyclic changes in the endometrium.
  • a false form of the disease in which there is a functional connection between organs and cyclical changes, but blood and rejection of the endometrium cannot for some reason go outside, for example, due to developmental defects of the cervix, vagina, and the hymen. These conditions require the intervention of a physician and are well treatable.

The second classification divides the primary amenorrhea into:

  • pathology with delayed sexual development – in this case, a delay in the development of secondary sexual characteristics is detected;
  • disease without signs of delayed sexual development – a violation of the development of secondary sexual characteristics in this case is absent.

Why does

Primary amenorrhea is a disease that is experienced at a young age. In most cases, the causes of violations leading to the emergence of a complex of symptoms are the result of malformations still in the womb.

Amenorrhea with delayed sexual development

Delayed sexual development is manifested by the lack of growth of the mammary glands and body hair of the female type at the age of more than 14 years. A girl constitutionally may not correspond to the height and weight set for her peers. When taking pictures of bones, the bone age lags to the true one too.

The main causes of primary amenorrhea in this case are two:

Malformations of the gonads

The cause of malformations with the absence of ovaries are genetic abnormalities. This congenital abnormality is called gonadal dysgenesis syndrome.

  • gonadal dysgenesis is a malformation in which a girl has no hormonally active tissue in the ovaries, which is why estrogen is insufficient in the body or they are completely absent. In the study of the chromosome set in the genetic laboratory, various chromosomal abnormalities are determined. Instead of ovarian tissue in the body, ultrasound or laparoscopy can show connective tissue strands. They do not emit hormones and there is no egg supply in them. Private and classic case of gonadal dysgenesis – Shershevsky-Turner’s chromosomal syndrome, in which the second X chromosome is missing;
  • testicular feminization syndrome is a malformation in which the girl has a male genotype (XY), but the appearance is typically feminine.

Disturbances in the hypothalamic-pituitary system

A distinctive feature of this type of amenorrhea is a decrease in the level of hormones (gonadotropins) produced in the brain. This can be detected by analysis of blood for FSH and LH.

No gonadotropins – no ovaries are stimulated – no sex hormone secretions in the ovaries – delayed sexual development – no menstruation.

Disturbances in the pituitary-hypothalamus system are divided into 2 groups:

  • functional disorders, they can be the result of malnutrition, frequent stress, infectious diseases, intoxication, many chronic diseases;
  • organic disorders – the presence of congenital abnormalities in the structure of the hypothalamic-pituitary system or tumors, due to which a complex of organs is no longer able to perform its functions. Also the cause of such violations may be the consequences of meningitis or encephalitis.

Amenorrhea without delayed sexual development

The cause of primary amenorrhea without delayed sexual development is various malformations of the genitals. For example, there may be a complete absence of the uterus (aplasia of the uterus) or ginatresia – the absence of natural openings in the hymen.

There are also developmental defects when there are ovaries and a sufficient amount of sex hormones are released, but the girl does not have a uterus or a vagina is not formed.

The absence of the uterus in the girl’s body is called Meyer-Rokitansky-Kyustner syndrome. The ovaries in this disease secrete sex hormones as usual, and outwardly the girl develops normally, in accordance with age. At the age of 16 years or more, parents usually bring a girl to the reception, concerned about the lack of menstruation. During the examination revealed the absence of the uterus; the vagina is usually short, sometimes absent, and in this case, in order for the girl to have a normal sex life, plastic surgery is required.

When to go to the doctor

Features in the absence of menstruation in young girls

When the mother and the child watching the doctor should be concerned about the absence of menstruation and assume the presence of the disease:

  • A girl is 16 years old, and her period does not come;
  • The girl is 14 years old, but there are no signs of the onset of puberty (growth of the mammary glands, growth of pubic hair, armpits);
  • Three years have passed since the growth of the mammary glands and the appearance of sexual hair growth, but there is no menstruation; 
    A noticeable lag in growth and weight indicators from the norm at this age and from peers.
  • The girl after the onset of signs of puberty at the beginning of menstruation (11–16 years old) appeared not cyclic bleeding from the genital tract, but cyclic pains in the lower abdomen.

The pains can be painful, with fever, with a feeling of pressure on the rectum, with difficulty urinating. Cyclic pain syndrome may be due to the monthly appearance of menstruation, the accumulation of blood in the uterus and fallopian tubes, and the inability to flow out during malformations of the vagina, cervix, and the hymen. After diagnosing such a condition, it is successfully amenable to surgical treatment.

Depending on the cause of the irregularity in the menstrual cycle, it can also be observed:

  • virilization of the external genital organs (unnatural enlargement of the clitoris, for example);
  • increased growth or active growth of individual limbs (with an excess of somatotropic hormone);
  • neurological symptoms (migraines, headaches, visual disturbances) – for tumors;
  • impaired hair growth (complete absence of hair in the pubic and axillary areas);
  • lower abdominal pain during menstruation (in the absence of holes in the hymen).

Shereshevsky-Turner syndrome is characterized by a number of symptoms. Among them:

  • low birth weight of the child;
  • the presence of edema of the hands and feet of lymphatic origin;
  • the presence of pterygoid folds in the neck;
  • high upper sky (gothic);
  • long distance between nipples;
  • a sharp decrease in estrogen and testosterone levels, increased levels of FSH and LH.

Survey

In the diagnosis of great importance is given to the collection of anamnesis, as well as examination of the patient.

Examination by a gynecologist. Just on examination, you can see signs of delayed sexual development and malformations of the vagina and hymen.

Vaginoscopy: examination of the vagina at full depth and cervix through a physiological hole in the hymen. It is performed in case of suspected malformations of the genital 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 using a vaginoscope: a thin tube with a video camera.

Mandatory set of surveys:

  • hormone level assessment ( testosterone, estrogen , LH and FSH );     
  • in addition, thyroid hormones, prolactin, cortisol, etc. are investigated.
  • hormonal tests (with estrogen, ACTH, progesterone, dexamethasone, etc.) – consist in maintaining the hormone in the body for several days and observing the reaction of the organism (menstrual bleeding will start or not);
  • X-ray, CT – and MRI examination of the skull to determine the status of the pituitary gland, identify the pathologies of the development of the Turkish saddle, exclude tumor processes;  
  • Laparoscopy allows you to specify the diagnosis in the presence of malformations and gonadal dysgenesis; 
  • An ultrasound examination of the pelvic organs can help identify the absence of the uterus; the accumulation of blood in the uterus or in the upper part of the vagina with malformations of the cervix or lower parts of the vagina; the absence of ovaries with follicles and their replacement by connective tissue strands with gonadal dysgenesis; a decrease in the size of the uterus and ovaries (“baby” uterus); 
  • MRI of the pelvis is performed for differential diagnosis between various forms of uterine malformations, and also helps to clarify the presence or absence of the genital organs in the pelvis. 
  • Examination of the genetics and the study of the chromosomal set in a girl will reveal the genetic cause of amenorrhea. Definition of karyotype and sex chromatin (used for reliable diagnosis of Shereshevsky-Turner syndrome);
  • Examination of the oculist and assessment of visual fields (perimetry) is carried out to exclude a pituitary tumor and intracranial hypertension.

Treatment

The disease is treated by an endocrinologist-gynecologist or gynecologist with a mandatory consultation of an endocrinologist.

When abnormalities in the pituitary-hypothalamic system are detected and sexual development is delayed, a sample with an analogue of gonadotropin-releasing hormone (GnRH) is used. If the girl’s body has a positive response to a sample with a GnRH analogue, then treatment can be non-hormonal. They begin with the use of neurotropic and vitamin complexes in order to improve the connection between the cerebral cortex, the structures of the hypothalamus and the pituitary gland. In some cases (especially if the cause of amenorrhea are nerve disorders) this has an effect. In the absence of a reaction to a sample with a GnRH analogue, hormone preparations are immediately prescribed for replacement purposes.

If a pituitary tumor is detected, it is removed. The girl with the introduction of hormones from the outside will catch up with their peers in development and the menstrual cycle will be adjusted. The prognosis for childbirth is favorable, the use of IVF is possible.

When determining genetic chromosomal abnormalities and the absence of ovaries in the girl’s body (gonadal dysgenesis), it is necessary to immediately begin hormone replacement therapy so that the girl outwardly develops in accordance with age. If there is an extra Y-chromosome in the girl’s chromosome set, then before the start of HRT, it is necessary to remove the connective tissue strands that replace the ovaries. This is done in order to prevent the growth of malignant tumors from connective tissue cords, often developing with such a chromosomal set.

With genetic chromosomal abnormalities and the absence of normal ovaries in a girl, hormone replacement therapy is indicated for a long time, until the age of middle menopause. To conceive and give birth to the girl herself, of course, can not.

Malformations of the vagina successfully operated. Girls menstruate, live sex and conceive a child after plastic surgery. When fusion of the hymen and the presence of a septum in the vagina is their dissection.

Plastic surgery to create an artificial vagina in its absence requires hospitalization in central clinics and high qualifications of the operating gynecologist.

In the absence of the uterus (Rokitansky-Kyustner syndrome), sometimes plastic surgery to lengthen the vagina is necessary for full sexual life. Ovaries in this situation work according to age, hormone replacement therapy is not indicated. Plastic surgery to create an artificial uterus is not currently used. If you want to have a baby, the woman’s egg cell is fertilized with IVF, and the surrogate mother bears the pregnancy.

Possible complications

Primary amenorrhea, which is ignored for a long time, can lead to:

  • infertility (reproductive impairment is observed in most cases, it is difficult or not at all amenable to correction, often the only way out is IVF or surrogate motherhood);
  • osteoporosis – a condition in which the destructive processes in the bone tissue prevail over the recovery processes and, as a result, the bones lose their strength; 
  • atherosclerosis – deposition of lipid plaques on the walls of blood vessels, which lead to a narrowing of the vessel lumen and, as a consequence, impaired blood flow; 
  • Obesity – violation of the hormonal balance in the body often leads to weight gain, in which diets are ineffective.

Prognosis and prevention

Due to the fact that primary amenorrhea is a consequence of mainly congenital disorders, the means of its effective prevention have not yet been developed. Much depends on the initial state of health of the mother at the time of pregnancy, her lifestyle. The prognosis for timely treatment in most cases favorable. A woman may not be able to conceive or bear a child, but the symptoms of primary amenorrhea will not affect the quality of her life.

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