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General Gynecology Informations

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Primary Amenorrhea

 

Amenorrhea (absence of menses) results from dysfunction of the hypothalamus, pituitary, ovaries, uterus, or vagina.
It is often classified as either primary (absence of menarche by age 16) or secondary (absence of menses for more than three cycle intervals or six months in women who were previously menstruating).

Primary amenorrhea is usually the result of a genetic or anatomic abnormality. Common etiologies of primary amenorrhea:

Chromosomal abnormalities causing gonadal dysgenesis: 45 percent
Physiologic delay of puberty: 20 percent
Müllerian agenesis: 15 percent
Transverse vaginal septum or imperforate hymen: 5 percent
Absent production of gonadotropin-releasing hormone (GnRH) by the hypothalamus: 5 percent
Anorexia nervosa: 2 percent
Hypopituitarism: 2 percent

Causes of Primary and Secondary Amenorrhea

Abnormality Causes
Pregnancy
Anatomic abnormalities
Congenital abnormality in Mullerian development Isolated defect
Testicular feminization syndrome
5-Alpha-reductase deficiency
Vanishing testes syndrome
Defect in testis determining Factor
Congenital defect of urogenital sinus development Agenesis of lower vagina
Imperforate hymen
Acquired ablation or scarring of the endometrium Asherman’s syndrome
Tuberculosis
Disorders of hypothalamic-pituitary ovarian axis
Hypothalamic dysfunction
Pituitary dysfunction
Ovarian dysfunction

Causes of Amenorrhea due to Abnormalities in the Hypothalamic-Pituitary-Ovarian Axis
Abnormality Causes
Hypothalamic dysfunction Functional hypothalamic amenorrhea
Weight loss, eating disorders
Exercise
Stress
Severe or prolonged illness
Congenital gonadotropin-releasing hormone deficiency
Inflammatory or infiltrative diseases Brain tumors - eg, craniopharyngioma
Pituitary stalk dissection or compression
Cranial irradiation
Brain injury - trauma, hemorrhage, hydrocephalus
Other syndromes - Prader-Willi, Laurence-Moon-Biedl
Pituitary dysfunction Hyperprolactinemia
Other pituitary tumors- acromegaly, corticotroph adenomas (Cushing's disease)
Other tumors - meningioma, germinoma, glioma
Empty sella syndrome
Pituitary infarct or apoplexy
Ovarian dysfunction Ovarian failure (menopause)
Spontaneous
Premature (before age 40 years)
Surgical
Other Hyperthyroidism
Hypothyroidism
Diabetes mellitus
Exogenous androgen use

Diagnostic evaluation of primary amenorrhea :

Step I: Clinical history evaluation:
Signs of puberty may include a growth spurt, absence of axillary and pubic hair, or apocrine sweat glands, or absence of breast development. Lack of pubertal development suggests ovarian or pituitary failure or a chromosomal abnormality.
Family history of delayed or absent puberty suggests a familial disorder.
Short stature may indicate Turner syndrome or hypothalamic-pituitary disease.
Poor health may be a manifestation of hypothalamic-pituitary disease. Symptoms of other hypothalamic-pituitary disease include headaches, visual field defects, fatigue, or polyuria and polydipsia.
Virilization suggests polycystic ovary syndrome, an androgen-secreting ovarian or adrenal tumor, or the presence of Y chromosome material.
Recent stress, change in weight, diet, or exercise habits; or illness may suggest hypothalamic amenorrhea.
Heroin and methadone can alter hypothalamic gonadotropin secretion.

Step II: Physical examination
An evaluation of pubertal development should include current height, weight, and arm span (normal arm span for adults is within 5 cm of height) and an evaluation of the growth chart.
Breast development should be assessed.
The genital examination should evaluate clitoral size, pubertal hair development, intactness of the hymen, depth of the vagina, and presence of a cervix, uterus, and ovaries. If the vagina can not be penetrated with a finger, rectal examination may allow evaluation of the internal organs. Pelvic ultrasound is also useful to determine the presence or absence of müllerian structures.
The skin should be examined for hirsutism, acne, striae, increased pigmentation, and vitiligo.
Classic physical features of Turner syndrome include low hair line, web neck, shield chest, and widely spaced nipples.

Step III: Basic laboratory testing
If a normal vagina or uterus are not obviously present on physical examination, pelvic ultrasonography should be performed to confirm the presence or absence of ovaries, uterus, and cervix. Ultrasonography can be useful to exclude vaginal or cervical outlet obstruction in patients with cyclic pain.

Uterus absent

(1) If the uterus is absent, evaluation should include a karyotype and serum testosterone.
These tests should distinguish abnormal müllerian development (46, XX karyotype with normal female serum testosterone concentrations) from androgen insensitivity syndrome (46, XY karyotype and normal male serum testosterone concentrations).
(2) Patients with 5-alpha reductase deficiency also have a 46, XY karyotype and normal male serum testosterone concentrations but, in contrast to the androgen insensitivity syndrome which is associated with a female phenotype, these patients undergo striking virilization at the time of puberty (secondary sexual hair, muscle mass, and deepening of the voice).

Uterus present.
For patients with a normal vagina and uterus and no evidence of an imperforate hymen, vaginal septum, or congenital absence of the vagina. Measurement of serum beta human chorionic gonadotropin to exclude pregnancy and of serum FSH, prolactin, and TSH.
A high serum FSH concentration is indicative of primary ovarian failure. A karyotype is then required and may demonstrate complete or partial deletion of the X chromosome (Turner syndrome) or the presence of Y chromatin. The presence of a Y chromosome is associated with a higher risk of gonadal tumors and makes gonadectomy mandatory.
A low or normal serum FSH concentration suggests functional hypothalamic amenorrhea, congenital GnRH deficiency, or other disorders of the hypothalamic-pituitary axis. Cranial MR imaging is indicated in most cases of hypogonadotropic hypogonadism to evaluate hypothalamic or pituitary disease.
Cranial MRI is recommended for all women with primary hypogonadotropic hypogonadism, visual field defects, or headaches.
Serum prolactin and thyrotropin (TSH) should be measured, especially if galactorrhea is present.
If there are signs or symptoms of hirsutism, serumtestosterone and dehydroepiandrosterone sulfate (DHEA-S) should be measured to assess for an androgen-secreting tumor.
If hypertension is present, blood tests should be drawn for evaluate for CYP17 deficiency.

Treatment

Treatment of primary amenorrhea is directed at correcting the underlying pathology; helping the woman to achieve fertility, if desired; and prevention of complications of the disease.
Congenital anatomic lesions or Y chromosome material usually requires surgery. Surgical correction of a vaginal outlet obstruction is necessary before menarche, or as soon as the diagnosis is made after menarche.
Ovarian failure requires counseling about the benefits and risks of hormone replacement therapy.
Polycystic ovary syndrome is managed with measures to reduce hirsutism, resume menses, and fertility and prevent of endometrial hyperplasia, obesity, and metabolic defects.
Functional hypothalamic amenorrhea can usually be reversed by weight gain, reduction in the intensity of exercise, or resolution of illness or emotional stress. For women who want to continue to exercise, estrogen-progestin replacement therapy should be given to those not seeking fertility to prevent osteoporosis. Women who want to become pregnant can be treated with gonadotropins or pulsatile GnRH.
Hypothalamic or pituitary dysfunction that is not reversible (eg, congenital GnRH deficiency) is treated with either exogenous gonadotropins or pulsatile GnRH if the woman wants to become pregnant.

 

Related articles
Secondary Amenorrhea

 
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