Amenorrhea

Symptoms of Primary and Secondary Amenorrhea

File photo | Credit: NICHDOpens in new window Amenorrhea is defined as the complete absence or anomalous cessation of menstrual cycles in females during reproductive years. It’s classified as primary and secondary according to its occurrence before or after menarche, respectively (The Practice Committee of American Society for Reproductive Medicine, 2008).

In athletes, amenorrhea is much more common than in non-exercising controls with prevalence reported from 3 to 69 % compared to 2 – 5 % in the general population.

Just in three situations amenorrhea is considered physiological: 1) during pregnancy, 2) lactation, and 3) menopause. In all other situations, amenorrhea can be due to many pathological conditions and merits a careful assessment.

• Amenorrhea is defined primary when menarche does not occur by the age of 16 years in a girl with complete secondary sexual development, or by the age of 14 years in a girl without secondary sexual development.
• Amenorrhea is defined secondary when menstrual cycles disappear for 6 consecutive months in a girl with irregular menses or for 3 consecutive months in a girl with regular menses (Deligeoroglou et al., 2010).

Primary amenorrhea has also been described as the absence of menses in a 15 year old with normal secondary sex characteristics, or within 5 years after breast development if that occurs before the age of 10 years.

Etiology

The common causes of amenorrhea in adolescents are listed in Table X-1. In clinical practice, hypothalamic amenorrhea and PCOS are the most prevalent causes of amenorrhea in adolescents.

Approach to Diagnosis

History

Presence of secondary sexual characteristicsOpens in new window should be asked for specifically. History of any chronic illness, weight gain or loss, and exercise habits should be elicited. Sexual history should be obtained confidentially, because pregnancy is a rare but possible cause of primary amenorrhea and the most common cause of secondary amenorrhea.

Social stressors may contribute to primary or secondary amenorrhea, and should be sought. Patient should be asked specifically about the medications she is taking, including any antipsychotic medication, contraceptive use, and illicit drug use.

The review of systems should include discussion of acne or unwanted hair growth, weight changes, mood changes, disordered eating attitudes and behavior, change in bowel habits, abdominal pain, headaches, visual changes, galactorrhea, athletic participation and vaginal discharge. Family history should focus on any potential endocrine disorders in first-order relatives, including thyroid disease, diabetes, PCOS, and infertility and any constitutional delay of menses in siblings.

Physical Examination

The physical examination of the girl with amenorrhea begins with a general assessment including height, weight and body mass index (BMI calculation). Girls who are overweight are more likely to have an endocrinopathy (hypothyroidism, Cushing syndrome), whereas underweight patients may have a deficit of calories (eating disorder or bowel disease such as inflammatory bowel disease or celiac disease).

The patient with exceptionally short stature with or without other features such as webbed neck, widely spaced nipples, shield chest, and high arched palate, and primary amenorrhea points toward Turner syndrome (45, X) or mosaicism (46,XX/45,X).

Palpation of thyroid gland and Tanner staging of breast development and pubic hair has to be done. Breasts should be examined for presence of galactorrhea. A brief neurological examination may include an assessment of the ability to smell, fundoscopic examination and screening visual field tests by confrontation. The presence of hirsutism, acne and acanthosis nigricans should be looked for.

The gynecological assessment involves inspection of the external genitalia to determine if the girl has clitoromegaly and a normal hymenal opening and whether there is estrogen effect on the hymen and anterior vagina. Normal breast development and an estrogenized vagina implies ovaries are producing estrogen.

To assess the patency and length of the vagina in a virgin patient, a saline moistened cotton-tipped applicator can be gently inserted into the hymen opening to assess the depth of the vagina (7 – 8 cm is average for a postpubertal young woman).

In a patient with vaginal agenesis, the applicator can be inserted only 0.5 – 2 cm. If there is any question of anatomic abnormality, pelvic ultrasonography should be performed at an experienced center.

When evaluating primary amenorrhea, it is also important to note that menarche is typically delayed in athletes compared to nonathletes. Secondary amenorrhea can result from reduced energy availability and/or stress, in which case it is termed functional hypothalamic amenorrhea (FHA)Opens in new window.

One can lower the energy availability and affect energy balance by decreasing energy intake (as seen with eating disorders, disordered eating or inadvertent poor nutrition), or by increasing energy expenditure (e.g., through increased volume or intensity of exercise) without a compensatory increase in caloric intake.

The “energy drain” hypothesis suggests that it is the inadequate energy intake relative to energy expenditure (i.e. not the stress of exercise) that then leads to menstrual dysfunction and amenorrhea by altering the levels of reproduction of estrogen secretion) and luteinizing hormone (LH). The latter is secreted in a pulsatile fashion, and is the first to be altered (Loucks et al. 2003).

The negative energy balance has been implicated as the principal mechanism by which training predisposes female athletes to menstrual dysfunction.

Treatment of amenorrhea depends on the aetiology and consists of specific diagnostic and therapeutic procedures.