A Review of AFP's "Amenorrhea: An Approach to Diagnosis and Management"

A review of: Amenorrhea: An Approach to Diagnosis and Management
DAVID A. KLEIN, MD, MPH, San Antonio Military Medical Center, San Antonio, Texas, MERRILY A. POTH, MD, Uniformed Health Services University of the Health Sciences, Bethesda, Maryland
Am Fam Physician. 2013 Jun 1;87(11):781-788.
http://www.aafp.org/afp/2013/0601/p781.pdf

     Amenorrhea can be primary or secondary. Primary is when the patient does not reach menarche. It should be considered if the patient is 15 years or age without having menses, does not have any pubertal development by the age of 13, or if the patient has not achieved menarche within five years of breast development. The most common causes are chromosomal or anatomical.  Secondary amenorrhea is considered if the patient has irregular menses for six months or no menses for three months, after menarche. Causes in this case include PCOS, hypothalamic amenorrhea, hyperprolactinemia, or primary ovarian insufficiency.
    Evaluation of primary amenorrhea starts with a history and physical exam. Some important points include galactorrhea, hirsutism, acne, sexual activity, vasomotor symptoms, BMI, thyroid exam, dysmorphic features, tanner staging, and pelvic exam. Lab work includes a pregnancy test, FSH, TSH, prolactin, as well as a pelvic ultrasound.  If there is no uterus present on ultrasound, karyotyping  and testosterone levels can be done to determine if the patient has mullerian agenesis (46,XX) or androgen insensitivity syndrome (46,XY). Mullerian agenesis may present in a patient with normal breast development, who has not reached menarche. It may be caused by a malformed genital or urinary tract, imperforate hymen, or transverse vaginal septum. Patients with androgen insensitivity may have little or no pubic hair, a blind vaginal pouch, and normal breasts. If the uterus is present, the FSH and LH levels should be checked. Low levels suggest a functional amenorrhea, constitutional delay of puberty, or a gonadotropin releasing hormone deficiency. Functional amenorrhea can be associated with the "female athlete triad" of deficient calorie intake, amenorrhea, and low bone density. If the levels are normal, an outflow tract obstruction should be considered. If the levels are elevated, the cause may be primary ovarian insufficiency or Turner syndrome. Patients with primary ovarian insufficiency may need hormone therapy until the age of menopause. It will  decrease ischemic heart disease, vasomotor symptoms, and bone health.  In Turner syndrome (45,XO) patients will have the short stature, a webbed neck and a low hairline.
     Evaluation of secondary amenorrhea is also done with a history, exam and lab work. If the FSH and LH are high, they should be repeated in one month. Causes include primary ovarian insufficiency or the onset of menopause. When the levels of FSH and LH are low or normal, further investigation must be completed.  Functional amenorrhea will be associated with an eating disorder, excessive exercise, or poor nutrition.  An MRI can be done to rule out neoplasia if the patient has evidence of increased ICP. Asherman syndrome is due to uterine instrumentation during OB/GYN procedures. It the patient has evidence of hyperandrogenism, the clinician should order a serum testosterone, DHEA-5 and a 17-hydroxyprogesterone level. Elevated 17-OH progesterone can be due to congential adrenal hyperplasia. Elevated androgen levels may be seen in an adrenal or ovarian tumors. PCOS will be hyperandrogenistc, with polycystic ovaries on ultrasound. There will also be insulin resistance, ovulatory dysfunction, hirsutism  and acne. Metformin, low-dose combined OCP's, weight loss, and exercise will improve symptoms.