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A 26 year-old woman comes to clinic for evaluation of abnormal menses. After having previously irregular menses, she now reports a 9-month history of amenorrhea. She and her husband are now interested in having a child.

  • What additional questions would you ask to characterize her abnormal menstrual cycles?
  • Which questions will help you diagnose the major causes of amenorrhea?
  • What clues would you look for on physical examination?

Amenorrhea, the absence of menses, is a common problem in the primary care setting. This condition may be transient, intermittent, or permanent, and usually results from congenital, neuroendocrine, or anatomic abnormalities. The first diagnostic step is determining whether amenorrhea is primary (before menarche) or secondary (after menarche).

Primary amenorrhea is the absence of menses by age 16 in the presence of otherwise normal secondary sexual characteristics or by age 14 if secondary sexual development has not occurred. Secondary amenorrhea is the absence of menses for 3 months in a woman with previously normal menses or 9 months in a woman with oligomenorrhea (light or infrequent menses).1

A thorough history and physical examination helps narrow the differential diagnosis prior to ordering any laboratory tests or studies.

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Asherman's syndromeIntrauterine adhesions usually resulting from uterine instrumentation (eg, curettage or scraping of the uterine cavity to remove tissue).
Follicle-stimulating hormone (FSH) and luteinizing hormone (LH)Pituitary hormones that stimulate the follicles of the ovary and assist in follicular maturation.
Gonadal dysgenesis (Turner syndrome)The failure of the gonads to develop in the presence of an abnormal karyotype. Gonadal failure in the presence of a normal karyotype is termed gonadal agenesis.
Gonadotropin-releasing hormone (GnRH)A hormone secreted by the hypothalamus that stimulates FSH and LH release.
Hypothalamic or functional amenorrheaDisorder of GnRH release resulting in loss of the LH surge and anovulation.
Hypothalamic-pituitary-ovarian (HPO) axisThe hormonal regulatory system that controls the menstrual/reproductive cycle.
Müllerian agenesisThe absence of the fallopian tubes, uterus, and internal portion of the vagina. Patients have normal female genotype, normal secondary sex characteristics (phenotype), and amenorrhea.
Polycystic ovarian syndrome (PCOS)Syndrome characterized by hirsutism (excessive body and facial hair), obesity, menstrual abnormalities, infertility, and enlarged ovaries.
Postpill amenorrheaFailure to resume ovulation 6 months after discontinuing hormonal contraception.
Premature ovarian failureDepletion of oocytes and surrounding follicles before age 40. Causes include chemotherapy, radiation, and autoimmune disease.
Primary amenorrheaThe absence of menses by age 16 if otherwise normal development of secondary sexual characteristics, or by age 14 if secondary sexual development has not occurred.
Secondary amenorrheaThe absence of menses for 3 months in a woman with a previously normal menses or for 9 months in a woman with oligomenorrhea.

Primary amenorrhea in the United States has a prevalence of 0.3%. Secondary amenorrhea is much more common, with a prevalence of 3.3% (excluding pregnancy).2 Once pregnancy ...

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