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Evaluation and management of primary amenorrhea

Authors
Corrine K Welt, MD
Robert L Barbieri, MD
Section Editors
William F Crowley, Jr, MD
Mitchell E Geffner, MD
Deputy Editor
Kathryn A Martin, MD

INTRODUCTION

Amenorrhea (absence of menses) can be a transient, intermittent, or permanent condition resulting from dysfunction of the hypothalamus, pituitary, ovaries, uterus, or vagina (table 1 and table 2). It is often classified as either primary (absence of menarche by age 15 years) or secondary (absence of menses for more than three months in girls or women who previously had regular menstrual cycles or six months in girls or women who had irregular menses).

The causes and diagnosis of primary amenorrhea, as well as a brief summary of treatment options, are reviewed here. The etiology, diagnosis, and treatment of secondary amenorrhea are discussed separately. (See "Causes of primary amenorrhea" and "Epidemiology and causes of secondary amenorrhea" and "Evaluation and management of secondary amenorrhea".)

EVALUATION

Background — Primary amenorrhea is defined as the absence of menses at age 15 years in the presence of normal growth and secondary sexual characteristics. However, at age 13 years, if no menses have occurred and there is a complete absence of secondary sexual characteristics such as breast development, evaluation for primary amenorrhea should also begin. In addition, some girls with secondary sexual characteristics may present before age 15 years with amenorrhea and cyclic pelvic pain. These girls should be evaluated for possible outflow tract obstruction. (See "Causes of primary amenorrhea", section on 'Outflow tract disorders'.)

Primary amenorrhea is usually the result of a genetic or anatomical abnormality. However, all causes of secondary amenorrhea can also present as primary amenorrhea (table 1 and table 2). In a large case series of primary amenorrhea, the most common etiologies were [1]:

Gonadal dysgenesis, including Turner syndrome – 43 percent

             

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Literature review current through: Nov 2016. | This topic last updated: Fri Oct 14 00:00:00 GMT+00:00 2016.
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References
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  1. Reindollar RH, Byrd JR, McDonough PG. Delayed sexual development: a study of 252 patients. Am J Obstet Gynecol 1981; 140:371.
  2. Laitinen EM, Vaaralahti K, Tommiska J, et al. Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland. Orphanet J Rare Dis 2011; 6:41.
  3. Practice Committee of the American Society for Reproductive Medicine. Current evaluation of amenorrhea. Fertil Steril 2006; 86:S148.
  4. Krasna IH, Lee ML, Smilow P, et al. Risk of malignancy in bilateral streak gonads: the role of the Y chromosome. J Pediatr Surg 1992; 27:1376.
  5. De Arce MA, Costigan C, Gosden JR, et al. Further evidence consistent with Yqh as an indicator of risk of gonadal blastoma in Y-bearing mosaic Turner syndrome. Clin Genet 1992; 41:28.
  6. Lukusa T, Fryns JP, Kleczkowska A, Van den Berghe H. Role of gonadal dysgenesis in gonadoblastoma induction in 46, XY individuals. The Leuven experience in 46, XY pure gonadal dysgenesis and testicular feminization syndromes. Genet Couns 1991; 2:9.
  7. Martin KA, Hall JE, Adams JM, Crowley WF Jr. Comparison of exogenous gonadotropins and pulsatile gonadotropin-releasing hormone for induction of ovulation in hypogonadotropic amenorrhea. J Clin Endocrinol Metab 1993; 77:125.
  8. Crowley WF Jr, Jameson JL. Clinical counterpoint: gonadotropin-releasing hormone deficiency: perspectives from clinical investigation. Endocr Rev 1992; 13:635.
  9. Santoro N, Filicori M, Crowley WF Jr. Hypogonadotropic disorders in men and women: diagnosis and therapy with pulsatile gonadotropin-releasing hormone. Endocr Rev 1986; 7:11.