Causes of primary amenorrhea
- Corrine K Welt, MD
Corrine K Welt, MD
- Professor of Medicine
- University of Utah School of Medicine
- Robert L Barbieri, MD
Robert L Barbieri, MD
- Editor-in-Chief — Obstetrics, Gynecology and Women's Health
- Section Editor — General Gynecology and Female Reproductive Endocrinology
- Kate Macy Ladd Professor of Obstetrics, Gynecology and Reproductive Biology
- Harvard Medical School
- Section Editors
- William F Crowley, Jr, MD
William F Crowley, Jr, MD
- Section Editor — Female Reproductive Endocrinology
- Daniel K Podolsky Professor of Medicine
- Harvard Medical School
- Mitchell E Geffner, MD
Mitchell E Geffner, MD
- Section Editor — Pediatric Endocrinology
- Professor of Pediatrics
- Keck School of Medicine, University of Southern California
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 cycle intervals or six months in women who were previously menstruating). Primary amenorrhea should prompt a thorough evaluation to identify the cause.
The causes and diagnosis of primary amenorrhea are reviewed here. The diagnostic evaluation and treatment options for primary amenorrhea and the etiology, diagnosis, and treatment of secondary amenorrhea are discussed separately. (See "Evaluation and management of primary amenorrhea" and "Epidemiology and causes of secondary amenorrhea" and "Evaluation and management of secondary amenorrhea".)
Primary amenorrhea is defined as the absence of menses at age 15 years in the presence of normal growth and secondary sexual characteristics. The identification of primary amenorrhea should always prompt a thorough evaluation to identify a cause . 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 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.
Primary amenorrhea is usually the result of a genetic or anatomical abnormality. However, all causes of secondary amenorrhea can also present as primary amenorrhea. In a large case series of primary amenorrhea, the most common etiologies were :
●Gonadal dysgenesis, including Turner syndrome – 43 percent
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- Hypothalamic and pituitary disease
- - Functional hypothalamic amenorrhea
- - Isolated GnRH deficiency
- - Constitutional delay of puberty
- - Hyperprolactinemia
- - Other
- Gonadal dysgenesis/POI
- - Turner syndrome
- - 46,XY gonadal dysgenesis
- - Primary ovarian insufficiency (POI)
- Polycystic ovary syndrome
- Outflow tract disorders
- - Imperforate hymen
- - Transverse vaginal septum
- - Müllerian agenesis
- Receptor abnormalities and enzyme deficiencies
- - Complete androgen insensitivity syndrome
- - 5-alpha-reductase deficiency
- - 17-alpha-hydroxylase deficiency
- - P450 oxidoreductase deficiency
- - Estrogen resistance
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