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Amenorrhea

Background

Overview

Definition
Amenorrhea is defined as the absence of menstrual periods in women.
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Pathophysiology
The pathophysiology of amenorrhea is complex and multifactorial. It can be caused by hormonal disorders such as pituitary dysfunction and absent ovarian function. It can also be caused due to chromosomal abnormalities and impairment of GnRH pulsatile secretion.
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Epidemiology
The prevalence rates of primary and secondary amenorrhea in the general population are estimated at 0.3% and 3-4%, respectively.
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Disease course
Clinically, amenorrhea presents as the absence of menstrual periods. In primary amenorrhea, there is also an absence of secondary sexual characteristics in phenotypic women aged ≥ 14 years. In secondary amenorrhea, there may be other associated symptoms depending on the underlying cause. For example, patients with functional hypothalamic amenorrhea may present with severe bradycardia, hypotension, orthostasis, and/or electrolyte imbalance.
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Prognosis and risk of recurrence
The prognosis of amenorrhea depends on the underlying cause. Functional hypothalamic amenorrhea is reversible, and normal menstrual function can be restored with appropriate treatment. Amenorrhea due to chromosomal abnormalities or primary ovarian insufficiency may not be reversible.
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Guidelines

Key sources

The following summarized guidelines for the evaluation and management of amenorrhea are prepared by our editorial team based on guidelines from the Endocrine Society (ES 2020,2018,2017,2013,2011), the American College of Obstetricians and Gynecologists (ACOG 2018,2017), the Society of Obstetricians and Gynaecologists of Canada (SOGC 2018), the American Society for Reproductive Medicine (ASRM 2017), the European Society of Human Reproduction and ...
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Diagnostic investigations

Exclusion of pregnancy: as per AAFP 2013 guidelines, exclude pregnancy in all patients presenting with amenorrhea.
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More topics in this section

  • Evaluation for etiology (functional hypothalamic amenorrhea)

  • Evaluation for etiology (primary ovarian insufficiency)

  • Evaluation for etiology (hyperprolactinemia)

  • Evaluation for etiology (PCOS)

  • Evaluation for etiology (congenital adrenal hyperplasia)

  • Evaluation for etiology (Müllerian tract anomalies)

  • Evaluation of primary ovarian insufficiency (karyotyping and genetic testing)

  • Evaluation of primary ovarian insufficiency (adrenocortical and thyroid antibodies)

  • Evaluation of primary ovarian insufficiency (cardiac evaluation)

  • Evaluation of primary ovarian insufficiency (bone mineral testing)

  • Evaluation of PCOS (cardiac evaluation)

  • Evaluation of PCOS (screening for diabetes)

  • Evaluation of PCOS (screening for endometrial cancer)

  • Evaluation of PCOS (psychosocial assessment)

  • Bone mineral density testing

Medical management

Management of functional hypothalamic amenorrhea, general principles
As per ES 2017 guidelines:
Consider educating patients about various menstrual patterns occurring during the recovery phase once the diagnosis of functional hypothalamic amenorrhea is established. Consider informing patients that irregular menses do not require immediate evaluation and that menstrual irregularity does not preclude conception.
Evaluate patients with functional hypothalamic amenorrhea and severe bradycardia, hypotension, orthostasis, and/or electrolyte imbalance for inpatient treatment.
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More topics in this section

  • Management of functional hypothalamic amenorrhea (correction of energy imbalance)

  • Management of functional hypothalamic amenorrhea (hormonal therapy)

  • Management of functional hypothalamic amenorrhea (psychological support)

  • Management of functional hypothalamic amenorrhea (management of infertility)

  • Management of functional hypothalamic amenorrhea (management of osteoporosis)

  • Management of primary ovarian insufficiency

  • Management of hyperprolactinemia (medical therapy)

  • Management of hyperprolactinemia (radiotherapy and surgery)

  • Management of PCOS (lifestyle modifications)

  • Management of PCOS (hormonal contraceptives)

  • Management of PCOS (insulin sensitizers)

  • Management of PCOS (ovulation induction)

  • Management of PCOS (statin therapy)

Specific circumstances

Female athletes, evaluation: as per ACSM 2007 guidelines, screen for female athlete triad at the preparticipation or annual health screening examination. Assess athletes with one component of the triad for the others.
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  • Female athletes (management)