Current evaluation of amenorrhea

Amenorrhea is the transient or permanent absence of menstrual flow and may be subdivided into primary and secondary presentations, relative to menarche.[1]

• Primary amenorrhea: lack of menses by age 15 years in a patient with appropriate development of secondary sexual characteristics, or absent menses by age 13 years and no other pubertal maturation.
• Secondary amenorrhea: lack of menses in a non-pregnant female for at least 3 cycles of her previous interval, or lack of menses for 6 months in a patient who was previously menstruating.

Although overlapping attributes exist between the two groups, the diagnostic approaches vary significantly. The prevalence of primary amenorrhea in the US is <0.1%, compared with 4% for secondary amenorrhea.[2][3] Even when causes of primary and secondary amenorrhea overlap, the relative likelihoods for these etiologies may differ. For example, polycystic ovary syndrome may cause either primary or secondary amenorrhea, but much more commonly causes secondary amenorrhea. Many causes of primary amenorrhea are rare in the general population (e.g., Kallman syndrome). Conditions that may seem to be rare events generally may appear more commonly in this subgroup of adolescent girls presenting with primary amenorrhea.

Despite the low prevalence of primary amenorrhea, a prompt, comprehensive assessment by a specialist in reproductive medicine is warranted, as amenorrhea is often the presenting sign of an underlying reproductive disorder. A delay in diagnosis and treatment may adversely impact the long-term future of such patients. For example, an adolescent with androgen insensitivity syndrome requires counseling for eventual removal of gonads because these patients carry up to about a 30% risk of gonadal neoplasms. In polycystic ovary syndrome and hyperinsulinemia, behavioral and dietary modifications may prevent subsequent cardiovascular disease.[4][5][6]

Differentials

Common

• Primary hypothalamic amenorrhea
• Emotional/physical stress or female athlete triad
• Constitutional delay
• Malnutrition or chronic disease state

Uncommon

• Craniopharyngioma
• GnRH receptor deficiency
• Post-encephalitis
• Androgen-producing ovarian tumor

https://bestpractice.bmj.com/topics/en-us/1101