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Diagnosis and Initial Evaluation of Premature Ovarian Insufficiency (POI)

Premature ovarian insufficiency (POI), by definition, occurs when a woman has her last menstrual period before the age of 40, because of variable, and most often permanent ovarian dysfunction. It presents as hypergonadotropic hypogonadism with peripheral amenorrhea. It has a prevalence of 1-2%, but in women under 20 years its prevalence is one case in every 10,000 women. POI is a devastating diagnosis for women of reproductive age. Many conditions can lead to POI, but it is most commonly idiopathic, and it has a variable clinical presentation. It has serious health consequences, including psychological disorders such as anxiety or depression, infertility, osteoporosis, autoimmune disorders, cardiovascular diseases, and an increased risk of mortality.

Diagnosis and initial evaluation of POI in adolescents (ACOG) 

Diagnosis of primary ovarian insufficiency

  1. Menstrual irregularity for at least 3 consecutive months
  2. Follicle-Stimulating Hormone (FSH) and Oestradiol (E2) Levels: two randomized tests at least 1 month apart
  3. Prolactin test (PRL) and thyroid function test (TSH and free T4)
  4. Beta-human Chorionic Gonadotropin (ß-hCG) *

If diagnosis is confirmed

  1. Karyotype
  2. FMR1 Premutation
  3. Adrenal antibodies: 21-hydroxylase (CYP21) by immunoprecipitation or indirect immunofluorescence
  4. Pelvic ultrasonography

* levels that rule out pregnancy.

 

References:

  1. Stuenkel CA, Gompel A. Primary Ovarian Insufficiency. N Engl J Med. 2023 Jan 12;388(2):154-163. [Medline]
  2. Committee opinion no. 605: primary ovarian insufficiency in adolescents and young women. Obstet Gynecol. 2014 Jul;124(1):193-197. [Medline]

 

Created: Nov 17, 2023.

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