Primary ovarian insufficiency

Primary ovarian insufficiency[1][2]
Other namesPremature ovarian insufficiency,[3] premature menopause,[1][4] and premature ovarian failure.[5]
SpecialtyObstetrics and gynecology

Primary ovarian insufficiency (POI), also called premature ovarian insufficiency, premature menopause, and premature ovarian failure, is the partial or total loss of reproductive and hormonal function of the ovaries before age 40 because of follicular (egg producing area) dysfunction or early loss of eggs.[1][4][6] POI can be seen as part of a continuum of changes leading to menopause[7] that differ from age-appropriate menopause in the age of onset, degree of symptoms, and sporadic return to normal ovarian function.[8] POI affects approximately 1 in 10,000 women under age 20, 1 in 1,000 women under age 30, and 1 in 100 of those under age 40.[6] A medical triad for the diagnosis is amenorrhea, hypergonadotropism, and hypoestrogenism.[5]

Physical and emotional symptoms are similar to those seen during menopause and can include hot flashes, night sweats, dry skin, vaginal dryness, irregular or absent menstruation, anxiety, depression, mental fog, irritability, nervousness, decreased libido, and increased autoimmune disruption.[9] The sense of shock and distress on being informed of the diagnosis can be overwhelming.[1] Hormonal therapy with estrogen and progesterone is the first line treatment and is associated with improvement of symptoms and possibly improvement in other parameters such as bone density, mortality and cardiovascular risk.[10] The general treatment is for symptoms, bone protection, and mental health.[1][11] Although 5 to 10% of women with POI may ovulate sporadically and become pregnant without treatment,[12] others may use assisted reproductive technology including in vitro fertilization and egg donation[13] or decide to adopt or remain childless.[14]

The causes of POI are heterogeneous and are unknown in 90% of cases.[6] It can be associated with genetic causes, autoimmune disease, enzyme deficiency, infection, environmental factors, radiation, or surgery in 10%.[15] Two to 5% of women with POI and a premutation in FMR1, a genetic abnormality, are at risk of having a child with fragile X syndrome, the most common cause of inherited intellectual disability.[8][6]

The diagnosis is based on ages less than 40, amenorrhea, and elevated serum follicle-stimulating hormone (FSH) levels.[4] Typical serum FSH levels in POI patients is in the post-menopausal range.[2] Treatment will vary depending on the symptoms. It can include hormone replacement therapy, fertility management, and psychosocial support, as well as annual screenings of thyroid and adrenal function.[16]

  1. ^ a b c d e Santoro NF, Cooper AR (2016). Santoro NF, Cooper AR (eds.). Primary Ovarian Insufficiency A Clinical Guide to Early Menopause. Springer. pp. i–207. doi:10.1007/978-3-319-22491-6. ISBN 978-3-319-22490-9. Each scientific chapter begins with a clinical vignette: 1. "I almost fell out of my chair!" 2. "I could not stop crying..." 3. "I felt like an old woman." 4. "Great! More bad news!" 5. "...just see what happened, and hope." 6. "You push yourself through the fog that is in your head." 7. "I was shocked. Considering I was only 28 years old..." 8. "She is overwhelmed and distraught." 9. "Despite this devastation..." 10. "...some women have more pronounced mood responses to hormonal changes than others." 11. "...could a scientist create more <eggs> from a skin biopsy?... Surely, this kind of technology should exist somewhere." and 12. "...night sweats, severe sleep disturbance, dry eyes, and memory loss."
  2. ^ a b Pastore LM, Christianson MS, Stelling J, Kearnsa WG, Segars JH (January 2018). "Reproductive ovarian testing and the alphabet soup of diagnoses: DOR, POI, POF, POR, and FOR". Journal of Assisted Reproduction and Genetics. 35 (1): 17–23. doi:10.1007/s10815-017-1058-4. PMC 5758472. PMID 28971280.
  3. ^ Kirshenbaum M, Orvieto R (November 2019). "Premature ovarian insufficiency (POI) and autoimmunity-an update appraisal". Journal of Assisted Reproduction and Genetics. 36 (11): 2207–2215. doi:10.1007/s10815-019-01572-0. PMC 6885484. PMID 31440958.
  4. ^ a b c Nelson LM (February 2009). "Clinical practice. Primary ovarian insufficiency". The New England Journal of Medicine. 360 (6): 606–14. doi:10.1056/NEJMcp0808697. PMC 2762081. PMID 19196677.
  5. ^ a b Zhang C (March 2019). "The roles of different stem cells on premature ovarian failure". Current Stem Cell Research & Therapy. 15 (6): 473–481. doi:10.2174/1574888X14666190314123006. PMID 30868961. S2CID 76665931.
  6. ^ a b c d Martin LA, Porter AG, Pelligrini VA, Schnatz PF, Jiang X, Kleinstreuer N, et al. (March 2017). "A design thinking approach to primary ovarian insufficiency". Panminerva Medica. 59 (1): 15–32. doi:10.23736/S0031-0808.16.03259-6. PMID 27827529.
  7. ^ Cite error: The named reference cooper2011 was invoked but never defined (see the help page).
  8. ^ a b Eckhardt S, Wellons, M (2016). "Chapter 1 Defining Menopause: What Is Early, What Is Late?". In Santoro NF, Cooper AR (eds.). Primary Ovarian Insufficiency A Clinical Guide to Early Menopause. Springer. pp. 1–17. doi:10.1007/978-3-319-22491-6. ISBN 978-3-319-22490-9.
  9. ^ Cite error: The named reference allshouse2016c3 was invoked but never defined (see the help page).
  10. ^ Cite error: The named reference Stuenkel 2023 was invoked but never defined (see the help page).
  11. ^ Welt CK (April 2008). "Primary ovarian insufficiency: a more accurate term for premature ovarian failure". Clinical Endocrinology. 68 (4): 499–509. doi:10.1111/j.1365-2265.2007.03073.x. PMID 17970776. S2CID 21359408.
  12. ^ van Kasteren YM, Schoemaker J (1999). "Premature ovarian failure: a systematic review on therapeutic interventions to restore ovarian function and achieve pregnancy". Human Reproduction Update. 5 (5): 483–92. doi:10.1093/humupd/5.5.483. PMID 10582785.
  13. ^ Ikhena DE, Robins JC (2016). "Chapter 8 IVF and Egg Donation: Special Considerations". In Santoro NF, Cooper AR (eds.). Primary Ovarian Insufficiency A Clinical Guide to Early Menopause. Springer. pp. 125–136. doi:10.1007/978-3-319-22491-6. ISBN 978-3-319-22490-9.
  14. ^ Bevilacqua B (2016). "Chapter 10 Primary Ovarian Insufficiency (POI) and Mood Disorders". In Santoro NF, Cooper AR (eds.). Primary Ovarian Insufficiency A Clinical Guide to Early Menopause. Springer. pp. 145–138. doi:10.1007/978-3-319-22491-6. ISBN 978-3-319-22490-9.
  15. ^ Foyouzi N, Green LJ, Camper SA (2016). "Chapter 2. Etiologies of Primary Ovarian Insufficiency". In Santoro NF, Cooper AR (eds.). Primary Ovarian Insufficiency A Clinical Guide to Early Menopause. Springer. pp. 19–35. doi:10.1007/978-3-319-22491-6. ISBN 978-3-319-22490-9.
  16. ^ Tiosano D, Mears JA, Buchner DA (October 2019). "Mitochondrial Dysfunction in Primary Ovarian Insufficiency". Endocrinology. 160 (10): 2353–2366. doi:10.1210/en.2019-00441. PMC 6760336. PMID 31393557.

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